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Sample records for spastic paraplegia proteins

  1. Modeling of axonal endoplasmic reticulum network by spastic paraplegia proteins.

    Science.gov (United States)

    Yalçın, Belgin; Zhao, Lu; Stofanko, Martin; O'Sullivan, Niamh C; Kang, Zi Han; Roost, Annika; Thomas, Matthew R; Zaessinger, Sophie; Blard, Olivier; Patto, Alex L; Sohail, Anood; Baena, Valentina; Terasaki, Mark; O'Kane, Cahir J

    2017-07-25

    Axons contain a smooth tubular endoplasmic reticulum (ER) network that is thought to be continuous with ER throughout the neuron; the mechanisms that form this axonal network are unknown. Mutations affecting reticulon or REEP proteins, with intramembrane hairpin domains that model ER membranes, cause an axon degenerative disease, hereditary spastic paraplegia (HSP). We show that Drosophila axons have a dynamic axonal ER network, which these proteins help to model. Loss of HSP hairpin proteins causes ER sheet expansion, partial loss of ER from distal motor axons, and occasional discontinuities in axonal ER. Ultrastructural analysis reveals an extensive ER network in axons, which shows larger and fewer tubules in larvae that lack reticulon and REEP proteins, consistent with loss of membrane curvature. Therefore HSP hairpin-containing proteins are required for shaping and continuity of axonal ER, thus suggesting roles for ER modeling in axon maintenance and function.

  2. Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation.

    Science.gov (United States)

    Chang, Jaerak; Lee, Seongju; Blackstone, Craig

    2014-12-01

    Autophagy allows cells to adapt to changes in their environment by coordinating the degradation and recycling of cellular components and organelles to maintain homeostasis. Lysosomes are organelles critical for terminating autophagy via their fusion with mature autophagosomes to generate autolysosomes that degrade autophagic materials; therefore, maintenance of the lysosomal population is essential for autophagy-dependent cellular clearance. Here, we have demonstrated that the two most common autosomal recessive hereditary spastic paraplegia gene products, the SPG15 protein spastizin and the SPG11 protein spatacsin, are pivotal for autophagic lysosome reformation (ALR), a pathway that generates new lysosomes. Lysosomal targeting of spastizin required an intact FYVE domain, which binds phosphatidylinositol 3-phosphate. Loss of spastizin or spatacsin resulted in depletion of free lysosomes, which are competent to fuse with autophagosomes, and an accumulation of autolysosomes, reflecting a failure in ALR. Moreover, spastizin and spatacsin were essential components for the initiation of lysosomal tubulation. Together, these results link dysfunction of the autophagy/lysosomal biogenesis machinery to neurodegeneration.

  3. Hereditary spastic paraplegia.

    Science.gov (United States)

    Blackstone, Craig

    2018-01-01

    The hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurologic disorders with the common feature of prominent lower-extremity spasticity, resulting from a length-dependent axonopathy of corticospinal upper motor neurons. The HSPs exist not only in "pure" forms but also in "complex" forms that are associated with additional neurologic and extraneurologic features. The HSPs are among the most genetically diverse neurologic disorders, with well over 70 distinct genetic loci, for which about 60 mutated genes have already been identified. Numerous studies elucidating the molecular pathogenesis underlying HSPs have highlighted the importance of basic cellular functions - especially membrane trafficking, mitochondrial function, organelle shaping and biogenesis, axon transport, and lipid/cholesterol metabolism - in axon development and maintenance. An encouragingly small number of converging cellular pathogenic themes have been identified for the most common HSPs, and some of these pathways present compelling targets for future therapies. Copyright © 2018 Elsevier B.V. All rights reserved.

  4. Mitochondrial energy metabolism is required for lifespan extension by the spastic paraplegia-associated protein spartin

    Directory of Open Access Journals (Sweden)

    Julia Ring

    2017-11-01

    Full Text Available Hereditary spastic paraplegias, a group of neurodegenerative disorders, can be caused by loss-of-function mutations in the protein spartin. However, the physiological role of spartin remains largely elusive. Here we show that heterologous expression of human or Drosophila spartin extends chronological lifespan of yeast, reducing age-associated ROS production, apoptosis, and necrosis. We demonstrate that spartin localizes to the proximity of mitochondria and physically interacts with proteins related to mitochondrial and respiratory metabolism. Interestingly, Nde1, the mitochondrial external NADH dehydrogenase, and Pda1, the core enzyme of the pyruvate dehydrogenase complex, are required for spartin-mediated cytoprotection. Furthermore, spartin interacts with the glycolysis enhancer phospo-fructo-kinase-2,6 (Pfk26 and is sufficient to complement for PFK26-deficiency at least in early aging. We conclude that mitochondria-related energy metabolism is crucial for spartin’s vital function during aging and uncover a network of specific interactors required for this function.

  5. Genetics Home Reference: spastic paraplegia type 7

    Science.gov (United States)

    ... in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing ... AH, Warner TT. A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain. ...

  6. Cellular Pathways of Hereditary Spastic Paraplegia*

    OpenAIRE

    Blackstone, Craig

    2012-01-01

    Human voluntary movement is controlled by the pyramidal motor system, a long CNS pathway comprising corticospinal and lower motor neurons. Hereditary spastic paraplegias (HSPs) are a large, genetically diverse group of inherited neurologic disorders characterized by a length-dependent distal axonopathy of the corticospinal tracts, resulting in lower limb spasticity and weakness. A range of studies are converging on alterations in the shaping of organelles, particularly the endoplasmic reticul...

  7. Unexplained spastIc paraplegia

    African Journals Online (AJOL)

    Of 330 Black patients admitted to hospital with paraplegia, the ... During the period of this study (January 1979 - May 1982) 330 patients were admitted to medical, surgical and orthopaedic. TABLE I. FINAL ... paraplegia of uncertain aetiology' seen at the ational Hospital,. Queen Square ... levels were all within normal limits.

  8. Hereditary spastic paraplegia with cerebellar ataxia

    DEFF Research Database (Denmark)

    Nielsen, J E; Johnsen, B; Koefoed, P

    2004-01-01

    Complex forms of hereditary spastic paraplegia (HSP) are rare and usually transmitted in an autosomal recessive pattern. A family of four generations with autosomal dominant hereditary spastic paraplegia (AD-HSP) and a complex phenotype with variably expressed co-existing ataxia, dysarthria......, unipolar depression, epilepsy, migraine, and cognitive impairment was investigated. Genetic linkage analysis and sequencing of the SPG4 gene was performed and electrophysiologic investigations were carried out in six individuals and positron emission tomography (PET) in one patient. The disease was linked...... in those individuals who were clinically affected by a complex phenotype consisting of HSP and cerebellar ataxia. Other features noted in this kindred including epilepsy, cognitive impairment, depression, and migraine did not segregate with the HSP phenotype or mutation, and therefore the significance...

  9. MRI of autosomal dominant pure spastic paraplegia

    DEFF Research Database (Denmark)

    Krabbe, K.; Nielsen, J.E.; Fallentin, E.

    1997-01-01

    We examined 16 patients with autosomal dominant pure spastic paraplegia (HSP) and 15 normal controls matched for age and sex using MRI of the brain and spinal cord. Images were assessed qualitatively by two independent radiologists, blinded to the clinical diagnosis. Areas of the brain and corpus...... callosum on one midsagittal slice and the area of the brain on one axial slice were measured and a "corpus-callosum index" expressing the size of the corpus callosum relative to that of the brain was calculated. Cross-sectional areas and anteroposterior and transverse diameters of the spinal cord...... at the levels of C 2, C 5, T 3, T 6, T 9 and T 11 were measured. No significant differences between patients and controls were found on qualitative evaluation of the images. The patients had a significantly smaller corpus callosum and "corpus-callosum index" than controls. This finding, not reported previously...

  10. MRI of autosomal dominant pure spastic paraplegia

    International Nuclear Information System (INIS)

    Krabbe, K.; Fallentin, E.; Herning, M.; Nielsen, J.E.; Fenger, K.

    1997-01-01

    We examined 16 patients with autosomal dominant pure spastic paraplegia (HSP) and 15 normal controls matched for age and sex using MRI of the brain and spinal cord. Images were assessed qualitatively by two independent radiologists, blinded to the clinical diagnosis. Areas of the brain and corpus callosum on one midsagittal slice and the area of the brain on one axial slice were measured and a ''corpus-callosum index'' expressing the size of the corpus callosum relative to that of the brain was calculated. Cross-sectional areas and anteroposterior and transverse diameters of the spinal cord at the levels of C 2, C 5, T 3, T 6, T 9 and T 11 were measured. No significant differences between patients and controls were found on qualitative evaluation of the images. The patients had a significantly smaller corpus callosum and ''corpus-callosum index'' than controls. This finding, not reported previously, might indicate that the disease process in pure HSP is not confined to the spinal cord. The anteroposterior diameters of the spinal cord at T 3 and T 9 were significantly smaller in patients than in controls. This might correspond to the degeneration of the pyramidal tracts and the dorsal columns described at neuropathological examination. (orig.). With 1 fig., 3 tabs

  11. MRI of autosomal dominant pure spastic paraplegia

    Energy Technology Data Exchange (ETDEWEB)

    Krabbe, K.; Fallentin, E.; Herning, M. [Danish Research Center of Magnetic Resonance, Hvidovre Hospital, Kettegaard alle 30, DK-2650 Hvidovre (Denmark); Nielsen, J.E.; Fenger, K. [Institute of Medical Biochemistry and Genetics, Laboratory of Medical Genetics, Section of Neurogenetics, University of Copenhagen (Denmark)

    1997-10-01

    We examined 16 patients with autosomal dominant pure spastic paraplegia (HSP) and 15 normal controls matched for age and sex using MRI of the brain and spinal cord. Images were assessed qualitatively by two independent radiologists, blinded to the clinical diagnosis. Areas of the brain and corpus callosum on one midsagittal slice and the area of the brain on one axial slice were measured and a ``corpus-callosum index`` expressing the size of the corpus callosum relative to that of the brain was calculated. Cross-sectional areas and anteroposterior and transverse diameters of the spinal cord at the levels of C 2, C 5, T 3, T 6, T 9 and T 11 were measured. No significant differences between patients and controls were found on qualitative evaluation of the images. The patients had a significantly smaller corpus callosum and ``corpus-callosum index`` than controls. This finding, not reported previously, might indicate that the disease process in pure HSP is not confined to the spinal cord. The anteroposterior diameters of the spinal cord at T 3 and T 9 were significantly smaller in patients than in controls. This might correspond to the degeneration of the pyramidal tracts and the dorsal columns described at neuropathological examination. (orig.). With 1 fig., 3 tabs.

  12. The prevalence of depression in hereditary spastic paraplegia.

    Science.gov (United States)

    Vahter, L; Braschinsky, M; Haldre, S; Gross-Paju, K

    2009-09-01

    To evaluate the prevalence of depression and sensitivity and specificity of the single-item interview 'Are you depressed?' for people with hereditary spastic paraplegia in Estonia. Single-item interview 'Are you depressed?' was used as a screening question for depression; all participants then completed the Beck Depression Inventory. People with hereditary spastic paraplegia identified from the epidemiological database who agreed to participate in the study. Beck Depression Inventory, clinical interview. The epidemiological database consisted of 59 patients with clinically confirmed diagnosis of hereditary spastic paraplegia. Forty-eight of these consented to participate in the study. The Beck Depression Inventory score was higher than cut-off point in 58% (28/48) and lower in 42% (20/48). Of the study group, 44% (21/48) had mild, 13% (6/48) moderate and one person revealed severe depression. There was a statistically significant correlation between Beck Depression Inventory score and level of mobility; no other significant correlations with other measures were detected. Of the participants, 54% (26/48) had subjective complaints about depression and answered 'Yes' to the single-item interview 'Are you depressed?'. The sensitivity of the one-item interview in the hereditary spastic paraplegia group was 75% and specificity 75%. Our results show that mild depression is prevalent among people with hereditary spastic paraplegia. Although the single question may be helpful, it cannot be relied upon entirely when assessing a person for depression.

  13. Mechanistic basis of an epistatic interaction reducing age at onset in hereditary spastic paraplegia.

    Science.gov (United States)

    Newton, Timothy; Allison, Rachel; Edgar, James R; Lumb, Jennifer H; Rodger, Catherine E; Manna, Paul T; Rizo, Tania; Kohl, Zacharias; Nygren, Anders O H; Arning, Larissa; Schüle, Rebecca; Depienne, Christel; Goldberg, Lisa; Frahm, Christiane; Stevanin, Giovanni; Durr, Alexandra; Schöls, Ludger; Winner, Beate; Beetz, Christian; Reid, Evan

    2018-05-01

    Many genetic neurological disorders exhibit variable expression within affected families, often exemplified by variations in disease age at onset. Epistatic effects (i.e. effects of modifier genes on the disease gene) may underlie this variation, but the mechanistic basis for such epistatic interactions is rarely understood. Here we report a novel epistatic interaction between SPAST and the contiguous gene DPY30, which modifies age at onset in hereditary spastic paraplegia, a genetic axonopathy. We found that patients with hereditary spastic paraplegia caused by genomic deletions of SPAST that extended into DPY30 had a significantly younger age at onset. We show that, like spastin, the protein encoded by SPAST, the DPY30 protein controls endosomal tubule fission, traffic of mannose 6-phosphate receptors from endosomes to the Golgi, and lysosomal ultrastructural morphology. We propose that additive effects on this pathway explain the reduced age at onset of hereditary spastic paraplegia in patients who are haploinsufficient for both genes.

  14. Genetic and phenotypic characterization of complex hereditary spastic paraplegia

    Science.gov (United States)

    Kara, Eleanna; Tucci, Arianna; Manzoni, Claudia; Lynch, David S.; Elpidorou, Marilena; Bettencourt, Conceicao; Chelban, Viorica; Manole, Andreea; Hamed, Sherifa A.; Haridy, Nourelhoda A.; Federoff, Monica; Preza, Elisavet; Hughes, Deborah; Pittman, Alan; Jaunmuktane, Zane; Brandner, Sebastian; Xiromerisiou, Georgia; Wiethoff, Sarah; Schottlaender, Lucia; Proukakis, Christos; Morris, Huw; Warner, Tom; Bhatia, Kailash P.; Korlipara, L.V. Prasad; Singleton, Andrew B.; Hardy, John; Wood, Nicholas W.; Lewis, Patrick A.

    2016-01-01

    Abstract The hereditary spastic paraplegias are a heterogeneous group of degenerative disorders that are clinically classified as either pure with predominant lower limb spasticity, or complex where spastic paraplegia is complicated with additional neurological features, and are inherited in autosomal dominant, autosomal recessive or X-linked patterns. Genetic defects have been identified in over 40 different genes, with more than 70 loci in total. Complex recessive spastic paraplegias have in the past been frequently associated with mutations in SPG11 (spatacsin), ZFYVE26/SPG15 , SPG7 (paraplegin) and a handful of other rare genes, but many cases remain genetically undefined. The overlap with other neurodegenerative disorders has been implied in a small number of reports, but not in larger disease series. This deficiency has been largely due to the lack of suitable high throughput techniques to investigate the genetic basis of disease, but the recent availability of next generation sequencing can facilitate the identification of disease-causing mutations even in extremely heterogeneous disorders. We investigated a series of 97 index cases with complex spastic paraplegia referred to a tertiary referral neurology centre in London for diagnosis or management. The mean age of onset was 16 years (range 3 to 39). The SPG11 gene was first analysed, revealing homozygous or compound heterozygous mutations in 30/97 (30.9%) of probands, the largest SPG11 series reported to date, and by far the most common cause of complex spastic paraplegia in the UK, with severe and progressive clinical features and other neurological manifestations, linked with magnetic resonance imaging defects. Given the high frequency of SPG11 mutations, we studied the autophagic response to starvation in eight affected SPG11 cases and control fibroblast cell lines, but in our restricted study we did not observe correlations between disease status and autophagic or lysosomal markers. In the remaining

  15. Repetitive Transcranial Magnetic Stimulation in Patients with Hereditary Spastic Paraplegia

    Directory of Open Access Journals (Sweden)

    Mehmet Ağırman

    2011-06-01

    Full Text Available Hereditary spastic paraplegia (HSPP is a heterogeneous genetic disease characterized by progressive spasticity of lower extremities. Spasticity is a major cause of long-term disability in HSPP and significantly affects the functional life of patients. Repetitive transcranial magnetic stimulation (rTMS is widely used in diagnosis and treatment of many neurological and psychiatric diseases. Although the positive impacts of rTMS for spasticity have been reported, no study has been found on HSPP. We present two HSPP patients treated with low frequency rTMS (20 minutes at a frequency of 1 Hz (1200 pulses, for a period of 10 treatment sessions.

  16. Repetitive Transcranial Magnetic Stimulation in Patients with Hereditary Spastic Paraplegia

    Directory of Open Access Journals (Sweden)

    Mehmet Ağırman

    2011-06-01

    Full Text Available Hereditary spastic paraplegia (HSPP is a heterogeneous genetic disease characterized by progressive spasticity of lower extremities. Spasticity is a major cause of long-term disability in HSPP and significantly affects the functional life of patients. Repetitive transcranial magnetic stimulation (rTMS is widely used in diagnosis and treatment of many neurological and psychiatric diseases. Although the positive impacts of rTMS for spasticity have been reported, no study has been found on HSPP. We present two HSPP patients treated with low frequency rTMS (20 minutes at a frequency of 1 Hz (1200 pulses, for a period of 10 treatment sessions

  17. Hereditary spastic paraplegias: membrane traffic and the motor pathway

    OpenAIRE

    Blackstone, Craig; O’Kane, Cahir J.; Reid, Evan

    2011-01-01

    Voluntary movement is a fundamental way in which animals respond to, and interact with, their environment. In mammals, the main CNS pathway controlling voluntary movement is the corticospinal tract, which encompasses connections between the cerebral motor cortex and the spinal cord. Hereditary spastic paraplegias (HSPs) are a group of genetic disorders that lead to a length-dependent, distal axonopathy of fibres of the corticospinal tract, causing lower limb spasticity and weakness. Recent wo...

  18. Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity

    NARCIS (Netherlands)

    Josifova, Dragana J.; Monroe, Glen R.; Tessadori, Federico; de Graaff, Esther; van der Zwaag, Bert; Mehta, Sarju G.; Harakalova, Magdalena; Duran, Karen J.; Savelberg, Sanne M. C.; Nijman, Isaäc J.; Jungbluth, Heinz; Hoogenraad, Casper C.; Bakkers, Jeroen; Knoers, Nine V.; Firth, Helen V.; Beales, Philip L.; van Haaften, Gijs; van Haelst, Mieke M.

    2016-01-01

    We identified de novo nonsense variants in KIDINS220/ARMS in three unrelated patients with spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO). KIDINS220 is an essential scaffold protein coordinating neurotrophin signal pathways in neurites and is spatially and temporally

  19. Fitzsimmons Syndrome: Spastic Paraplegia, Brachydactyly, and Cognitive Impairment

    NARCIS (Netherlands)

    Armour, Christine M.; Humphreys, Peter; Hennekam, Raoul C. M.; Boycott, Kym M.

    2009-01-01

    Fitzsimmons syndrome is an infrequently described entity comprising slowly progressive spastic paraplegia, brachydactyly, and cone-shaped epiphyses, dysarthria, and low-normal intelligence. Five patients with this syndrome have been reported. The cause remains unknown. Here we describe a 16-year-old

  20. Motor activation in SPG4-linked hereditary spastic paraplegia

    DEFF Research Database (Denmark)

    Scheuer, KH; Nielsen, JE; Krabbe, Katja

    2006-01-01

    OBJECTIVE: The aim of this study was to investigate the extent of motor cortical functional reorganisation in patients with SPG4-linked hereditary spastic paraplegia by exploring cortical motor activation related to movements of clinically affected (lower) and unaffected (upper) limbs. METHODS: T...

  1. Clinical features and management of hereditary spastic paraplegia

    Directory of Open Access Journals (Sweden)

    Ingrid Faber

    2014-03-01

    Full Text Available Hereditary spastic paraplegia (HSP is a group of genetically-determined disorders characterized by progressive spasticity and weakness of lower limbs. An apparently sporadic case of adult-onset spastic paraplegia is a frequent clinical problem and a significant proportion of cases are likely to be of genetic origin. HSP is clinically divided into pure and complicated forms. The later present with a wide range of additional neurological and systemic features. To date, there are up to 60 genetic subtypes described. All modes of monogenic inheritance have been described: autosomal dominant, autosomal recessive, X-linked and mitochondrial traits. Recent advances point to abnormal axonal transport as a key mechanism leading to the degeneration of the long motor neuron axons in the central nervous system in HSP. In this review we aim to address recent advances in the field, placing emphasis on key diagnostic features that will help practicing neurologists to identify and manage these conditions.

  2. Hereditary spastic paraplegias: membrane traffic and the motor pathway.

    Science.gov (United States)

    Blackstone, Craig; O'Kane, Cahir J; Reid, Evan

    2011-01-01

    Voluntary movement is a fundamental way in which animals respond to, and interact with, their environment. In mammals, the main CNS pathway controlling voluntary movement is the corticospinal tract, which encompasses connections between the cerebral motor cortex and the spinal cord. Hereditary spastic paraplegias (HSPs) are a group of genetic disorders that lead to a length-dependent, distal axonopathy of fibres of the corticospinal tract, causing lower limb spasticity and weakness. Recent work aimed at elucidating the molecular cell biology underlying the HSPs has revealed the importance of basic cellular processes — especially membrane trafficking and organelle morphogenesis and distribution— in axonal maintenance and degeneration.

  3. Converging cellular themes for the hereditary spastic paraplegias.

    Science.gov (United States)

    Blackstone, Craig

    2018-05-10

    Hereditary spastic paraplegias (HSPs) are neurologic disorders characterized by prominent lower-extremity spasticity, resulting from a length-dependent axonopathy of corticospinal upper motor neurons. They are among the most genetically-diverse neurologic disorders, with >80 distinct genetic loci and over 60 identified genes. Studies investigating the molecular pathogenesis underlying HSPs have emphasized the importance of converging cellular pathogenic themes in the most common forms of HSP, providing compelling targets for therapy. Most notably, these include organelle shaping and biogenesis as well as membrane and cargo trafficking. Published by Elsevier Ltd.

  4. Impaired Mitochondrial Dynamics Underlie Axonal Defects in Hereditary Spastic Paraplegias.

    Science.gov (United States)

    Denton, Kyle; Mou, Yongchao; Xu, Chong-Chong; Shah, Dhruvi; Chang, Jaerak; Blackstone, Craig; Li, Xue-Jun

    2018-05-02

    Mechanisms by which long corticospinal axons degenerate in hereditary spastic paraplegia (HSP) are largely unknown. Here, we have generated induced pluripotent stem cells (iPSCs) from patients with two autosomal recessive forms of HSP, SPG15 and SPG48, which are caused by mutations in the ZFYVE26 and AP5Z1 genes encoding proteins in the same complex, the spastizin and AP5Z1 proteins, respectively. In patient iPSC-derived telencephalic glutamatergic and midbrain dopaminergic neurons, neurite number, length and branching are significantly reduced, recapitulating disease-specific phenotypes. We analyzed mitochondrial morphology and noted a significant reduction in both mitochondrial length and their densities within axons of these HSP neurons. Mitochondrial membrane potential was also decreased, confirming functional mitochondrial defects. Notably, mdivi-1, an inhibitor of the mitochondrial fission GTPase DRP1, rescues mitochondrial morphology defects and suppresses the impairment in neurite outgrowth and late-onset apoptosis in HSP neurons. Furthermore, knockdown of these HSP genes causes similar axonal defects, also mitigated by treatment with mdivi-1. Finally, neurite outgrowth defects in SPG15 and SPG48 cortical neurons can be rescued by knocking down DRP1 directly. Thus, abnormal mitochondrial morphology caused by an imbalance of mitochondrial fission and fusion underlies specific axonal defects and serves as a potential therapeutic target for SPG15 and SPG48.

  5. NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy

    DEFF Research Database (Denmark)

    Svenstrup, K; Møller, R S; Christensen, J

    2011-01-01

    or signs are found. Mutations in the NIPA1 gene have been reported to cause spastic paraplegia type 6 (SPG6) in 10 families. SPG6 is a rare form of autosomal dominantly inherited HSP associated with a pure phenotype; however, in one complex SPG6 family, idiopathic generalized epilepsy (IGE) has been...... described and in addition, recurrent microdeletions at 15q11.2 including NIPA1 have been identified in patients with IGE. The purpose was to identify NIPA1 mutations in patients with pure and complex HSP. Methods: Fifty-two patients with HSP were screened for mutations in NIPA1. Results: One previously...... reported missense mutation c.316G>A, p.Gly106Arg, was identified in a complex HSP patient with spastic dysarthria, facial dystonia, atrophy of the small hand muscles, upper limb spasticity, and presumably IGE. The epilepsy co-segregated with HSP in the family. Conclusion: NIPA1 mutations were rare in our...

  6. Hereditary spastic paraplegia: More than an upper motor neuron disease.

    Science.gov (United States)

    Parodi, L; Fenu, S; Stevanin, G; Durr, A

    2017-05-01

    Hereditary spastic paraplegias (HSPs) are a group of rare inherited neurological diseases characterized by extreme heterogeneity in both their clinical manifestations and genetic backgrounds. Based on symptoms, HSPs can be divided into pure forms, presenting with pyramidal signs leading to lower-limb spasticity, and complex forms, when additional neurological or extraneurological symptoms are detected. The clinical diversity of HSPs partially reflects their underlying genetic backgrounds. To date, 76 loci and 58 corresponding genes [spastic paraplegia genes (SPGs)] have been linked to HSPs. The genetic diagnosis is further complicated by the fact that causative mutations of HSP can be inherited through all possible modes of transmission (autosomal-dominant and -recessive, X-linked, maternal), with some genes showing multiple inheritance patterns. The pathogenic mutations of SPGs primarily lead to progressive degeneration of the upper motor neurons (UMNs) comprising corticospinal tracts. However, it is possible to observe lower-limb muscle atrophy and fasciculations on clinical examination that are clear signs of lower motor neuron (LMN) involvement. The purpose of this review is to classify HSPs based on their degree of motor neuron involvement, distinguishing forms in which only UMNs are affected from those involving both UMN and LMN degeneration, and to describe their differential diagnosis from diseases such as amyotrophic lateral sclerosis. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  7. Full Body Gait Analysis May Improve Diagnostic Discrimination Between Hereditary Spastic Paraplegia and Spastic Diplegia: A Preliminary Study

    Science.gov (United States)

    Bonnefoy-Mazure, A.; Turcot, K.; Kaelin, A.; De Coulon, G.; Armand, S.

    2013-01-01

    Hereditary spastic paraplegia (HSP) and spastic diplegia (SD) patients share a strong clinical resemblance. Thus, HSP patients are frequently misdiagnosed with a mild form of SD. Clinical gait analysis (CGA) has been highlighted as a possible tool to support the differential diagnosis of HSP and SD. Previous analysis has focused on the lower-body…

  8. Motor activation in SPG4-linked hereditary spastic paraplegia

    DEFF Research Database (Denmark)

    Scheuer, KH; Nielsen, JE; Krabbe, Katja

    2006-01-01

    OBJECTIVE: The aim of this study was to investigate the extent of motor cortical functional reorganisation in patients with SPG4-linked hereditary spastic paraplegia by exploring cortical motor activation related to movements of clinically affected (lower) and unaffected (upper) limbs. METHODS......: Thirteen patients and 13 normal controls matched for age, gender and handedness underwent O15-labelled water positron emission tomography during (1) right ankle flexion-extension, (2) right shoulder flexion-extension and (3) rest. Within-group comparisons of movement vs. rest (simple main effects......, the supplementary motor areas and the right premotor cortex compared to controls. CONCLUSIONS: Motor cortical reorganisation may explain this result, but as no significant differences were recognised in the motor response of the unaffected limb, differences in functional demands should also be considered...

  9. Multigeneration family with dominant SPG30 hereditary spastic paraplegia.

    Science.gov (United States)

    Roda, Ricardo H; Schindler, Alice B; Blackstone, Craig

    2017-11-01

    Autosomal recessive KIF1A missense mutations cause hereditary spastic paraplegia (HSP) type SPG30, while recessive truncations lead to sensory and autonomic neuropathy (HSN2C) and many de novo missense mutations are associated with cognitive impairment. Here, we describe family members across three generations with pure HSP. A heterozygous p.Ser69Leu KIF1A mutation segregates with those afflicted. The same variant was previously reported in a Finnish father and son with pure HSP as well as four members of a Sicilian kindred with more intrafamilial phenotypic variability. This further validates the pathogenicity of the p.Ser69Leu mutation and suggests that it may represent a mutation hot spot.

  10. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.

    Science.gov (United States)

    Casari, G; De Fusco, M; Ciarmatori, S; Zeviani, M; Mora, M; Fernandez, P; De Michele, G; Filla, A; Cocozza, S; Marconi, R; Dürr, A; Fontaine, B; Ballabio, A

    1998-06-12

    Hereditary spastic paraplegia (HSP) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. We found that patients from a chromosome 16q24.3-linked HSP family are homozygous for a 9.5 kb deletion involving a gene encoding a novel protein, named Paraplegin. Two additional Paraplegin mutations, both resulting in a frameshift, were found in a complicated and in a pure form of HSP. Paraplegin is highly homologous to the yeast mitochondrial ATPases, AFG3, RCA1, and YME1, which have both proteolytic and chaperon-like activities at the inner mitochondrial membrane. Immunofluorescence analysis and import experiments showed that Paraplegin localizes to mitochondria. Analysis of muscle biopsies from two patients carrying Paraplegin mutations showed typical signs of mitochondrial OXPHOS defects, thus suggesting a mechanism for neurodegeneration in HSP-type disorders.

  11. Hereditary spastic paraplegia and amyotrophy associated with a novel locus on chromosome 19

    Science.gov (United States)

    Meilleur, K.G.; Traoré, M.; Sangaré, M.; Britton, A.; Landouré, G.; Coulibaly, S.; Niaré, B.; Mochel, F.; La Pean, A.; Rafferty, I.; Watts, C.; Littleton-Kearney, M. T.; Blackstone, C.; Singleton, A.; Fischbeck, K.H.

    2010-01-01

    We identified a family in Mali with two sisters affected by spastic paraplegia. In addition to spasticity and weakness of the lower limbs, the patients had marked atrophy of the distal upper extremities. Homozygosity mapping using single nucleotide polymorphism arrays showed that the sisters shared a region of extended homozygosity at chromosome 19p13.11-q12 that was not shared by controls. These findings indicate a clinically and genetically distinct form of hereditary spastic paraplegia with amyotrophy, designated SPG43. PMID:20039086

  12. Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

    Science.gov (United States)

    Renvoisé, Benoît; Chang, Jaerak; Singh, Rajat; Yonekawa, Sayuri; FitzGibbon, Edmond J; Mankodi, Ami; Vanderver, Adeline; Schindler, Alice B; Toro, Camilo; Gahl, William A; Mahuran, Don J; Blackstone, Craig; Pierson, Tyler Mark

    2014-01-01

    Objective Hereditary spastic paraplegias (HSPs) are among the most genetically diverse inherited neurological disorders, with over 70 disease loci identified (SPG1-71) to date. SPG15 and SPG11 are clinically similar, autosomal recessive disorders characterized by progressive spastic paraplegia along with thin corpus callosum, white matter abnormalities, cognitive impairment, and ophthalmologic abnormalities. Furthermore, both have been linked to early-onset parkinsonism. Methods We describe two new cases of SPG15 and investigate cellular changes in SPG15 and SPG11 patient-derived fibroblasts, seeking to identify shared pathogenic themes. Cells were evaluated for any abnormalities in cell division, DNA repair, endoplasmic reticulum, endosomes, and lysosomes. Results Fibroblasts prepared from patients with SPG15 have selective enlargement of LAMP1-positive structures, and they consistently exhibited abnormal lysosomal storage by electron microscopy. A similar enlargement of LAMP1-positive structures was also observed in cells from multiple SPG11 patients, though prominent abnormal lysosomal storage was not evident. The stabilities of the SPG15 protein spastizin/ZFYVE26 and the SPG11 protein spatacsin were interdependent. Interpretation Emerging studies implicating these two proteins in interactions with the late endosomal/lysosomal adaptor protein complex AP-5 are consistent with shared abnormalities in lysosomes, supporting a converging mechanism for these two disorders. Recent work with Zfyve26−/− mice revealed a similar phenotype to human SPG15, and cells in these mice had endolysosomal abnormalities. SPG15 and SPG11 are particularly notable among HSPs because they can also present with juvenile parkinsonism, and this lysosomal trafficking or storage defect may be relevant for other forms of parkinsonism associated with lysosomal dysfunction. PMID:24999486

  13. Modeling neurodevelopment and cortical dysfunction in SPG11-linked hereditary spastic paraplegia using human induced pluripotent stem cells

    OpenAIRE

    Mishra, Himanshu Kumar

    2016-01-01

    Hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited motor neuron diseases characterized by progressive spasticity and weakness of the lower limbs. Mutations in the Spastic Paraplegia Gene11 (SPG11), encoding spatacsin, cause the most frequent form of autosomal recessive HSP. SPG11 patients are clinically distinguishable from most other HSPs, by severe cortical atrophy and presence of a thin corpus callosum (TCC), associated with cognitive deficits. Partly due to l...

  14. Prenatal diagnosis of autosomal dominant hereditary spastic paraplegia (SPG4) using direct mutation detection

    DEFF Research Database (Denmark)

    Nielsen, Jørgen E; Koefoed, Pernille; Kjaergaard, Susanne

    2004-01-01

    OBJECTIVE: To present a report on prenatal diagnosis using direct SPG4 gene analysis in a family with autosomal dominant hereditary spastic paraplegia (AD-HSP). METHODS: Genetic linkage and haplotype analysis were previously carried out with chromosome 2p markers. DNA was obtained from affected...... individuals, the affected father, the mother, and fetal DNA from an ongoing pregnancy by chorionic villus sampling (CVS) in the first trimester. The spastin gene (SPG4) was completely sequenced. RESULTS: A novel 832insGdelAA frameshift mutation, predicted to cause loss of functional protein, was identified...... in the affected father and in the fetal DNA. CONCLUSIONS: This is the first report on direct prenatal diagnosis of chromosome 2p-linked AD-HSP (SPG4). In addition, we report a novel SPG4-combined small insertion/deletion mutation in exon 5, which may be the first SPG4 mutational hot spot....

  15. SPG10 is a rare cause of spastic paraplegia in European families.

    NARCIS (Netherlands)

    Schule, R.; Kremer, H.P.H.; Kassubek, J.; Auer-Grumbach, M.; Kostic, V.; Klopstock, T.; Klimpe, S.; Otto, S.; Boesch, S.; Warrenburg, B.P.C. van de; Schols, L.

    2008-01-01

    BACKGROUND: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date. OBJECTIVE: To determine the

  16. Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.

    NARCIS (Netherlands)

    Schule, R.; Bonin, M.; Durr, A.; Forlani, S.; Sperfeld, A.D.; Klimpe, S.; Mueller, J.C.; Seibel, A.; Warrenburg, B.P.C. van de; Bauer, P.; Schols, L.

    2009-01-01

    OBJECTIVE: Hereditary spastic paraplegias (HSP) are genetically exceedingly heterogeneous. To date, 37 genetic loci for HSP have been described (SPG1-41), among them 16 loci for autosomal dominant disease. Notwithstanding, further genetic heterogeneity is to be expected in HSP, as various HSP

  17. SPG10 is a rare cause of spastic paraplegia in European families

    NARCIS (Netherlands)

    Schuele, R.; Kremer, B. P. H.; Kassubek, J.; Auer-Grumbach, M.; Kostic, V.; Klopstock, T.; Klimpe, S.; Otto, S.; Boesch, S.; van de Warrenburg, B. P.; Schoels, L.

    Background: SPG10 is an autosomal dominant form of hereditary spastic paraplegia (HSP), which is caused by mutations in the neural kinesin heavy chain KIF5A gene, the neuronal motor of fast anterograde axonal transport. Only four mutations have been identified to date. Objective: To determine the

  18. Serial casting for neuromuscular flatfoot and vertical talus in an adolescent with hereditary spastic paraplegia.

    Science.gov (United States)

    Sweet, Laurene A; OʼNeill, Lindsey M; Dobbs, Matthew B

    2014-01-01

    The purpose of this report is to explore assessment and serial casting intervention for painful rigid flatfoot deformities with vertical talus in an adolescent girl with hereditary spastic paraplegia who was nonambulatory. The participant's right foot underwent 2 phases of casting with correction first toward hindfoot inversion and then dorsiflexion. Because of a vertical talus, her left foot required an intermediate casting toward plantar flexion, inversion, and forefoot adduction prior to casting toward dorsiflexion. The patient improved despite the underlying progressive neuromuscular disorder. Pain ameliorated and she returned to supported standing and transfers. Spasticity decreased bilaterally and the flexibility of her foot deformities improved to allow orthotic fabrication in subtalar neutral. Results were maintained at 12 and 16 months. Individualized multiphase serial casting requires further investigation with patients such as those with hereditary spastic paraplegia.

  19. SPG20 mutation in three siblings with familial hereditary spastic paraplegia.

    Science.gov (United States)

    Dardour, Leila; Roelens, Filip; Race, Valerie; Souche, Erika; Holvoet, Maureen; Devriendt, Koen

    2017-07-01

    Troyer syndrome (MIM#275900) is an autosomal recessive form of complicated hereditary spastic paraplegia. It is characterized by progressive lower extremity spasticity and weakness, dysarthria, distal amyotrophy, developmental delay, short stature, and subtle skeletal abnormalities. It is caused by deleterious mutations in the SPG20 gene, encoding spartin, on Chromosome 13q13. Until now, six unrelated families with a genetically confirmed diagnosis have been reported. Here we report the clinical findings in three brothers of a consanguineous Moroccan family, aged 24, 17, and 7 yr old, with spastic paraplegia, short stature, motor and cognitive delay, and severe intellectual disability. Targeted exon capture and sequencing showed a homozygous nonsense mutation in the SPG20 gene, c.1369C>T (p.Arg457*), in the three affected boys. © 2017 Dardour et al.; Published by Cold Spring Harbor Laboratory Press.

  20. In Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11.

    Directory of Open Access Journals (Sweden)

    Rita-Eva Varga

    2015-08-01

    Full Text Available Hereditary spastic paraplegia (HSP is characterized by a dying back degeneration of corticospinal axons which leads to progressive weakness and spasticity of the legs. SPG11 is the most common autosomal-recessive form of HSPs and is caused by mutations in SPG11. A recent in vitro study suggested that Spatacsin, the respective gene product, is needed for the recycling of lysosomes from autolysosomes, a process known as autophagic lysosome reformation. The relevance of this observation for hereditary spastic paraplegia, however, has remained unclear. Here, we report that disruption of Spatacsin in mice indeed causes hereditary spastic paraplegia-like phenotypes with loss of cortical neurons and Purkinje cells. Degenerating neurons accumulate autofluorescent material, which stains for the lysosomal protein Lamp1 and for p62, a marker of substrate destined to be degraded by autophagy, and hence appears to be related to autolysosomes. Supporting a more generalized defect of autophagy, levels of lipidated LC3 are increased in Spatacsin knockout mouse embryonic fibrobasts (MEFs. Though distinct parameters of lysosomal function like processing of cathepsin D and lysosomal pH are preserved, lysosome numbers are reduced in knockout MEFs and the recovery of lysosomes during sustained starvation impaired consistent with a defect of autophagic lysosome reformation. Because lysosomes are reduced in cortical neurons and Purkinje cells in vivo, we propose that the decreased number of lysosomes available for fusion with autophagosomes impairs autolysosomal clearance, results in the accumulation of undegraded material and finally causes death of particularly sensitive neurons like cortical motoneurons and Purkinje cells in knockout mice.

  1. Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

    Science.gov (United States)

    Hirst, Jennifer; Madeo, Marianna; Smets, Katrien; Edgar, James R.; Schols, Ludger; Li, Jun; Yarrow, Anna; Deconinck, Tine; Baets, Jonathan; Van Aken, Elisabeth; De Bleecker, Jan; Datiles, Manuel B.; Roda, Ricardo H.; Liepert, Joachim; Züchner, Stephan; Mariotti, Caterina; De Jonghe, Peter; Blackstone, Craig

    2016-01-01

    Objective: Biallelic mutations in the AP5Z1 gene encoding the AP-5 ζ subunit have been described in a small number of patients with hereditary spastic paraplegia (HSP) (SPG48); we sought to define genotype–phenotype correlations in patients with homozygous or compound heterozygous sequence variants predicted to be deleterious. Methods: We performed clinical, radiologic, and pathologic studies in 6 patients with biallelic mutations in AP5Z1. Results: In 4 of the 6 patients, there was complete loss of AP-5 ζ protein. Clinical features encompassed not only prominent spastic paraparesis but also sensory and motor neuropathy, ataxia, dystonia, myoclonus, and parkinsonism. Skin fibroblasts from affected patients tested positive for periodic acid Schiff and autofluorescent storage material, while electron microscopic analysis demonstrated lamellar storage material consistent with abnormal storage of lysosomal material. Conclusions: Our findings expand the spectrum of AP5Z1-associated neurodegenerative disorders and point to clinical and pathophysiologic overlap between autosomal recessive forms of HSP and lysosomal storage disorders. PMID:27606357

  2. Co-segregation of Huntington disease and hereditary spastic paraplegia in 4 generations.

    Science.gov (United States)

    Panas, Marios; Karadima, Georgia; Kalfakis, Nikolaos; Vassilopoulos, Dimitris

    2011-07-01

    Huntington disease (HD) is an autosomal dominant neurodegenerative disease characterized by choreic hyperkinesias, cognitive decline, and psychiatric manifestations, caused by an increased number of CAG repeats in the IT15 gene on chromosome 4p16.3. Silver syndrome is a rare autosomal dominant form of complicated hereditary spastic paraplegia, characterized by lower limb spasticity in addition to amyotrophy of the small muscles of the hands. In addition to the previously identified locus SPG17 on chromosome 11q12-q14, a new locus (SPG38) on chromosome 4p16-p15 has been recently identified, a region that includes the HD gene. We present a Greek family with 5 members diagnosed with HD in 4 generations. All affected members also presented with clinical features of Silver syndrome showing severe spastic paraplegia and prominent atrophy of all small hand muscles bilaterally. None of the other family members showed features of either HD or spastic paraplegia. The reported coexistence of Silver syndrome with HD in 4 generations is not fortuitous, suggesting that these 2 distinct genetic disorders are in linkage disequilibrium. Although rare, it is reasonable to expect additional similar cases. Clinical neurologists should perhaps investigate this possibility in cases combining features of HD and involvement of the upper and lower motor neurons.

  3. Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias.

    Science.gov (United States)

    Timmerman, Vincent; Clowes, Virginia E; Reid, Evan

    2013-08-01

    In this review we focus on Charcot-Marie-Tooth (CMT) neuropathies and hereditary spastic paraplegias (HSPs). Although these diseases differ in whether they primarily affect the peripheral or central nervous system, both are genetically determined, progressive, long axonopathies that affect motor and sensory pathways. This commonality suggests that there might be similarities in the molecular pathology underlying these conditions, and here we compare the molecular genetics and cellular pathology of the two groups. Copyright © 2012 Elsevier Inc. All rights reserved.

  4. Non-motor Symptoms In Patients With Hereditary Spastic Paraplegia Caused By Spg4 Mutations.

    OpenAIRE

    Servelhere, K R; Faber, I; Saute, J A M; Moscovich, M; D'Abreu, A; Jardim, L B; Teive, H A G; Lopes-Cendes, I; Franca, M C

    2016-01-01

    Non-motor manifestations are frequently overlooked in degenerative disorders and little is known about their frequency and clinical relevance in SPG4 hereditary spastic paraplegia (SPG4-HSP). Thirty patients with SPG4-HSP and 30 healthy controls answered the Modified Fatigue Impact Scale, Epworth Sleepiness Scale, Brief Pain Inventory and Beck Depression Inventory. Student's t test was used to compare groups and linear regression was used to assess correlations. Patients had higher fatigue sc...

  5. Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy.

    Science.gov (United States)

    López, Eva; Casasnovas, Carlos; Giménez, Javier; Santamaría, Raúl; Terrazas, Jesús M; Volpini, Víctor

    2015-11-15

    Spastic paraplegia type 10 (SPG10) is a rare form of autosomal dominant hereditary spastic paraplegia (AD-HSP) due to mutations in KIF5A, a gene encoding the neuronal kinesin heavy-chain involved in axonal transport. KIF5A mutations have been associated with a wide clinical spectrum, ranging from pure HSP to isolated peripheral nerve involvement or complicated HSP phenotypes. Most KIF5A mutations are clustered in the motor domain of the protein that is necessary for microtubule interaction. Here we describe two Spanish families with an adult onset complicated AD-HSP in which neurological studies revealed a mild sensory neuropathy. Intention tremor was also present in both families. Molecular genetic analysis identified two novel mutations c.773 C>T and c.833 C>T in the KIF5A gene resulting in the P258L and P278L substitutions respectively. Both were located in the highly conserved kinesin motor domain of the protein which has previously been identified as a hot spot for KIF5A mutations. This study adds to the evidence associating the known occurrence of mild peripheral neuropathy in the adult onset SPG10 type of AD-HSP. Copyright © 2015 Elsevier B.V. All rights reserved.

  6. A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system.

    Directory of Open Access Journals (Sweden)

    Mukhran Khundadze

    Full Text Available Hereditary spastic paraplegias (HSPs are characterized by progressive weakness and spasticity of the legs because of the degeneration of cortical motoneuron axons. SPG15 is a recessively inherited HSP variant caused by mutations in the ZFYVE26 gene and is additionally characterized by cerebellar ataxia, mental decline, and progressive thinning of the corpus callosum. ZFYVE26 encodes the FYVE domain-containing protein ZFYVE26/SPASTIZIN, which has been suggested to be associated with the newly discovered adaptor protein 5 (AP5 complex. We show that Zfyve26 is broadly expressed in neurons, associates with intracellular vesicles immunopositive for the early endosomal marker EEA1, and co-fractionates with a component of the AP5 complex. As the function of ZFYVE26 in neurons was largely unknown, we disrupted Zfyve26 in mice. Zfyve26 knockout mice do not show developmental defects but develop late-onset spastic paraplegia with cerebellar ataxia confirming that SPG15 is caused by ZFYVE26 deficiency. The morphological analysis reveals axon degeneration and progressive loss of both cortical motoneurons and Purkinje cells in the cerebellum. Importantly, neuron loss is preceded by accumulation of large intraneuronal deposits of membrane-surrounded material, which co-stains with the lysosomal marker Lamp1. A density gradient analysis of brain lysates shows an increase of Lamp1-positive membrane compartments with higher densities in Zfyve26 knockout mice. Increased levels of lysosomal enzymes in brains of aged knockout mice further support an alteration of the lysosomal compartment upon disruption of Zfyve26. We propose that SPG15 is caused by an endolysosomal membrane trafficking defect, which results in endolysosomal dysfunction. This appears to be particularly relevant in neurons with highly specialized neurites such as cortical motoneurons and Purkinje cells.

  7. Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia

    DEFF Research Database (Denmark)

    Steenhof, Maria; Kibæk, Maria; Larsen, Martin J.

    2018-01-01

    with mutations affecting the GR5P domain. We present a 19-year old male patient with autosomal recessive spastic paraplegia and compound heterozygosity for two ALDH18A1 mutations, one in each of the P5CS domains. This young man has spastic paraplegia with onset in childhood and temporal lobe epilepsy, but normal...

  8. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

    DEFF Research Database (Denmark)

    Hardies, Katia; May, Patrick; Djémié, Tania

    2015-01-01

    We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the σ subunit of the adaptor protein complex 4 (AP-4). The effect of the predicted loss-of-...... in reported patients, highlighting that seizures are part of the clinical manifestation of the AP-4 deficiency syndrome. We also hypothesize that endosomal trafficking is a common theme between heritable spastic paraplegia and some inherited epilepsies....

  9. Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

    Science.gov (United States)

    Esteves, Typhaine; Durr, Alexandra; Mundwiller, Emeline; Loureiro, José L.; Boutry, Maxime; Gonzalez, Michael A.; Gauthier, Julie; El-Hachimi, Khalid H.; Depienne, Christel; Muriel, Marie-Paule; Acosta Lebrigio, Rafael F.; Gaussen, Marion; Noreau, Anne; Speziani, Fiorella; Dionne-Laporte, Alexandre; Deleuze, Jean-François; Dion, Patrick; Coutinho, Paula; Rouleau, Guy A.; Zuchner, Stephan; Brice, Alexis; Stevanin, Giovanni; Darios, Frédéric

    2014-01-01

    Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurological conditions. Their main pathogenic mechanisms are thought to involve alterations in endomembrane trafficking, mitochondrial function, and lipid metabolism. With a combination of whole-genome mapping and exome sequencing, we identified three mutations in REEP2 in two families with HSP: a missense variant (c.107T>A [p.Val36Glu]) that segregated in the heterozygous state in a family with autosomal-dominant inheritance and a missense change (c.215T>A [p.Phe72Tyr]) that segregated in trans with a splice site mutation (c.105+3G>T) in a family with autosomal-recessive transmission. REEP2 belongs to a family of proteins that shape the endoplasmic reticulum, an organelle that was altered in fibroblasts from an affected subject. In vitro, the p.Val36Glu variant in the autosomal-dominant family had a dominant-negative effect; it inhibited the normal binding of wild-type REEP2 to membranes. The missense substitution p.Phe72Tyr, in the recessive family, decreased the affinity of the mutant protein for membranes that, together with the splice site mutation, is expected to cause complete loss of REEP2 function. Our findings illustrate how dominant and recessive inheritance can be explained by the effects and nature of mutations in the same gene. They have also important implications for genetic diagnosis and counseling in clinical practice because of the association of various modes of inheritance to this new clinico-genetic entity. PMID:24388663

  10. Cognitive dysfunction in hereditary spastic paraplegias and other motor neuron disorders

    Directory of Open Access Journals (Sweden)

    Ingrid Faber

    Full Text Available ABSTRACT Hereditary spastic paraplegia (HSP is a diverse group of single-gene disorders that share the predominant clinical feature of progressive lower limb spasticity and weakness. More than 70 different genetic subtypes have been described and all modes of inheritance are possible. Intellectual dysfunction in HSP is frequent in recessive forms but rare in dominant families. It may manifest by either mental retardation and/or cognitive decline. The latter may be subtle, restricted to executive dysfunction or may evolve to severe dementia. The cognitive profile is thought to depend largely on the genetic subtype of HSP, although wide phenotypic variability within the same genetic subtype and also within the same family can be found.

  11. Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24.

    Science.gov (United States)

    Schüle, R; Bonin, M; Dürr, A; Forlani, S; Sperfeld, A D; Klimpe, S; Mueller, J C; Seibel, A; van de Warrenburg, B P; Bauer, P; Schöls, L

    2009-06-02

    Hereditary spastic paraplegias (HSP) are genetically exceedingly heterogeneous. To date, 37 genetic loci for HSP have been described (SPG1-41), among them 16 loci for autosomal dominant disease. Notwithstanding, further genetic heterogeneity is to be expected in HSP, as various HSP families do not link to any of the known HSP loci. In this study, we aimed to map the disease locus in a German family segregating autosomal dominant complicated HSP. A genome-wide linkage analysis was performed using the GeneChip Mapping 10Kv2.0 Xba Array containing 10,204 SNP markers. Suggestive loci were further analyzed by mapping of microsatellite markers. One locus on chromosome 12q23-24, termed SPG36, was confirmed by high density microsatellite fine mapping with a significant LOD score of 3.2. SPG36 is flanked by markers D12S318 and D12S79. Linkage to SPG36 was excluded in >20 additional autosomal dominant HSP families. Candidate genes were selected and sequenced. No disease-causing mutations were identified in the coding regions of ATXN2, HSPB8, IFT81, Myo1H, UBE3B, and VPS29. SPG36 is complicated by a sensory and motor neuropathy; it is therefore the eighth autosomal dominant subtype of complicated HSP. We report mapping of a new locus for autosomal dominant hereditary spastic paraplegia (HSP) (SPG36) on chromosome 12q23-24 in a German family with autosomal dominant HSP complicated by peripheral neuropathy.

  12. Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes

    Directory of Open Access Journals (Sweden)

    Wiethoff Sarah

    2012-11-01

    Full Text Available Abstract Background Reduction of retinal nerve fibre layer (RNFL thickness was shown as part of the neurodegenerative process in a range of different neurodegenerative pathologies including Alzheimer′s disease (AD, idiopathic Parkinson’s disease (PD, spinocerebellar ataxia (SCA and multiple system atrophy (MSA. To further clarify the specificity of RNFL thinning as a potential marker of neurodegenerative diseases we investigated RNFL thickness in Hereditary Spastic Paraplegia (HSP, an axonal, length-dependent neurodegenerative pathology of the upper motor neurons. Methods Spectral domain optical coherence tomography (OCT was performed in 28 HSP patients (clinically: pure HSP = 22, complicated HSP = 6; genetic subtypes: SPG4 = 13, SPG5 = 1, SPG7 = 3, genetically unclassified: 11 to quantify peripapillary RNFL thickness. Standardized examination assessed duration of disease, dependency on assistive walking aids and severity of symptoms quantified with Spastic Paraplegia Rating Scale (SPRS. Results HSP patients demonstrated no significant thinning of global RNFL (pglobal = 0.61. Subgroup analysis revealed significant reduction in temporal and temporal inferior sectors for patients with complex (p Conclusion Clinically pure HSP patients feature no significant reduction in RNFL, whereas complex phenotypes display an abnormal thinning of temporal and temporal inferior RNFL. Our data indicate that RNFL thinning does not occur unspecifically in all neurodegenerative diseases but is in HSP restricted to subtypes with multisystemic degeneration.

  13. A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport

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    Brown Anthony

    2010-11-01

    Full Text Available Abstract Background Hereditary spastic paraplegias are a group of neurological disorders characterized by progressive distal degeneration of the longest ascending and descending axons in the spinal cord, leading to lower limb spasticity and weakness. One of the dominantly inherited forms of this disease (spastic gait type 10, or SPG10 is caused by point mutations in kinesin-1A (also known as KIF5A, which is thought to be an anterograde motor for neurofilaments. Results We investigated the effect of an SPG10 mutation in kinesin-1A (N256S-kinesin-1A on neurofilament transport in cultured mouse cortical neurons using live-cell fluorescent imaging. N256S-kinesin-1A decreased both anterograde and retrograde neurofilament transport flux by decreasing the frequency of anterograde and retrograde movements. Anterograde velocity was not affected, whereas retrograde velocity actually increased. Conclusions These data reveal subtle complexities to the functional interdependence of the anterograde and retrograde neurofilament motors and they also raise the possibility that anterograde and retrograde neurofilament transport may be disrupted in patients with SPG10.

  14. Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.

    Science.gov (United States)

    Rinaldi, Carlo; Schmidt, Thomas; Situ, Alan J; Johnson, Janel O; Lee, Philip R; Chen, Ke-Lian; Bott, Laura C; Fadó, Rut; Harmison, George H; Parodi, Sara; Grunseich, Christopher; Renvoisé, Benoît; Biesecker, Leslie G; De Michele, Giuseppe; Santorelli, Filippo M; Filla, Alessandro; Stevanin, Giovanni; Dürr, Alexandra; Brice, Alexis; Casals, Núria; Traynor, Bryan J; Blackstone, Craig; Ulmer, Tobias S; Fischbeck, Kenneth H

    2015-05-01

    The family of genes implicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly owing to the widespread availability of next-generation DNA sequencing methods. Nevertheless, a genetic diagnosis remains unavailable for many patients. To identify the genetic cause for a novel form of pure autosomal dominant HSP. We examined and followed up with a family presenting to a tertiary referral center for evaluation of HSP for a decade until August 2014. Whole-exome sequencing was performed in 4 patients from the same family and was integrated with linkage analysis. Sanger sequencing was used to confirm the presence of the candidate variant in the remaining affected and unaffected members of the family and screen the additional patients with HSP. Five affected and 6 unaffected participants from a 3-generation family with pure adult-onset autosomal dominant HSP of unknown genetic origin were included. Additionally, 163 unrelated participants with pure HSP of unknown genetic cause were screened. Mutation in the neuronal isoform of carnitine palmitoyl-transferase (CPT1C) gene. We identified the nucleotide substitution c.109C>T in exon 3 of CPT1C, which determined the base substitution of an evolutionarily conserved Cys residue for an Arg in the gene product. This variant strictly cosegregated with the disease phenotype and was absent in online single-nucleotide polymorphism databases and in 712 additional exomes of control participants. We showed that CPT1C, which localizes to the endoplasmic reticulum, is expressed in motor neurons and interacts with atlastin-1, an endoplasmic reticulum protein encoded by the ATL1 gene known to be mutated in pure HSPs. The mutation, as indicated by nuclear magnetic resonance spectroscopy studies, alters the protein conformation and reduces the mean (SD) number (213.0 [46.99] vs 81.9 [14.2]; P lipid droplets on overexpression in cells. We also observed a reduction of mean (SD) lipid droplets in primary cortical neurons

  15. Targeted NGS meets expert clinical characterization: Efficient diagnosis of spastic paraplegia type 11

    Directory of Open Access Journals (Sweden)

    Cristina Castro-Fernández

    2015-06-01

    Full Text Available Next generation sequencing (NGS is transforming the diagnostic approach for neurological disorders, since it allows simultaneous analysis of hundreds of genes, even based on just a broad, syndromic patient categorization. However, such an approach bears a high risk of incidental and uncertain genetic findings. We report a patient with spastic paraplegia whose comprehensive neurological and imaging examination raised a high clinical suspicion of SPG11. Thus, although our NGS pipeline for this group of disorders includes gene panel and exome sequencing, in this sample only the spatacsin gene region was captured and subsequently searched for mutations. Two probably pathogenic variants were quickly and clearly identified, confirming the diagnosis of SPG11. This case illustrates how combination of expert clinical characterization with highly oriented NGS protocols leads to a fast, cost-efficient diagnosis, minimizing the risk of findings with unclear significance.

  16. Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.

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    Andrea Martinuzzi

    Full Text Available Hereditary spastic paraplegias (HSP are a composite and genetically heterogeneous group of conditions mainly expressed by the impairment of the central motor system ("pure" forms. The involvement of other components of the central nervous system or of other systems is described in the "complicate" forms. The definition of an investigation protocol capable, by assembling clinical and paraclinical indicators to fully represent the extent of the motor system impairment, would help both the clinical handling of these conditions and contribute to our understanding of their pathogenesis.We applied a clinical and paraclinical protocol which included tools exploring motor and non motor functioning, neurophysiology and MRI to a composite cohort of 70 molecularly defined HSP patients aged 3 to 65, to define for each indicator its significance in detailing the presence and the severity of the pathology.Clinically increased deep tendon reflexes and lower limb (LL weakness are constant findings in all patients. The "complicated" forms are characterized by peripheral motor impairment, cognitive and cerebellar involvement. The Spastic Paraplegia Rating Scale efficiently reflects the severity of functional problems and correlates with disease duration. Neurophysiology consistently documents the impairment of the central motor pathway to the LLs. Nevertheless, the upper extremities and sensory system involvement is a frequent finding. MRI diffusion tensor imaging (DTI highlighted a significant alteration of FA and MD. Combining the sampling of the various portion of the cortico-spinal tract (CST DTI consistently discriminated patients from controls.We propose a graded clinical and paraclinical protocol for HSP phenotype definition, indicating for each tool the discriminative and descriptive capacity. Our protocol applied to 9 different forms of HSP showed that the functional impairment often extends beyond the CST. The novel DTI approach may add significant

  17. Clinical and Paraclinical Indicators of Motor System Impairment in Hereditary Spastic Paraplegia: A Pilot Study.

    Science.gov (United States)

    Martinuzzi, Andrea; Montanaro, Domenico; Vavla, Marinela; Paparella, Gabriella; Bonanni, Paolo; Musumeci, Olimpia; Brighina, Erika; Hlavata, Hana; Rossi, Giuseppe; Aghakhanyan, Gayane; Martino, Nicola; Baratto, Alessandra; D'Angelo, Maria Grazia; Peruch, Francesca; Fantin, Marianna; Arnoldi, Alessia; Citterio, Andrea; Vantaggiato, Chiara; Rizzo, Vincenzo; Toscano, Antonio; Bresolin, Nereo; Bassi, Maria Teresa

    2016-01-01

    Hereditary spastic paraplegias (HSP) are a composite and genetically heterogeneous group of conditions mainly expressed by the impairment of the central motor system ("pure" forms). The involvement of other components of the central nervous system or of other systems is described in the "complicate" forms. The definition of an investigation protocol capable, by assembling clinical and paraclinical indicators to fully represent the extent of the motor system impairment, would help both the clinical handling of these conditions and contribute to our understanding of their pathogenesis. We applied a clinical and paraclinical protocol which included tools exploring motor and non motor functioning, neurophysiology and MRI to a composite cohort of 70 molecularly defined HSP patients aged 3 to 65, to define for each indicator its significance in detailing the presence and the severity of the pathology. Clinically increased deep tendon reflexes and lower limb (LL) weakness are constant findings in all patients. The "complicated" forms are characterized by peripheral motor impairment, cognitive and cerebellar involvement. The Spastic Paraplegia Rating Scale efficiently reflects the severity of functional problems and correlates with disease duration. Neurophysiology consistently documents the impairment of the central motor pathway to the LLs. Nevertheless, the upper extremities and sensory system involvement is a frequent finding. MRI diffusion tensor imaging (DTI) highlighted a significant alteration of FA and MD. Combining the sampling of the various portion of the cortico-spinal tract (CST) DTI consistently discriminated patients from controls. We propose a graded clinical and paraclinical protocol for HSP phenotype definition, indicating for each tool the discriminative and descriptive capacity. Our protocol applied to 9 different forms of HSP showed that the functional impairment often extends beyond the CST. The novel DTI approach may add significant elements in

  18. Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients

    Science.gov (United States)

    de Bot, Susanne T; Burggraaff, Rogier C; Herkert, Johanna C; Schelhaas, Helenius J; Post, Bart; Diekstra, Adinda; van Vliet, Reinout O; van der Knaap, Marjo S; Kamsteeg, Erik-Jan; Scheffer, Hans; van de Warrenburg, Bart P; Verschuuren-Bemelmans, Corien C; Kremer, Hubertus PH

    2013-01-01

    Although SPG11 is the most common complicated hereditary spastic paraplegia, our knowledge of the long-term prognosis and life expectancy is limited. We therefore studied the disease course of all patients with a proven SPG11 mutation as tested in our laboratory, the single Dutch laboratory providing SPG11 mutation analysis, between 1 January 2009 and 1 January 2011. We identified nine different SPG11 mutations, four of which are novel, in nine index patients. Eighteen SPG11 patients from these nine families were studied by means of a retrospective chart analysis and additional interview/examination. Ages at onset were between 4 months and 14 years; 39% started with learning difficulties rather than gait impairment. Brain magnetic resonance imaging showed a thin corpus callosum and typical periventricular white matter changes in the frontal horn region (known as the ‘ears-of the lynx'-sign) in all. Most patients became wheelchair bound after a disease duration of 1 to 2 decades. End-stage disease consisted of loss of spontaneous speech, severe dysphagia, spastic tetraplegia with peripheral nerve involvement and contractures. Several patients died of complications between ages 30 and 48 years, 3–4 decades after onset of gait impairment. Other relevant features during the disease were urinary and fecal incontinence, obesity and psychosis. Our study of 18 Dutch SPG11-patients shows the potential serious long-term consequences of SPG11 including a possibly restricted life span. PMID:23443022

  19. SPG3A-linked hereditary spastic paraplegia associated with cerebral glucose hypometabolism.

    Science.gov (United States)

    Terada, Tatsuhiro; Kono, Satoshi; Ouchi, Yasuomi; Yoshida, Kenichi; Hamaya, Yasushi; Kanaoka, Shigeru; Miyajima, Hiroaki

    2013-04-01

    SPG3A-linked hereditary spastic paraplegia (HSP) is a rare autosomal dominant motor disorder caused by a mutation in the SPG3A gene, and is characterized by progressive motor weakness and spasticity in the lower limbs, without any other neurological abnormalities. SPG3A-linked HSP caused by a R239C mutation has been reported to present a pure phenotype confined to impairment of the corticospinal tract. However, there is still a debate about the etiology of this motor deficit with regard to whether it is peripheral or central. We herein report two patients who were heterozygous for a R239C mutation in the SPG3A gene. Two middle-aged Japanese sisters had been suffering from a pure phenotype of HSP since their childhood. Both patients had a significant decrease in glucose metabolism in the frontal cortex medially and dorsolaterally in a [(18)F]-fluorodeoxyglucose (FDG) positron emission photography (PET) study and low scores on the Frontal Assessment Battery. A real-time PCR analysis in normal subjects showed the frontal cortex to be the major location where SPG3A mRNA is expressed. The present finding that the frontal glucose hypometabolism was associated with frontal cognitive impairment indicates that widespread neuropathology associated with mutations in the SPG3A gene may be present more centrally than previously assumed.

  20. Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait

    Energy Technology Data Exchange (ETDEWEB)

    Dube, M.P.; Kibar, Z.; Rouleau, G.A. [McGill Univ., Quebec (Canada)] [and others

    1997-03-01

    Hereditary spastic paraplegia (HSP) is a degenerative disorder of the motor system, defined by progressive weakness and spasticity of the lower limbs. HSP may be inherited as an autosomal dominant (AD), autosomal recessive, or an X-linked trait. AD HSP is genetically heterogeneous, and three loci have been identified so far: SPG3 maps to chromosome 14q, SPG4 to 2p, and SPG4a to 15q. We have undertaken linkage analysis with 21 uncomplicated AD families to the three AD HSP loci. We report significant linkage for three of our families to the SPG4 locus and exclude several families by multipoint linkage. We used linkage information from several different research teams to evaluate the statistical probability of linkage to the SPG4 locus for uncomplicated AD HSP families and established the critical LOD-score value necessary for confirmation of linkage to the SPG4 locus from Bayesian statistics. In addition, we calculated the empirical P-values for the LOD scores obtained with all families with computer simulation methods. Power to detect significant linkage, as well as type I error probabilities, were evaluated. This combined analytical approach permitted conclusive linkage analyses on small to medium-size families, under the restrictions of genetic heterogeneity. 19 refs., 1 fig., 1 tab.

  1. Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait.

    Science.gov (United States)

    Dubé, M P; Mlodzienski, M A; Kibar, Z; Farlow, M R; Ebers, G; Harper, P; Kolodny, E H; Rouleau, G A; Figlewicz, D A

    1997-03-01

    Hereditary spastic paraplegia (HSP) is a degenerative disorder of the motor system, defined by progressive weakness and spasticity of the lower limbs. HSP may be inherited as an autosomal dominant (AD), autosomal recessive, or an X-linked trait. AD HSP is genetically heterogeneous, and three loci have been identified so far: SPG3 maps to chromosome 14q, SPG4 to 2p, and SPG4a to 15q. We have undertaken linkage analysis with 21 uncomplicated AD families to the three AD HSP loci. We report significant linkage for three of our families to the SPG4 locus and exclude several families by multipoint linkage. We used linkage information from several different research teams to evaluate the statistical probability of linkage to the SPG4 locus for uncomplicated AD HSP families and established the critical LOD-score value necessary for confirmation of linkage to the SPG4 locus from Bayesian statistics. In addition, we calculated the empirical P-values for the LOD scores obtained with all families with computer simulation methods. Power to detect significant linkage, as well as type I error probabilities, were evaluated. This combined analytical approach permitted conclusive linkage analyses on small to medium-size families, under the restrictions of genetic heterogeneity.

  2. Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.

    Science.gov (United States)

    Bettencourt, Conceição; Quintáns, Beatriz; Ros, Raquel; Ampuero, Israel; Yáñez, Zuleima; Pascual, Samuel Ignacio; de Yébenes, Justo García; Sobrido, María-Jesús

    2012-09-01

    Hereditary spastic paraplegias (HSPs) constitute a heterogeneous group of neurological disorders, characterized primarily by progressive spasticity and weakness of the lower limbs. HSPs are caused by mutations in multiple genes (at least 48 loci and 28 causative genes). The clinical spectrum of HSPs is wide and important differences have been reported between patients with distinct mutations in the same gene, or even between different family members bearing the same mutation. Many patients with HSP present clinical deficits related to the involvement of neuronal systems other than corticospinal tracts, namely, peripheral nerves, sensory, or cerebellar pathways. These cases may be difficult to differentiate from other neurological diseases (e.g., hereditary ataxias), also genetically and clinically heterogeneous. As an illustration of how overlapping this genotype-phenotype relationship is, and the difficulties that it brings upon the development of neurogenetic algorithms and databases, we review the main clinical and genetic features of HSPs, and summarize reports on cases of triplet-repeat spinocerebellar ataxias that can mimic HSP phenotypes. This complex scenario makes the necessity of high-quality, curated mutation databases even more urgent, in order to develop adequate diagnostic guidelines, correct interpretation of genetic testing, and appropriate genetic counseling. © 2012 Wiley Periodicals, Inc.

  3. Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.

    Science.gov (United States)

    Lynch, David S; Koutsis, Georgios; Tucci, Arianna; Panas, Marios; Baklou, Markella; Breza, Marianthi; Karadima, Georgia; Houlden, Henry

    2016-06-01

    Hereditary Spastic Paraplegia (HSP) is a syndrome characterised by lower limb spasticity, occurring alone or in association with other neurological manifestations, such as cognitive impairment, seizures, ataxia or neuropathy. HSP occurs worldwide, with different populations having different frequencies of causative genes. The Greek population has not yet been characterised. The purpose of this study was to describe the clinical presentation and molecular epidemiology of the largest cohort of HSP in Greece, comprising 54 patients from 40 families. We used a targeted next-generation sequencing (NGS) approach to genetically assess a proband from each family. We made a genetic diagnosis in >50% of cases and identified 11 novel variants. Variants in SPAST and KIF5A were the most common causes of autosomal dominant HSP, whereas SPG11 and CYP7B1 were the most common cause of autosomal recessive HSP. We identified a novel variant in SPG11, which led to disease with later onset and may be unique to the Greek population and report the first nonsense mutation in KIF5A. Interestingly, the frequency of HSP mutations in the Greek population, which is relatively isolated, was very similar to other European populations. We confirm that NGS approaches are an efficient diagnostic tool and should be employed early in the assessment of HSP patients.

  4. Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

    Science.gov (United States)

    Tesson, Christelle; Nawara, Magdalena; Salih, Mustafa A.M.; Rossignol, Rodrigue; Zaki, Maha S.; Al Balwi, Mohammed; Schule, Rebecca; Mignot, Cyril; Obre, Emilie; Bouhouche, Ahmed; Santorelli, Filippo M.; Durand, Christelle M.; Oteyza, Andrés Caballero; El-Hachimi, Khalid H.; Al Drees, Abdulmajeed; Bouslam, Naima; Lamari, Foudil; Elmalik, Salah A.; Kabiraj, Mohammad M.; Seidahmed, Mohammed Z.; Esteves, Typhaine; Gaussen, Marion; Monin, Marie-Lorraine; Gyapay, Gabor; Lechner, Doris; Gonzalez, Michael; Depienne, Christel; Mochel, Fanny; Lavie, Julie; Schols, Ludger; Lacombe, Didier; Yahyaoui, Mohamed; Al Abdulkareem, Ibrahim; Zuchner, Stephan; Yamashita, Atsushi; Benomar, Ali; Goizet, Cyril; Durr, Alexandra; Gleeson, Joseph G.; Darios, Frederic; Brice, Alexis; Stevanin, Giovanni

    2012-01-01

    Hereditary spastic paraplegia (HSP) is considered one of the most heterogeneous groups of neurological disorders, both clinically and genetically. The disease comprises pure and complex forms that clinically include slowly progressive lower-limb spasticity resulting from degeneration of the corticospinal tract. At least 48 loci accounting for these diseases have been mapped to date, and mutations have been identified in 22 genes, most of which play a role in intracellular trafficking. Here, we identified mutations in two functionally related genes (DDHD1 and CYP2U1) in individuals with autosomal-recessive forms of HSP by using either the classical positional cloning or a combination of whole-genome linkage mapping and next-generation sequencing. Interestingly, three subjects with CYP2U1 mutations presented with a thin corpus callosum, white-matter abnormalities, and/or calcification of the basal ganglia. These genes code for two enzymes involved in fatty-acid metabolism, and we have demonstrated in human cells that the HSP pathophysiology includes alteration of mitochondrial architecture and bioenergetics with increased oxidative stress. Our combined results focus attention on lipid metabolism as a critical HSP pathway with a deleterious impact on mitochondrial bioenergetic function. PMID:23176821

  5. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation

    DEFF Research Database (Denmark)

    Nielsen, Jørgen Erik; Johnson, B; Koefoed, Pernille

    2004-01-01

    Complex forms of hereditary spastic paraplegia (HSP) are rare and usually transmitted in an autosomal recessive pattern. A family of four generations with autosomal dominant hereditary spastic paraplegia (AD-HSP) and a complex phenotype with variably expressed co-existing ataxia, dysarthria......, unipolar depression, epilepsy, migraine, and cognitive impairment was investigated. Genetic linkage analysis and sequencing of the SPG4 gene was performed and electrophysiologic investigations were carried out in six individuals and positron emission tomography (PET) in one patient. The disease was linked...... in those individuals who were clinically affected by a complex phenotype consisting of HSP and cerebellar ataxia. Other features noted in this kindred including epilepsy, cognitive impairment, depression, and migraine did not segregate with the HSP phenotype or mutation, and therefore the significance...

  6. Low dose tubulin-binding drugs rescue peroxisome trafficking deficit in patient-derived stem cells in Hereditary Spastic Paraplegia

    Directory of Open Access Journals (Sweden)

    Yongjun Fan

    2014-05-01

    Full Text Available Hereditary Spastic Paraplegia (HSP is a genetically heterogeneous group of disorders, diagnosed by progressive gait disturbances with muscle weakness and spasticity, for which there are no treatments targeted at the underlying pathophysiology. Mutations in spastin are a common cause of HSP. Spastin is a microtubule-severing protein whose mutation in mouse causes defective axonal transport. In human patient-derived olfactory neurosphere-derived (ONS cells, spastin mutations lead to lower levels of acetylated α-tubulin, a marker of stabilised microtubules, and to slower speed of peroxisome trafficking. Here we screened multiple concentrations of four tubulin-binding drugs for their ability to rescue levels of acetylated α-tubulin in patient-derived ONS cells. Drug doses that restored acetylated α-tubulin to levels in control-derived ONS cells were then selected for their ability to rescue peroxisome trafficking deficits. Automated microscopic screening identified very low doses of the four drugs (0.5 nM taxol, 0.5 nM vinblastine, 2 nM epothilone D, 10 µM noscapine that rescued acetylated α-tubulin in patient-derived ONS cells. These same doses rescued peroxisome trafficking deficits, restoring peroxisome speeds to untreated control cell levels. These results demonstrate a novel approach for drug screening based on high throughput automated microscopy for acetylated α-tubulin followed by functional validation of microtubule-based peroxisome transport. From a clinical perspective, all the drugs tested are used clinically, but at much higher doses. Importantly, epothilone D and noscapine can enter the central nervous system, making them potential candidates for future clinical trials.

  7. Low dose tubulin-binding drugs rescue peroxisome trafficking deficit in patient-derived stem cells in Hereditary Spastic Paraplegia

    Science.gov (United States)

    Fan, Yongjun; Wali, Gautam; Sutharsan, Ratneswary; Bellette, Bernadette; Crane, Denis I.; Sue, Carolyn M.; Mackay-Sim, Alan

    2014-01-01

    ABSTRACT Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of disorders, diagnosed by progressive gait disturbances with muscle weakness and spasticity, for which there are no treatments targeted at the underlying pathophysiology. Mutations in spastin are a common cause of HSP. Spastin is a microtubule-severing protein whose mutation in mouse causes defective axonal transport. In human patient-derived olfactory neurosphere-derived (ONS) cells, spastin mutations lead to lower levels of acetylated α-tubulin, a marker of stabilised microtubules, and to slower speed of peroxisome trafficking. Here we screened multiple concentrations of four tubulin-binding drugs for their ability to rescue levels of acetylated α-tubulin in patient-derived ONS cells. Drug doses that restored acetylated α-tubulin to levels in control-derived ONS cells were then selected for their ability to rescue peroxisome trafficking deficits. Automated microscopic screening identified very low doses of the four drugs (0.5 nM taxol, 0.5 nM vinblastine, 2 nM epothilone D, 10 µM noscapine) that rescued acetylated α-tubulin in patient-derived ONS cells. These same doses rescued peroxisome trafficking deficits, restoring peroxisome speeds to untreated control cell levels. These results demonstrate a novel approach for drug screening based on high throughput automated microscopy for acetylated α-tubulin followed by functional validation of microtubule-based peroxisome transport. From a clinical perspective, all the drugs tested are used clinically, but at much higher doses. Importantly, epothilone D and noscapine can enter the central nervous system, making them potential candidates for future clinical trials. PMID:24857849

  8. Endogenous spar tin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons

    International Nuclear Information System (INIS)

    Robay, Dimitri; Patel, Heema; Simpson, Michael A.; Brown, Nigel A.; Crosby, Andrew H.

    2006-01-01

    Mutation of spartin (SPG20) underlies a complicated form of hereditary spastic paraplegia, a disorder principally defined by the degeneration of upper motor neurons. Using a polyclonal antibody against spartin to gain insight into the function of the endogenous molecule, we show that the endogenous molecule is present in two main isoforms of 85 kDa and 100 kDa, and 75 kDa and 85 kDa in human and murine, respectively, with restricted subcellular localization. Immunohistochemical studies on human and mouse embryo sections and in vitro cell studies indicate that spartin is likely to possess both nuclear and cytoplasmic functions. The nuclear expression of spartin closely mirrors that of the snRNP (small nuclear ribonucleoprotein) marker α-Sm, a component of the spliceosome. Spartin is also enriched at the centrosome within mitotic structures. Notably we show that spartin protein undergoes dynamic positional changes in differentiating human SH-SY5Y cells. In undifferentiated non-neuronal cells, spartin displays a nuclear and diffuse cytosolic profile, whereas spartin transiently accumulates in the trans-Golgi network and subsequently decorates discrete puncta along neurites in terminally differentiated neuroblastic cells. Investigation of these spartin-positive vesicles reveals that a large proportion colocalizes with the synaptic vesicle marker synaptotagmin. Spartin is also enriched in synaptic-like structures and in synaptic vesicle-enriched fraction

  9. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12

    Science.gov (United States)

    Landouré, Guida; Zhu, Peng-Peng; Lourenço, Charles M.; Johnson, Janel O.; Toro, Camilo; Bricceno, Katherine V.; Rinaldi, Carlo; Meilleur, Katherine G.; Sangaré, Modibo; Diallo, Oumarou; Pierson, Tyler M.; Ishiura, Hiroyuki; Tsuji, Shoji; Hein, Nichole; Fink, John K.; Stoll, Marion; Nicholson, Garth; Gonzalez, Michael; Speziani, Fiorella; Dürr, Alexandra; Stevanin, Giovanni; Biesecker, Leslie G.; Accardi, John; Landis, Dennis M. D.; Gahl, William A.; Traynor, Bryan J.; Marques, Wilson; Züchner, Stephan; Blackstone, Craig; Fischbeck, Kenneth H.; Burnett, Barrington G.

    2013-01-01

    We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. Exome sequencing revealed a homozygous missense variant (c.187G>C; p.Ala63Pro) in C19orf12, a gene recently implicated in neurodegeneration with brain iron accumulation (NBIA). The same mutation was subsequently also found in a Brazilian family with features of NBIA, and we identified another NBIA patient with a three-nucleotide deletion (c.197_199del; p.Gly66del). Haplotype analysis revealed that the p.Ala63Pro mutations have a common origin, but MRI scans showed no brain iron deposition in the Malian SPG43 subjects. Heterologous expression of these SPG43 and NBIA variants resulted in similar alterations in the subcellular distribution of C19orf12. The SPG43 and NBIA variants reported here as well as the most common C19orf12 missense mutation reported in NBIA patients are found within a highly-conserved, extended hydrophobic domain in C19orf12, underscoring the functional importance of this domain. PMID:23857908

  10. Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations.

    Science.gov (United States)

    Servelhere, K R; Faber, I; Saute, J A M; Moscovich, M; D'Abreu, A; Jardim, L B; Teive, H A G; Lopes-Cendes, I; Franca, M C

    2016-02-01

    Non-motor manifestations are frequently overlooked in degenerative disorders and little is known about their frequency and clinical relevance in SPG4 hereditary spastic paraplegia (SPG4-HSP). Thirty patients with SPG4-HSP and 30 healthy controls answered the Modified Fatigue Impact Scale, Epworth Sleepiness Scale, Brief Pain Inventory and Beck Depression Inventory. Student's t test was used to compare groups and linear regression was used to assess correlations. Patients had higher fatigue scores than controls (31.0 ± 16.5 vs. 14.5 ± 16.0, P = 0.002) as well as pain (3.4 ± 2.7 vs. 1.0 ± 1.6, P = 0.001) and depression (12.7 ± 8.9 vs. 4.4 ± 3.8, P depression and possibly with disease severity (P = 0.008 and 0.07, respectively). Fatigue, pain and depression are frequent and often severe manifestations in patients with SPG4-HSP. © 2016 EAN.

  11. Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI

    International Nuclear Information System (INIS)

    Dreha-Kulaczewski, Steffi; Dechent, Peter; Helms, Gunther; Frahm, Jens; Gaertner, Jutta; Brockmann, Knut

    2006-01-01

    Hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is a complicated form of autosomal-recessive hereditary spastic paraplegia. Characteristic clinical features comprise progressive spastic gait, cognitive impairment, and ataxia. Diagnostic MRI findings include thinning of the corpus callosum and non-progressive white matter (WM) alterations. To study the extent of axonal involvement, we performed localized proton magnetic resonance spectroscopy (MRS) of the cerebral WM and cortical grey matter (GM) in a patient with HSP-TCC at 20 and 25 years of age. The second investigation included diffusion tensor imaging (DTI). While MRS of the GM was normal, affected WM was characterized by major metabolic alterations such as reduced concentrations of N-acetylaspartate and N-acetylaspartyl-glutamate, creatine and phosphocreatine, and choline-containing compounds as well as elevated levels of myo-inositol. These abnormalities showed progression over a period of 5 years. DTI revealed increased mean diffusivity as well as reduced fractional anisotropy in periventricular WM. The metabolic and structural findings are consistent with progressive neuroaxonal loss in the WM accompanied by astrocytic proliferation - histopathological changes known to occur in HSP-TCC. Our results are in agreement with the hypothesis that the primary pathological process in HSP-TCC affects the axon, possibly due to impaired axonal trafficking. (orig.)

  12. A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss.

    Science.gov (United States)

    Guinto, Cheick O; Diarra, Salimata; Diallo, Salimata; Cissé, Lassana; Coulibaly, Thomas; Diallo, Seybou H; Taméga, Abdoulaye; Chen, Ke-Lian; Schindler, Alice B; Bagayoko, Koumba; Simaga, Assiatou; Blackstone, Craig; Fischbeck, Kenneth H; Landouré, Guida

    2017-04-01

    Hereditary spastic paraplegias (HSPs) are well-characterized disorders but rarely reported in Africa. We evaluated a Malian family in which three individuals had HSP and distal muscle atrophy and sensory loss. HSP panel testing identified a novel heterozygous missense mutation in KIF5A (c.1086G>C, p.Lys362Asn) that segregated with the disease (SPG10). Lys362 is highly conserved across species and Lys362Asn is predicted to be damaging. This study shows that HSPs are present in sub-Saharan Africa, although likely underdiagnosed. Increasing efficiency and decreasing costs of DNA sequencing will make it more feasible to diagnose HSPs in developing countries.

  13. Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.

    Science.gov (United States)

    Martin, Elodie; Schüle, Rebecca; Smets, Katrien; Rastetter, Agnès; Boukhris, Amir; Loureiro, José L; Gonzalez, Michael A; Mundwiller, Emeline; Deconinck, Tine; Wessner, Marc; Jornea, Ludmila; Oteyza, Andrés Caballero; Durr, Alexandra; Martin, Jean-Jacques; Schöls, Ludger; Mhiri, Chokri; Lamari, Foudil; Züchner, Stephan; De Jonghe, Peter; Kabashi, Edor; Brice, Alexis; Stevanin, Giovanni

    2013-02-07

    Spastic paraplegia 46 refers to a locus mapped to chromosome 9 that accounts for a complicated autosomal-recessive form of hereditary spastic paraplegia (HSP). With next-generation sequencing in three independent families, we identified four different mutations in GBA2 (three truncating variants and one missense variant), which were found to cosegregate with the disease and were absent in controls. GBA2 encodes a microsomal nonlysosomal glucosylceramidase that catalyzes the conversion of glucosylceramide to free glucose and ceramide and the hydrolysis of bile acid 3-O-glucosides. The missense variant was also found at the homozygous state in a simplex subject in whom no residual glucocerebrosidase activity of GBA2 could be evidenced in blood cells, opening the way to a possible measurement of this enzyme activity in clinical practice. The overall phenotype was a complex HSP with mental impairment, cataract, and hypogonadism in males associated with various degrees of corpus callosum and cerebellar atrophy on brain imaging. Antisense morpholino oligonucleotides targeting the zebrafish GBA2 orthologous gene led to abnormal motor behavior and axonal shortening/branching of motoneurons that were rescued by the human wild-type mRNA but not by applying the same mRNA containing the missense mutation. This study highlights the role of ceramide metabolism in HSP pathology. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  14. Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia

    Directory of Open Access Journals (Sweden)

    Leema Reddy Peddareddygari

    2015-01-01

    Full Text Available Complicated hereditary spastic paraplegia (HSP presents with complex neurological and nonneurological manifestations. We report a patient with autosomal recessive (AR HSP in whom laboratory investigations revealed hypobetalipoproteinemia raising the possibility of a shared pathophysiology of these clinical features. A lipid profile of his parents disclosed a normal maternal lipid profile. However, the paternal lipid profile was similar to that of the patient suggesting autosomal dominant transmission of this trait. Whole exome sequence analysis was performed and novel mutations were detected in both the SPG11 and the APOB genes. Genetic testing of the parents showed that both APOB variants were inherited from the father while the SPG11 variants were inherited one from each parent. Our results indicate that, in this patient, the hypobetalipoproteinemia and spastic paraplegia are unrelated resulting from mutations in two independent genes. This clinical study provides support for the use of whole exome sequencing as a diagnostic tool for identification of mutations in conditions with complex presentations.

  15. Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

    Science.gov (United States)

    Klebe, Stephan; Azzedine, Hamid; Durr, Alexandra; Bastien, Patrick; Bouslam, Naima; Elleuch, Nizar; Forlani, Sylvie; Charon, Celine; Koenig, Michel; Melki, Judith; Brice, Alexis; Stevanin, Giovanni

    2006-06-01

    The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive spasticity in the lower limbs. Twenty-nine different loci (SPG) have been mapped so far, and 11 responsible genes have been identified. Clinically, one distinguishes between pure and complex HSP forms which are variably associated with numerous combinations of neurological and extra-neurological signs. Less is known about autosomal recessive forms (ARHSP) since the mapped loci have been identified often in single families and account for only a small percentage of patients. We report a new ARHSP locus (SPG30) on chromosome 2q37.3 in a consanguineous family with seven unaffected and four affected members of Algerian origin living in Eastern France with a significant multipoint lod score of 3.8. Ten other families from France (n = 4), Tunisia (n = 2), Algeria (n = 3) and the Czech Republic (n = 1) were not linked to the newly identified locus thus demonstrating further genetic heterogeneity. The phenotype of the linked family consists of spastic paraparesis and peripheral neuropathy associated with slight cerebellar signs confirmed by cerebellar atrophy on one CT scan.

  16. Hereditary spastic paraplegia associated with thin corpus callosum Paraplegia espástica hereditária associada a hipoplasia de corpo caloso

    Directory of Open Access Journals (Sweden)

    Hélio A. Ghizoni Teive

    2001-09-01

    Full Text Available Autosomal recessive hereditary spastic paraplegia (AR-HSP associated with thin corpus callosum was recently described in Japan, and most families were linked to chromosome 15q13-15. We report two patients from two different Brazilian families with progressive gait disturbance starting at the second decade of life, spastic paraparesis, and mental deterioration. One patient presented cerebellar ataxia. Magnetic resonance imaging (MRI of the head of both patients showed a thin corpus callosum. AR-HSP with a thin corpus callosum is a rare disorder, mainly described in Japanese patients. We found only 4 Caucasian families with AR-HSP with thin corpus callosum described in the literature. Further studies including additional Caucasian families of AR-HSP with thin corpus callosum are required to delineate the genetic profile of this syndrome in occidental countries.A paraplegia espástica hereditária autossômica recessiva (PEH-AR associada com hipoplasia de corpo caloso foi inicialmente descrita no Japão. Estudos de ligação genética mostram que a maioria das famílias estão relacionadas ao cromossomo 15q13-15. Relatamos dois pacientes de famílias brasileiras, não relacionadas, com distúrbio de marcha com início na segunda década de vida, paraparesia espástica e comprometimento das funções cognitivas. Um dos pacientes apresentava ataxia cerebelar. A ressonância magnética de encéfalo de ambos os pacientes mostrou hipoplasia de corpo caloso. PEH-AR associada com hipoplasia de corpo caloso é uma condição rara, descrita principalmente em pacientes do Japão. Encontramos apenas 4 famílias caucasianas com PEH-AR e hipoplasia de corpo caloso. Mais estudos com famílias caucasianas são necessários para delinear o perfil genético dessa síndrome em países ocidentais.

  17. Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26.

    Science.gov (United States)

    Dad, Rubina; Malik, Uzma; Javed, Aneela; Minassian, Berge A; Hassan, Muhammad Jawad

    2017-08-30

    Beta-1,4-N-acetyl galactosaminyltransferase 1, B4GALNT1, is a GM2/GD2 synthase, involved in the expression of glycosphingolipids (GSLs) containing sialic acid. Mutations in the gene B4GALNT1 cause Hereditary Spastic Paraplegia 26 (HSP26). In present study we have made attempt to predict the potential structural of the human B4GALNT1 protein. The results illustrated that the amino acid sequences of B4GALNT1 are not 100% conserved among selected twenty species. One signal peptide and one transmembrane domain predicted in human wild type B4GALNT1 protein with aliphatic index of 92.76 and theoretical (iso-electric point) pI of 8.93. It was a kind of unstable protein with Grand average of hydropathicity (GRAVY) of -0.127. Various post-translational modifications were also predicted to exist in B4GALNT1 and predicted to interact with different proteins including ST8SIA5, SLC33A1, GLB1 and others. In the final round, reported missense mutations have shown the further decrease in stability of the protein. This in-silico analysis of B4GALNT1 protein will provide the basis for the further studies on structural variations and biological pathways involving B4GALNT1 in the HSP26. Copyright © 2017. Published by Elsevier B.V.

  18. Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia

    Directory of Open Access Journals (Sweden)

    Conceição Bettencourt

    2017-11-01

    Full Text Available Abstract Background Autosomal recessive hereditary spastic paraplegia (HSP due to AP4M1 mutations is a very rare neurodevelopmental disorder reported for only a few patients. Methods We investigated a Greek HSP family using whole exome sequencing (WES. Results A novel AP4M1A frameshift insertion, and a very rare missense variant were identified in all three affected siblings in the compound heterozygous state (p.V174fs and p.C319R; the unaffected parents were carriers of only one variant. Patients were affected with a combination of: (a febrile seizures with onset in the first year of life (followed by epileptic non-febrile seizures; (b distinctive facial appearance (e.g., coarse features, bulbous nose and hypomimia; (c developmental delay and intellectual disability; (d early-onset spastic weakness of the lower limbs; and (e cerebellar hypoplasia/atrophy on brain MRI. Conclusions We review genotype-phenotype correlations and discuss clinical overlaps between different AP4-related diseases. The AP4M1 belongs to a complex that mediates vesicle trafficking of glutamate receptors, being likely involved in brain development and neurotransmission.

  19. Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis.

    Science.gov (United States)

    Kaji, Seiji; Kawarai, Toshitaka; Miyamoto, Ryosuke; Nodera, Hiroyuki; Pedace, Lucia; Orlacchio, Antonio; Izumi, Yuishin; Takahashi, Ryosuke; Kaji, Ryuji

    2016-05-15

    Pathogenic mutations in the KIF5A-SPG10 gene, encoding the kinesin HC5A, can be associated with autosomal dominant hereditary spastic paraplegia (ADHSP). It accounts for about 10% of the complicated forms of ADHSP. Peripheral neuropathy, distal upper limb amyotrophy, and cognitive decline are the most common additional clinical features. We examined a 66-year-old Japanese woman manifesting gait disturbance and spastic dysarthria for 6years with positive family history. She showed evidence of upper and lower motor neuron involvement and fasciculations, thus mimicking amyotrophic lateral sclerosis (ALS). Genetic analysis revealed a heterozygous variant in KIF5A (c.484C>T, p.Arg162Trp) in 2 symptomatic members. The mutation was also identified in 4 asymptomatic members, including 2 elderly members aged over 78years. Electromyography in the 2 symptomatic members revealed evidence of lower motor neuron involvement and fasciculation potentials in distal muscles. This report describes the first known Asian family with a KIF5A mutation and broadens the clinical and electrophysiological spectrum associated with KIF5A-SPG10 mutations. Given that our cases showed pseudobulbar palsy, fasciculation and altered penetrance, KIF5A-SPG10 might well be considered as a differential diagnosis of sporadic ALS. Copyright © 2016 Elsevier B.V. All rights reserved.

  20. Palmo-Plantar hyperkeratosis, intellectual disability, and spastic paraplegia in two maternal half brothers: further evidence for an X-linked inheritance.

    Science.gov (United States)

    Isidor, Bertrand; Lefebvre, Tiphaine; Barbarot, Sébastien; Perrier, Julie; Mercier, Sandra; Péréon, Yann; Le Caignec, Cédric; David, Albert

    2013-06-01

    In 1983, Fitzsimmons et al. reported four brothers with an unrecognized disorder characterized by intellectual disability, spastic paraplegia, and palmo-plantar hyperkeratosis (OMIM 309500). In this report, we describe a family in which two males, maternal half-brothers, had learning disabilities. Both patients also showed spasticity in the lower limbs and palmo-plantar hyperkeratosis. The mother of the affected boys had learning difficulties but did not show any dermatological symptoms. This report confirms that the association of features reported by Fitzsimmons et al. is a distinct entity and further suggests an X-linked mode of inheritance. Copyright © 2013 Wiley Periodicals, Inc.

  1. A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder.

    Science.gov (United States)

    Matthews, A M; Tarailo-Graovac, M; Price, E M; Blydt-Hansen, I; Ghani, A; Drögemöller, B I; Robinson, W P; Ross, C J; Wasserman, W W; Siden, H; van Karnebeek, C D

    2017-10-01

    Here we report a 12 year old male with an extreme presentation of spastic paraplegia along with autism and dysmorphisms. Whole exome sequencing identified a predicted pathogenic pair of missense variants in SPAST at the same chromosomal location, each with a different alternative allele, while a chromosome microarray identified a 1.73 Mb paternally inherited copy gain of 1q21.1q21.2 resulting in a blended phenotype of both Spastic paraplegia 4 and 1q21.1 microduplication syndrome. We believe that the extreme phenotype observed is likely caused by the presence of cells which contain only mutant SPAST, but that the viability of the patient is possible due mosaicism of mutant alleles observed in different proportions across tissues. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  2. A novel ABCD1 mutation detected by next generation sequencing in presumed hereditary spastic paraplegia: A 30-year diagnostic delay caused by misleading biochemical findings.

    Science.gov (United States)

    Koutsis, Georgios; Lynch, David S; Tucci, Arianna; Houlden, Henry; Karadima, Georgia; Panas, Marios

    2015-08-15

    To present a Greek family in which 5 male and 2 female members developed progressive spastic paraplegia. Plasma very long chain fatty acids (VLCFA) were reportedly normal at first testing in an affected male and for over 30 years the presumed diagnosis was hereditary spastic paraplegia (HSP). Targeted next generation sequencing (NGS) was used as a further diagnostic tool. Targeted exome sequencing in the proband, followed by Sanger sequencing confirmation; mutation segregation testing in multiple family members and plasma VLCFA measurement in the proband. NGS of the proband revealed a novel frameshift mutation in ABCD1 (c.1174_1178del, p.Leu392Serfs*7), bringing an end to diagnostic uncertainty by establishing the diagnosis of adrenomyeloneuropathy (AMN), the myelopathic phenotype of X-linked adrenoleukodystrophy (ALD). The mutation segregated in all family members and the diagnosis of AMN/ALD was confirmed by plasma VLCFA measurement. Confounding factors that delayed the diagnosis are presented. This report highlights the diagnostic utility of NGS in patients with undiagnosed spastic paraplegia, establishing a molecular diagnosis of AMN, allowing proper genetic counseling and management, and overcoming the diagnostic delay that can be rarely caused by false negative VLCFA analysis. Copyright © 2015 Elsevier B.V. All rights reserved.

  3. Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

    Science.gov (United States)

    Hardies, Katia; May, Patrick; Djémié, Tania; Tarta-Arsene, Oana; Deconinck, Tine; Craiu, Dana; Helbig, Ingo; Suls, Arvid; Balling, Rudy; Weckhuysen, Sarah; De Jonghe, Peter; Hirst, Jennifer; Afawi, Zaid; Barisic, Nina; Baulac, Stéphanie; Caglayan, Hande; Depienne, Christel; De Kovel, Carolien G.F.; Dimova, Petia; Guerrero-López, Rosa; Guerrini, Renzo; Hjalgrim, Helle; Hoffman-Zacharska, Dorota; Jahn, Johanna; Klein, Karl Martin; Koeleman, Bobby P.C.; Leguern, Eric; Lehesjoki, Anna-Elina; Lemke, Johannes; Lerche, Holger; Marini, Carla; Muhle, Hiltrud; Rosenow, Felix; Serratosa, Jose M.; Møller, Rikke S.; Stephani, Ulrich; Striano, Pasquale; Talvik, Tiina; Von Spiczak, Sarah; Weber, Yvonne; Zara, Federico

    2015-01-01

    We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the σ subunit of the adaptor protein complex 4 (AP-4). The effect of the predicted loss-of-function variants (p.Gln46Profs*9 and p.Arg97*) was further investigated in a patient's fibroblast cell line. We show that the premature stop mutations in AP4S1 result in a reduction of all AP-4 subunits and loss of AP-4 complex assembly. Recruitment of the AP-4 accessory protein tepsin, to the membrane was also abolished. In retrospect, the clinical phenotype in the family is consistent with previous reports of the AP-4 deficiency syndrome. Our study reports the second family with mutations in AP4S1 and describes the first two patients with loss of AP4S1 and seizures. We further discuss seizure phenotypes in reported patients, highlighting that seizures are part of the clinical manifestation of the AP-4 deficiency syndrome. We also hypothesize that endosomal trafficking is a common theme between heritable spastic paraplegia and some inherited epilepsies. PMID:25552650

  4. Autosomal dominant hereditary spastic paraplegia with axonal sensory motor polyneuropathy maps to chromosome 21q 22.3.

    Science.gov (United States)

    Peddareddygari, Leema Reddy; Hanna, Philip A; Igo, Robert P; Luo, Yuqun A; Won, Sungho; Hirano, Michio; Grewal, Raji P

    2016-01-01

    Hereditary spastic paraplegia (HSP) are a genetically and clinically heterogeneous group of disorders. At present, 19 autosomal dominant loci for HSP have been mapped. We ascertained an American family of European descent segregating an autosomal dominant HSP associated with peripheral neuropathy. A genome wide scan was performed with 410 microsatellite repeat marker (Weber lab screening set 16) and following linkage and haplotype analysis, fine mapping was performed. Established genes or loci for HSP were excluded by direct sequencing or haplotype analysis. All established loci for HSP were excluded. Fine mapping suggested a locus on chromosome 21q22.3 flanked by markers D21S1411 and D21S1446 with a maximum logarithm of odds score of 2.05 and was supported by haplotype analysis. A number of candidate genes in this region were analyzed and no disease-producing mutations were detected. We present the clinical and genetic analysis of an American family with autosomal dominant HSP with axonal sensory motor polyneuropathy mapping to a novel locus on chromosome 21q22.3 designated SPG56.

  5. Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation

    OpenAIRE

    Chang, Jaerak; Lee, Seongju; Blackstone, Craig

    2014-01-01

    Autophagy allows cells to adapt to changes in their environment by coordinating the degradation and recycling of cellular components and organelles to maintain homeostasis. Lysosomes are organelles critical for terminating autophagy via their fusion with mature autophagosomes to generate autolysosomes that degrade autophagic materials; therefore, maintenance of the lysosomal population is essential for autophagy-dependent cellular clearance. Here, we have demonstrated that the two most common...

  6. Dementia in SPG4 hereditary spastic paraplegia: clinical, genetic, and neuropathologic evidence.

    LENUS (Irish Health Repository)

    Murphy, S

    2012-02-01

    BACKGROUND: Cognitive impairment and dementia has been reported in autosomal dominant hereditary spastic paraparesis (HSP) linked to the SPG4 locus. There has only been one postmortem examination described; not all accept that progressive cognitive decline is a feature of this disorder. OBJECTIVE: A family with SPG4-HSP known to have a deletion of exon 17 in the spastin gene (SPG4delEx17) was cognitively assessed over a 7-year period. The index family member died and a postmortem examination was performed. METHODS: Thirteen family members older than 40 years were clinically and cognitively assessed using the Cambridge Cognitive Assessment over a 7-year period. The presence of SPG4delEx17 was assessed; a neuropathologic examination of the brain of the index family member was performed. RESULTS: Cognitive decline occurred in 6 of the 13 family members and in all 4 older than 60 years. Two genetic deletions were identified: SPG4delEx17 in 12 of the 13 family members and a deletion of SPG6 (SPG6del) in 5. Eight individuals had the SPG4delEx17 deletion only; 4 had evidence of progressive cognitive impairment. Four family members had both SPG4delEx17 and SPG6del; 2 of these had cognitive impairment. One family member with the SPG6del alone had neither HSP nor cognitive impairment. The index case with both deletions died with dementia; the brain showed widespread ubiquitin positivity within the neocortex and white matter. CONCLUSION: Cognitive decline and dementia is a feature of SPG4-HSP due to a deletion of exon 17 of the spastin gene.

  7. Loss of spastin function results in disease-specific axonal defects in human pluripotent stem cell-based models of hereditary spastic paraplegia

    Science.gov (United States)

    Denton, Kyle R.; Lei, Ling; Grenier, Jeremy; Rodionov, Vladimir; Blackstone, Craig; Li, Xue-Jun

    2013-01-01

    Human neuronal models of hereditary spastic paraplegias (HSP) that recapitulate disease-specific axonal pathology hold the key to understanding why certain axons degenerate in patients and to developing therapies. SPG4, the most common form of HSP, is caused by autosomal dominant mutations in the SPAST gene, which encodes the microtubule-severing ATPase spastin. Here, we have generated a human neuronal model of SPG4 by establishing induced pluripotent stem cells (iPSCs) from an SPG4 patient and differentiating these cells into telencephalic glutamatergic neurons. The SPG4 neurons displayed a significant increase in axonal swellings, which stained strongly for mitochondria and tau, indicating the accumulation of axonal transport cargoes. In addition, mitochondrial transport was decreased in SPG4 neurons, revealing that these patient iPSC-derived neurons recapitulate disease-specific axonal phenotypes. Interestingly, spastin protein levels were significantly decreased in SPG4 neurons, supporting a haploinsufficiency mechanism. Furthermore, cortical neurons derived from spastin-knockdown human embryonic stem cells (hESCs) exhibited similar axonal swellings, confirming that the axonal defects can be caused by loss of spastin function. These spastin-knockdown hESCs serve as an additional model for studying HSP. Finally, levels of stabilized acetylated-tubulin were significantly increased in SPG4 neurons. Vinblastine, a microtubule-destabilizing drug, rescued this axonal swelling phenotype in neurons derived from both SPG4 iPSCs and spastin-knockdown hESCs. Thus, this study demonstrates the successful establishment of human pluripotent stem cell-based neuronal models of SPG4, which will be valuable for dissecting the pathogenic cellular mechanisms and screening compounds to rescue the axonal degeneration in HSP. PMID:24123785

  8. Machado-Joseph disease versus hereditary spastic paraplegia: case report Doença de Machado-Joseph versus paraplegia espástica hereditária: relato de caso

    Directory of Open Access Journals (Sweden)

    Hélio A. Ghizoni Teive

    2001-09-01

    Full Text Available Machado-Joseph disease (MJD is the most common autosomal dominant spinocerebellar ataxia and presents great phenotypic variability. MJD presenting with spastic paraparesis was recently described in Japanese patients. We report the case of 41-year-old woman with the phenotype of complicated hereditary spastic paraplegia. Her father died at the age of 56 years due to an undiagnosed progressive neurological disease that presented parkinsonism. She had an expanded allele with 66 CAG repeats and a normal allele with 22 repeats in the gene of MJD. MJD should be considered in the differential diagnosis of autosomal dominant complicated HSP. A patient with the phenotype of complicated HSP and relatives with other clinical features of a neurodegenerative disease should raise the suspicion of MJD.A doença de Machado-Joseph (DMJ é a ataxia espinocerebelar autossômica dominante mais prevalente e apresenta grande variabilidade fenotípica. DMJ apresentando-se com o fenótipo de paraparesia espástica foi recentemente descrita em pacientes japoneses. Relatamos o caso de uma paciente com fenótipo de paraplegia espástica hereditária (PEH "complicada". Seu pai faleceu com 56 anos de uma doença neurológica progressiva que cursava com parkinsonismo. Estudo genético pela técnica de reação em cadeia da polimerase mostrou um alelo de tamanho normal com 22 repetições e um alelo de tamanho expandido com 66 repetições para o tripleto CAG no gene da DMJ. A DMJ deve ser considerada no diagnóstico diferencial das PEH complicadas autossômicas dominantes. Em um paciente com quadro de PEH e outros familiares com fenótipos diferentes de doenças degenerativas deve-se suspeitar de DMJ.

  9. Spasticity

    Science.gov (United States)

    ... Easter Seals March of Dimes National Multiple Sclerosis Society United Cerebral Palsy (UCP) See all related organizations Publications Order NINDS Publications Definition Spasticity is a condition in which there is ...

  10. Physical Therapy in the Management of Pelvic Floor Muscles Hypertonia in a Woman with Hereditary Spastic Paraplegia

    Directory of Open Access Journals (Sweden)

    Aline Moreira Ribeiro

    2014-01-01

    Full Text Available Background. Pelvic floor (PF hypertonic disorders are a group of conditions that present with muscular hypertonia or spasticity, resulting in a diminished capacity to isolate, contract, and relax the PF. Their presentation includes voiding and sexual dysfunctions, pelvic pain, and constipation. Various factors are associated, such as complicated vaginal birth, muscular injury, scar tissue formation, and neuropathies. Study Design. The case of a single patient will be presented, together with the management strategies employed. Case Description. A woman with hereditary spastic paraparesis and a history of muscle spasticity and urinary and fecal complaints since childhood. She presented to this institution seeking treatment for pelvic pain, pain during intercourse, constipation, and micturition problems. A physical therapy protocol was developed, with the trial of several treatment modalities. Outcome. After some failed attempts, perineal and pelvic floor stretching proved to be very efficacious therapies for this patient’s complaint, leading to improved pain during intercourse, constipation, pelvic pain, and urinary stream. Discussion. PF spasticity can lead to severe disability and interfere with daily basic functions, such as micturition and evacuation. Physical therapy plays an essential role in the management of these patients and can lead to significant improvement in quality of life.

  11. Genetics Home Reference: spastic paraplegia type 8

    Science.gov (United States)

    ... exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, muscle wasting (amyotrophy), and reduced bladder control. The ... and Therapies General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  12. Genetics Home Reference: spastic paraplegia type 31

    Science.gov (United States)

    ... exaggerated reflexes (hyperreflexia), a decreased ability to feel vibrations, reduced bladder control, and high-arched feet ( pes ... and Therapies General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery ...

  13. Genetics Home Reference: spastic paraplegia type 15

    Science.gov (United States)

    ... becomes apparent in childhood or adolescence with the development of weak muscle tone (hypotonia), difficulty walking, or intellectual disability. In almost all affected individuals, the tissue connecting the left and right halves of the brain ( corpus callosum ) is abnormally thin and becomes thinner ...

  14. Hereditary spastic paraplegia caused by the PLP1 'rumpshaker mutation'

    DEFF Research Database (Denmark)

    Svenstrup, Kirsten; Giraud, Geneviève; Boespflug-Tanguy, Odile

    2010-01-01

    with the 'rumpshaker mutation.' PATIENTS: A family with HSP caused by the 'rumpshaker mutation.' RESULTS: The patients showed nystagmus during infancy and had early onset of HSP. They had normal cognition, and cerebral MRI showed relatively unspecific white matter abnormalities on T2 sequences without clear...

  15. Genetics Home Reference: spastic paraplegia type 3A

    Science.gov (United States)

    ... bladder control, an abnormal curvature of the spine ( scoliosis ), loss of sensation in the feet (peripheral neuropathy), ... Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic ... Manual Home Edition National Health Service (UK) Orphanet: Hereditary ...

  16. Genetics Home Reference: spastic paraplegia type 5A

    Science.gov (United States)

    ... Feki I, Mochel F, Wolf C, Mhiri C, Crosby A, Brice A, Stevanin G. CYP7B1 mutations in ... Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH. Sequence alterations within CYP7B1 implicate defective cholesterol ...

  17. Extradural lipomatosis presenting with paraplegia.

    Directory of Open Access Journals (Sweden)

    Deogaonkar M

    1995-07-01

    Full Text Available An unusual case with spinal extradural lipomatosis in a non-obese and otherwise healthy man is reported. The patient presented with a history of weakness of legs which progressed to paraplegia over a 40 day period.

  18. Basedow paraplegia: A possible misnomer

    African Journals Online (AJOL)

    Thyrotoxic myopathy frequently occurs in clinical practice; however, the ... The occurrence of hyperthyroidism with a flaccid, areflexic paraplegia appears ... It is important to consider and treat other causes, such as acute idiopathic polyneuritis.

  19. Paraplegia due to adrenomyeloneuropathy.

    Science.gov (United States)

    Lamid, S; El Ghatit, A Z

    1984-04-01

    Only nine cases of adrenomyeloneuropathy have been reported in the literature. It manifested as adrenal insufficiency, spastic paraparesis, loss of bowel, bladder and sexual functions, and peripheral neuropathy. Our paper describes a patient with the diagnosis of adrenomyeloneuropathy who was admitted to our hospital for rehabilitation. Family and neurological history, physical examination and special laboratory studies such as ACTH stimulation test, electrodiagnostic findings, cystometrogram and sexual function evaluation were essential to establish the diagnosis of this disease. His rehabilitation consisted of bowel and bladder training, ambulation with long-leg braces and crutches, wheelchair mobilization and transfers, and independence of all activities of daily living.

  20. HTLV-1 antibodies in serum and cerebrospinal fluid in tropical spastic paraparesis in Brazil

    Directory of Open Access Journals (Sweden)

    A. Spina-França

    1990-12-01

    Full Text Available HTLV-l antibodies were investigated in serum and in CSF of 150 patients with neurologic disorders mainly myelopathies. The patients were considered into three groups according to the possible relationship of their disease to the presence of HTLV-l antibodies: no relationship risk (control group, occasional risk group, and possible risk group. In this latter are 56 patients with crural spastic paraparesis or paraplegia of unknown etiology (SP. HTLV-l antibodies were tested by the passive particle-agglutination method for anti-ATLA antibody detection. The search was negative in all patients of the control group, and positive (serum and/or CSF in 16.5% of the patients from the second group and in 55.4% of the SP patients group. Clinical patterns in SP cases with HTLV-l antibodies were those of tropical spastic paraparesis (TSP. CSF patterns considered (cytology, protein content and gamma-globulins rate were different between TSP group with HTLV-l antibodies in CSF and SP group with no HTLV-l antibodies detection either in serum or in CSF. The difference was significant. Results of this investigation confirm the high incidence of TSP in Brazil, and bring additional indication for searching HTLV-l antibodies in the CSF.

  1. Association of Early-Onset Spasticity and Risk for Cognitive Impairment With Mutations at Amino Acid 499 in SPAST.

    Science.gov (United States)

    Gillespie, Meredith K; Humphreys, Peter; McMillan, Hugh J; Boycott, Kym M

    2018-04-01

    Hereditary spastic paraplegia is a phenotypically and genetically heterogeneous group of neurodegenerative disorders characterized by lower extremity weakness and spasticity. Spastic paraplegia 4 (SPG4), caused by heterozygous mutations in the gene SPAST, typically causes a late-onset, uncomplicated form of hereditary spastic paraplegia in affected individuals. Additional clinical features in SPG4 have been reported on occasion, but no genotype-phenotype correlation has been established. Through targeted clinical testing, we identified 2 unrelated female patients with the same de novo p.Arg499His mutation in SPAST. Both patients presented with early-onset spasticity resulting in delayed motor milestones, which led to a diagnosis of cerebral palsy in one child and tethered cord in the other. Review of the literature identified several patients with mutations at amino acid 499 and early-onset symptoms associated with a risk of cognitive impairment. Early and accurate diagnosis of children with early-onset spasticity is important for informed prognosis and genetic counselling.

  2. Signaling proteins in spinal parenchyma and dorsal root ganglion in rat with spinal injury-induced spasticity

    Czech Academy of Sciences Publication Activity Database

    Kupcová Skalníková, Helena; Navarro, R.; Marsala, S.; Hrabáková, Rita; Vodička, Petr; Gadher, S. J.; Kovářová, Hana; Marsala, M.

    2013-01-01

    Roč. 91, č. 1 (2013), s. 41-57 ISSN 1874-3919 R&D Projects: GA MŠk(CZ) ME10044; GA TA ČR TA01011466; GA MŠk ED2.1.00/03.0124 Institutional support: RVO:67985904 Keywords : spinal cord trauma * spasticity * hyper-reflexia Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.929, year: 2013

  3. Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

    Science.gov (United States)

    Martinelli, Paola; Cherukuri, Praveen F.; Teer, Jamie K.; Hansen, Nancy F.; Cruz, Pedro; Mullikin for the NISC Comparative Sequencing Program, James C.; Blakesley, Robert W.; Golas, Gretchen; Kwan, Justin; Sandler, Anthony; Fuentes Fajardo, Karin; Markello, Thomas; Tifft, Cynthia; Blackstone, Craig; Rugarli, Elena I.; Langer, Thomas; Gahl, William A.; Toro, Camilo

    2011-01-01

    We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. Whole-exome sequencing identified a homozygous missense mutation (c.1847G>A; p.Y616C) in AFG3L2, encoding a subunit of an m-AAA protease. m-AAA proteases reside in the mitochondrial inner membrane and are responsible for removal of damaged or misfolded proteins and proteolytic activation of essential mitochondrial proteins. AFG3L2 forms either a homo-oligomeric isoenzyme or a hetero-oligomeric complex with paraplegin, a homologous protein mutated in hereditary spastic paraplegia type 7 (SPG7). Heterozygous loss-of-function mutations in AFG3L2 cause autosomal-dominant spinocerebellar ataxia type 28 (SCA28), a disorder whose phenotype is strikingly different from that of our patients. As defined in yeast complementation assays, the AFG3L2Y616C gene product is a hypomorphic variant that exhibited oligomerization defects in yeast as well as in patient fibroblasts. Specifically, the formation of AFG3L2Y616C complexes was impaired, both with itself and to a greater extent with paraplegin. This produced an early-onset clinical syndrome that combines the severe phenotypes of SPG7 and SCA28, in additional to other “mitochondrial” features such as oculomotor apraxia, extrapyramidal dysfunction, and myoclonic epilepsy. These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias. PMID:22022284

  4. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.

    Directory of Open Access Journals (Sweden)

    Tyler Mark Pierson

    2011-10-01

    Full Text Available We report an early onset spastic ataxia-neuropathy syndrome in two brothers of a consanguineous family characterized clinically by lower extremity spasticity, peripheral neuropathy, ptosis, oculomotor apraxia, dystonia, cerebellar atrophy, and progressive myoclonic epilepsy. Whole-exome sequencing identified a homozygous missense mutation (c.1847G>A; p.Y616C in AFG3L2, encoding a subunit of an m-AAA protease. m-AAA proteases reside in the mitochondrial inner membrane and are responsible for removal of damaged or misfolded proteins and proteolytic activation of essential mitochondrial proteins. AFG3L2 forms either a homo-oligomeric isoenzyme or a hetero-oligomeric complex with paraplegin, a homologous protein mutated in hereditary spastic paraplegia type 7 (SPG7. Heterozygous loss-of-function mutations in AFG3L2 cause autosomal-dominant spinocerebellar ataxia type 28 (SCA28, a disorder whose phenotype is strikingly different from that of our patients. As defined in yeast complementation assays, the AFG3L2(Y616C gene product is a hypomorphic variant that exhibited oligomerization defects in yeast as well as in patient fibroblasts. Specifically, the formation of AFG3L2(Y616C complexes was impaired, both with itself and to a greater extent with paraplegin. This produced an early-onset clinical syndrome that combines the severe phenotypes of SPG7 and SCA28, in additional to other "mitochondrial" features such as oculomotor apraxia, extrapyramidal dysfunction, and myoclonic epilepsy. These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias.

  5. The Troyer syndrome (SPG20) protein spartin interacts with Eps15

    International Nuclear Information System (INIS)

    Bakowska, Joanna C.; Jenkins, Russell; Pendleton, James; Blackstone, Craig

    2005-01-01

    The hereditary spastic paraplegias comprise a group of inherited neurological disorders in which the primary manifestation is spastic weakness of the lower extremities. Troyer syndrome is an autosomal recessive form of spastic paraplegia caused by a frameshift mutation in the spartin (SPG20) gene. Currently, neither the localization nor the functions of the spartin protein are known. In this study, we generated anti-spartin antibodies and found that spartin is both cytosolic and membrane-associated. Using a yeast two-hybrid approach, we screened an adult human brain library for binding partners of spartin. We identified Eps15, a protein known to be involved in endocytosis and the control of cell proliferation. This interaction was confirmed by fusion protein 'pull-down' experiments as well as a cellular redistribution assay. Our results suggest that spartin might be involved in endocytosis, vesicle trafficking, or mitogenic activity, and that impairment in one of these processes may underlie the long axonopathy in patients with Troyer syndrome

  6. Recent advances on acute paraplegia

    Directory of Open Access Journals (Sweden)

    Gentian Vyshka

    2016-11-01

    Full Text Available Paraplegia and spinal cord injuries are issues of major concern to the actual medicine. But recent advances have raised hopes for a better prognosis, which has always been poor or infaust since medicine was practiced. However and interestingly enough, some concepts and definitions on the occurrence have survived for millennia. Once encountered as an issue, traumatic or non-traumatic paraplegia needs a multidisciplinary approach and a careful staging of the problem. Different scales are available with Frankel's and American Spinal Injury Association most widely used as alternatives or complementary tools. The authors discuss therapeutic options with a special focus on the stem cell therapy which has seen an impressive increase on the number of trials for a successful treatment. Sourcing and yielding of stem cells are made possible through a number of techniques, with material aspirated from bone marrow or adipose tissue, which are used along with other sources of neuronal precursors such as olfactory ensheathing cells. Nevertheless, large and multicenter studies are still lacking. However, with the quality of the ongoing work and research, the optimistic attitude seems warranted. Meanwhile, other rehabilitation and medical care interventions, always at hand, need to be applied in every individual suffering from paraplegia and spinal cord injury.

  7. Spasticity complicating metrizamide myelography

    Energy Technology Data Exchange (ETDEWEB)

    Earl, H M; Earl, C J; Kendall, B E

    1985-09-01

    Temporary but considerable increase in spasticity following myelography using metrizamide at 300 mgsI/ml concentration occurred in 4 patients. In 3 of the patients the diagnosis is uncertain, but it is likely to be some form of degenerative disease involving motor pathways in two of them; the fourth case has cervical spondylotic myelopathy. The spasticity might be related to the anticholinesterase activity of metrizamide or to competative inhibition by the deoxyglucose component of the metrizamide molecule of endogenous glucose metabolism.

  8. Using Telemedicine to Improve Spasticity Diagnosis Rates

    Science.gov (United States)

    2018-02-20

    Spasticity, Muscle; Muscular Diseases; Musculoskeletal Disease; Muscle Hypertonia; Muscle Spasticity; Neuromuscular Manifestations; Signs and Symptoms; Nervous System Diseases; Neurologic Manifestations

  9. Cytoplasmic Localization of HTLV-1 HBZ Protein: A Biomarker of HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP).

    Science.gov (United States)

    Baratella, Marco; Forlani, Greta; Raval, Goutham U; Tedeschi, Alessandra; Gout, Olivier; Gessain, Antoine; Tosi, Giovanna; Accolla, Roberto S

    2017-01-01

    HTLV-1 is the causative agent of a severe form of adult T cell leukemia/Lymphoma (ATL), and of a chronic progressive neuromyelopathy designated HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP). Two important HTLV-1-encoded proteins, Tax-1 and HBZ, play crucial roles in the generation and maintenance of the oncogenic process. Less information is instead available on the molecular and cellular mechanisms leading to HAM/TSP. More importantly, no single specific biomarker has been described that unambiguously define the status of HAM/TSP. Here we report for the first time the finding that HBZ, described until now as an exclusive nuclear protein both in chronically infected and in ATL cells, is instead exclusively localized in the cytoplasm of peripheral blood mononuclear cells (PBMC) from patients suffering of HAM/TSP. Interestingly, at the single cell level, HBZ and Tax-1 proteins are never found co-expressed in the same cell, suggesting the existence of mechanisms of expression uncoupling of these two important HTLV-1 viral products in HAM/TSP patients. Cells expressing cytoplasmic HBZ were almost exclusively found in the CD4+ T cell compartment that was not, at least in a representative HAM/TSP patient, expressing the CD25 marker. Less than 1 percent CD8+ T cells were fond positive for HBZ, while B cells and NK cells were found negative for HBZ in HAM/TSP patients. Our results identify the cytoplasmic localization of HBZ in HAM/TSP patient as a possible biomarker of this rather neglected tropical disease, and raise important hypotheses on the role of HBZ in the pathogenesis of the neuromyelopathy associated to HTLV-1 infection.

  10. Cytoplasmic Localization of HTLV-1 HBZ Protein: A Biomarker of HTLV-1-Associated Myelopathy/Tropical Spastic Paraparesis (HAM/TSP.

    Directory of Open Access Journals (Sweden)

    Marco Baratella

    2017-01-01

    Full Text Available HTLV-1 is the causative agent of a severe form of adult T cell leukemia/Lymphoma (ATL, and of a chronic progressive neuromyelopathy designated HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP. Two important HTLV-1-encoded proteins, Tax-1 and HBZ, play crucial roles in the generation and maintenance of the oncogenic process. Less information is instead available on the molecular and cellular mechanisms leading to HAM/TSP. More importantly, no single specific biomarker has been described that unambiguously define the status of HAM/TSP. Here we report for the first time the finding that HBZ, described until now as an exclusive nuclear protein both in chronically infected and in ATL cells, is instead exclusively localized in the cytoplasm of peripheral blood mononuclear cells (PBMC from patients suffering of HAM/TSP. Interestingly, at the single cell level, HBZ and Tax-1 proteins are never found co-expressed in the same cell, suggesting the existence of mechanisms of expression uncoupling of these two important HTLV-1 viral products in HAM/TSP patients. Cells expressing cytoplasmic HBZ were almost exclusively found in the CD4+ T cell compartment that was not, at least in a representative HAM/TSP patient, expressing the CD25 marker. Less than 1 percent CD8+ T cells were fond positive for HBZ, while B cells and NK cells were found negative for HBZ in HAM/TSP patients. Our results identify the cytoplasmic localization of HBZ in HAM/TSP patient as a possible biomarker of this rather neglected tropical disease, and raise important hypotheses on the role of HBZ in the pathogenesis of the neuromyelopathy associated to HTLV-1 infection.

  11. Hand muscles corticomotor excitability in hereditary spastic paraparesis type 4.

    Science.gov (United States)

    Ginanneschi, Federica; Carluccio, Maria A; Mignarri, Andrea; Tessa, Alessandra; Santorelli, Filippo M; Rossi, Alessandro; Federico, Antonio; Dotti, Maria T

    2014-08-01

    Transcranial magnetic stimulation (TMS) studies on the pathways to the upper limbs have revealed inconsistent results in patients harboring mutations in SPAST/SPG4 gene, responsible for the commonest form of hereditary spastic paraplegia (HSP). This paper is addressed to study the corticomotor excitability of the pathways to the upper limbs in SPG4 subjects. We assessed the corticomotor excitability of hand muscles in 12 subjects belonging to 7 unrelated SPG4 families and in 12 control subjects by stimulus-response curve [input-output (I-O) curve]. All the parameters of the recruitment curve (threshold, V50, slope and plateau) did not differ significantly from those of the controls. Presence of upper limb hyper-reflexia did not influence the results of I-O curve. Considering the multiplicity of possible genes/loci accounting for pure HSPs, performing TMS analyses could be helpful in differential diagnosis of pure HSPs in the absence of other clinical or neuroimaging tools.

  12. Paraplegia following intraaortic balloon circulatory assistance

    Directory of Open Access Journals (Sweden)

    Benício Anderson

    1999-01-01

    Full Text Available Intraaortic balloon counterpulsation is frequently used in patients experiencing severe ventricular dysfunction following maximal drug therapy. However, even with the improvement of percutaneous insertion techniques, the procedure has always been followed by vascular, infectious, and neurological complications. This article describes a case of paraplegia due to intraaortic balloon counterpulsation in the postoperative period of cardiac surgery.

  13. [A case of medulla oblongata compression by tortuous vertebral arteries presenting with spastic quadriplegia].

    Science.gov (United States)

    Kamada, Takashi; Tateishi, Takahisa; Yamashita, Tamayo; Nagata, Shinji; Ohyagi, Yasumasa; Kira, Jun-Ichi

    2013-01-01

    We report a 58-year-old man showing spastic paraparesis due to medulla oblongata compression by tortuous vertebral arteries. He noticed weakness of both legs and gait disturbance at the age of 58 years and his symptoms progressively worsened during the following several months. General physical findings were normal. Blood pressure was normal and there were no signs of arteriosclerosis. Neurological examination on admission revealed lower-limb-dominant spasticity in all four extremities, lower-limb weakness, hyperreflexia in all extremities with positive Wartenberg's, Babinski's and Chaddock's signs, mild hypesthesia and hypopallesthesia in both lower limbs, and spastic gait. Cranial nerves were all normal. Serum was negative for antibodies against human T-cell lymphotropic virus-1 antibody. Nerve conduction and needle electromyographic studies of all four limbs revealed normal findings. Cervical, thoracic and lumbo-sacral magnetic resonance imaging (MRI) findings were all normal. Brain MRI and magnetic resonance angiography demonstrated bilateral tortuous vertebral arteries compressing the medulla oblongata. Neurovascular decompression of the right vertebral artery was performed because compression of the right side was more severe than that of the left side. Post-operative MRI revealed outward translocation of the right vertebral artery and relieved compression of the medulla oblongata on the right side. The patient's symptoms and neurological findings improved gradually after the operation. Bilateral pyramidal tract signs without cranial nerve dysfunction due to compression of the medulla oblongata by tortuous vertebral arteries are extremely rare and clinically indistinguishable from hereditary spastic paraplegia (HSP). Although we did not perform a genetic test for HSP, we consider that the spastic paraparesis and mild lower-limb hypesthesia were caused by compression of the medulla oblongata by bilateral tortuous vertebral arteries based on the post

  14. Walking dreams in congenital and acquired paraplegia.

    Science.gov (United States)

    Saurat, Marie-Thérèse; Agbakou, Maité; Attigui, Patricia; Golmard, Jean-Louis; Arnulf, Isabelle

    2011-12-01

    To test if dreams contain remote or never-experienced motor skills, we collected during 6 weeks dream reports from 15 paraplegics and 15 healthy subjects. In 9/10 subjects with spinal cord injury and in 5/5 with congenital paraplegia, voluntary leg movements were reported during dream, including feelings of walking (46%), running (8.6%), dancing (8%), standing up (6.3%), bicycling (6.3%), and practicing sports (skiing, playing basketball, swimming). Paraplegia patients experienced walking dreams (38.2%) just as often as controls (28.7%). There was no correlation between the frequency of walking dreams and the duration of paraplegia. In contrast, patients were rarely paraplegic in dreams. Subjects who had never walked or stopped walking 4-64 years prior to this study still experience walking in their dreams, suggesting that a cerebral walking program, either genetic or more probably developed via mirror neurons (activated when observing others performing an action) is reactivated during sleep. Copyright © 2011 Elsevier Inc. All rights reserved.

  15. Reduced regional cerebral blood flow in SPG4-linked hereditary spastic paraplegia

    DEFF Research Database (Denmark)

    Scheuer, Kristin H; Nielsen, Jørgen E; Krabbe, Katja

    2005-01-01

    flow (rCBF) as an indirect marker of regional neuronal activity. Eighteen SPG4 patients and 18 matched control subjects were studied. Resting state rCBF was measured using Positron Emission Tomography (PET) and the (15)O-labelled water bolus technique and relative group differences were explored using...

  16. Paraplegia after intercostal neurolysis with phenol

    Directory of Open Access Journals (Sweden)

    Gollapalli L

    2014-11-01

    Full Text Available Lakshman Gollapalli, Rudramanaidu Muppuri Department of Anesthesiology and Pain Medicine, Wayne State University/Detroit Medical Center, Detroit, MI, USA Abstract: In patients with advanced stages of cancer, severe pain is commonly encountered and is very difficult to treat. It affects the quality of life of the patient and the families involved. Pain can be managed using analgesics and adjuvant therapy. However, studies have shown that at least 10%–15% of patients fail to control pain adequately and will experience severe pain. We discuss the case of a 66-year-old female with metastatic adenoid cystic carcinoma of the left submandibular gland and developed paraplegia following intercostal neurolysis with phenol. After a successful diagnostic T6 to T12 intercostal nerve block, the patient was scheduled for an intercostal neurolytic block. We injected 2 mL of 10% aqueous phenol at each level on the left from the T6 to T12 ribs. One hour after the procedure, the patient developed bilateral lower extremity weakness with difficulty moving. A physical examination showed the absence of sensation to pinpricks and vibration from T10 to S5 and an absence of anal sphincter tone and sensation. Magnetic resonance images of the thoracic and lumbar spine showed leptomeningeal metastatic disease and myelitis. We postulate that the paraplegia could be from phenol diffusing along either the spinal nerves or the paravertebral venous plexus into the subarachnoid space. This case report points to the risks involved with phenol neurolysis close to the spine, and we propose alternative methods to minimize neurological complications. Keywords: intercostal neurolysis, pain, phenol, paraplegia 

  17. Understanding spasticity from patients' perspectives over time.

    Science.gov (United States)

    Bhimani, Rozina H; McAlpine, Cynthia Peden; Henly, Susan J

    2012-11-01

      The purpose of this paper was to report patients' understanding and perceptions of personal spasticity experiences over time.   Spasticity is an unpleasant and poorly understood experience associated with upper motor neuron disease.   An original qualitative study was conducted in 2008-2009.   Content analysis was used to extract meaning from the responses of 23 patients to semi-structured interviews during 7 days of acute rehabilitation for neurological diseases associated with spasticity. Findings.  Patients used words reflecting muscle tone and spasms to describe spasticity. Themes reflecting the spasticity experience over time were Ambiguous Experiences, Navigating Symptom Experience, Wounded Self, and Unending Journey.   Spasticity as experienced is complex, involving a wide range of unusual sensations sensitive to stressors in everyday life. Clinical evaluation of spasticity should include patient reports. Knowledge about patient word choice used to describe spasticity can enhance communication with healthcare providers. © 2012 Blackwell Publishing Ltd.

  18. Spasticity-assessment: a review

    DEFF Research Database (Denmark)

    Biering-Sørensen, F.; Nielsen, Jens Bo; Klinge, Klaus Peter

    2006-01-01

    Study design:Review of the literature on the validity and reliability of assessment of spasticity and spasms.Objectives:Evaluate the most frequently used methods for assessment of spasticity and spasms, with particular focus on individuals with spinal cord lesions.Setting:Clinic for Spinal Cord...... Injuries, Rigshospitalet, University Hospital of Copenhagen, and Department of Medical Physiology, University of Copenhagen, Denmark.Methods:The assessment methods are grouped into clinical, biomechanical and electrophysiological, and the correlation between these is evaluated.Results:Clinical methods......: For assessment of spasticity, the Ashworth and the modified Ashworth scales are commonly used. They provide a semiquantitative measure of the resistance to passive movement, but have limited interrater reliability. Guidelines for the testing procedures should be adhered to. Spasm frequency scales seem...

  19. Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1

    Science.gov (United States)

    2017-01-01

    Mast syndrome (SPG21) is an autosomal-recessive complicated form of hereditary spastic paraplegia characterized by dementia, thin corpus callosum, white matter abnormalities, and cerebellar and extrapyramidal signs in addition to spastic paraparesis. A nucleotide insertion resulting in premature truncation of the SPG21 gene product acidic cluster protein 33 (ACP33)/maspardin underlies this disorder, likely causing loss of protein function. However, little is known about the function of maspardin. Here, we report that maspardin localizes prominently to cytoplasm as well as to membranes, possibly at trans-Golgi network/late endosomal compartments. Immunoprecipitation of maspardin with identification of coprecipitating proteins by mass spectrometry revealed the aldehyde dehydrogenase ALDH16A1 as an interacting protein. This interaction was confirmed using overexpressed proteins as well as by fusion protein pull down experiments, and these proteins colocalized in cells. Further studies of the function of ALDH16A1 and the role of the maspardin–ALDH16A1 interaction in neuronal cells may clarify the cellular pathogenesis of Mast syndrome. PMID:19184135

  20. [A case of leptomeningeal melanomatosis with acute paraplegia and multiple cranial nerve palsies].

    Science.gov (United States)

    Hattori, Kasumi; Matsuda, Nozomu; Murakami, Takenobu; Ito, Eiichi; Ugawa, Yoshikazu

    2017-12-27

    A 62-year-old man with acute paraplegia was transferred to our hospital. He had flaccid paraplegia and multiple cranial nerve palsies, such as mydriasis of the left pupil, abduction palsy of the left eye, hoarseness and dysphagia, but no meningeal irritation signs. MRI of the spinal canal showed swellings of the conus medullaris and the cauda equine, and also contrast enhancement of the spinal meninges. The cerebrospinal fluid (CSF) showed pleocytosis and protein increment. The lymph node was swollen in his right axilla. The biopsy specimen from the right axillary lymph node revealed metastasis of malignant melanoma histologically. Careful check-up of his whole body found a malignant melanoma in the subungual region of the right ring finger. Repeated cytological examination revealed melanoma cells in the CSF, confirming the diagnosis of leptomeningeal melanomatosis. His consciousness was gradually deteriorated. His family members chose supportive care instead of chemotherapy or surgical therapy after full information about his conditions. Finally, he died 60 days after transfer to our hospital. This is a rare case of leptomenigeal melanomatosis presenting with acute paraplegia and multiple cranial nerve palsies. Careful follow-up and repeated studies are vital for the early diagnosis of leptomenigeal melanomatosis in spite of atypical clinical presentation.

  1. Spastin-Interacting Protein NA14/SSNA1 Functions in Cytokinesis and Axon Development

    Science.gov (United States)

    Chang, Jaerak; Blackstone, Craig

    2014-01-01

    Hereditary spastic paraplegias (HSPs) are a genetically diverse group of inherited neurological disorders (SPG1-72) with the cardinal feature of prominent lower-extremity spasticity due to a length-dependent axonopathy of corticospinal motor neurons. The most frequent form of autosomal dominant HSP results from mutations of the SPG4 gene product spastin. This is an ATPase associated with diverse cellular activities (AAA) protein that binds to and severs microtubules. While spastin participates in crucial cellular processes such as cytokinesis, endosomal tubulation, and axon development, its role in HSP pathogenesis remains unclear. Spastin interacts in cells with the NA14 protein, a major target for auto-antibodies in Sjögren's syndrome (nuclear autoantigen 1; SSNA1). Our analysis of endogenous spastin and NA14 proteins in HeLa cells and rat cortical neurons in primary culture revealed a clear distribution of both proteins to centrosomes, with NA14 localizing specifically to centrioles. Stable NA14 knockdown in cell lines dramatically affected cell division, in particular cytokinesis. Furthermore, overexpression of NA14 in neurons significantly increased axon outgrowth and branching, while also enhancing neuronal differentiation. We postulate that NA14 may act as an adaptor protein regulating spastin localization to centrosomes, temporally and spatially regulating the microtubule-severing activity of spastin that is particularly critical during the cell cycle and neuronal development. PMID:25390646

  2. Spastin-interacting protein NA14/SSNA1 functions in cytokinesis and axon development.

    Directory of Open Access Journals (Sweden)

    Uma Goyal

    Full Text Available Hereditary spastic paraplegias (HSPs are a genetically diverse group of inherited neurological disorders (SPG1-72 with the cardinal feature of prominent lower-extremity spasticity due to a length-dependent axonopathy of corticospinal motor neurons. The most frequent form of autosomal dominant HSP results from mutations of the SPG4 gene product spastin. This is an ATPase associated with diverse cellular activities (AAA protein that binds to and severs microtubules. While spastin participates in crucial cellular processes such as cytokinesis, endosomal tubulation, and axon development, its role in HSP pathogenesis remains unclear. Spastin interacts in cells with the NA14 protein, a major target for auto-antibodies in Sjögren's syndrome (nuclear autoantigen 1; SSNA1. Our analysis of endogenous spastin and NA14 proteins in HeLa cells and rat cortical neurons in primary culture revealed a clear distribution of both proteins to centrosomes, with NA14 localizing specifically to centrioles. Stable NA14 knockdown in cell lines dramatically affected cell division, in particular cytokinesis. Furthermore, overexpression of NA14 in neurons significantly increased axon outgrowth and branching, while also enhancing neuronal differentiation. We postulate that NA14 may act as an adaptor protein regulating spastin localization to centrosomes, temporally and spatially regulating the microtubule-severing activity of spastin that is particularly critical during the cell cycle and neuronal development.

  3. Acute Paraplegia due to Thoracic Hematomyelia

    Directory of Open Access Journals (Sweden)

    Aykut Akpınar

    2016-01-01

    Full Text Available Spontaneous intraspinal intramedullary hemorrhage is a rare entity with the acute onset of neurologic symptoms. The etiology of idiopathic spontaneous hematomyelia (ISH is unknown, and there are few published case reports. Hematomyelia is mostly associated with trauma, but the other nontraumatic etiologies are vascular malformations, tumors, bleeding disorders, syphilis, syrinx, and myelitis. MRI is a good choice for early diagnosis. Hematomyelia usually causes acute spinal cord syndrome due to the compression and destruction of the spinal cord. A high-dose steroid treatment and surgical decompression and evacuation of hematoma are the urgent solution methods. We present idiopathic spontaneous hematomyelia of a previously healthy 80-year-old male with a sudden onset of back pain and paraplegia.

  4. Case report: Basedow paraplegia: A possible misnomer | Smith ...

    African Journals Online (AJOL)

    Thyrotoxic myopathy frequently occurs in clinical practice; however, the association of hyperthyroidism with a flaccid, areflexic paraplegia, so-called ... It is important to consider and treat other causes, such as acute idiopathic polyneuritis.

  5. TREATMENT OF THE SPASTICITY IN CHILDREN WITH CEREBRAL PALSY

    Science.gov (United States)

    Meholjić-Fetahović, Ajša

    2007-01-01

    Botulinum toxin is a natural purified protein and one of the strongest biological poisons - neurotoxin. It is produced by the bacterium Clostridium botulinum. Its medical usage started in USA in 1981 and in Europe in 1992. There are seven different immune types of the toxin: A, B, C1, D, E, F and G. Toxin types A and B are used to decrease muscular spasticity. Botulinum toxin prevents the formation of acetylcholine from cholinergic nerve tissues in muscles, which in the end irreversibly destroys neuromuscular synapses. It is called temporary local chemodenervation. It does not affect the synthesis of acetylcholine. As it affects neuromuscular bond it also affects one of the symptoms of cerebral palsy - spasticity Decreasing the spasticity of children with cerebral palsy leads to the improvement of conscious movements, muscles are less toned, passive mobility is improved, orthosis tolerance is also improved, and the child is enabled to perform easier and better motor functions such as crawling, standing and walking. Since the action of Botulinum toxin is limited to 2-6 months, new neural collaterals are formed and neuromuscular conductivity is reestablished which in the end once again develops a muscular spasm. This leads to a conclusion that botulinum toxin should again be applied into spastic muscles. It is very important for good effect of Botulinum toxin to set the goals of the therapy in advance. The goals include improvement of a function, prevention of contractions and deformities, ease of care and decrease of pain for children with cerebral palsy. After application of botulinum toxin, it is necessary to perform adequate and intensive physical treatment with regular monitoring of effects. This work shows a case of a boy with spastic form of cerebral palsy. After being habilitated using Vojta therapy and Bobath concept and the conduct of certain physical procedures, botulinum toxin is administered into his lower limbs’ muscles and kinezitherapy intensified

  6. Treatment of the Spasticity in Children with Cerebral Palsy

    Directory of Open Access Journals (Sweden)

    Ajša Meholjić-Fetahović

    2008-11-01

    Full Text Available Botulinum toxin is a natural purified protein and one of the strongest biological poisons - neurotoxin. It is produced by the bacterium Clostridium botulinum. Its medical usage started in USA in 1981 and in Europe in 1992. There are seven different immune types of the toxin: A, B, C1, D, E, F and G. Toxin types A and B are used to decrease muscular spasticity. Botulinum toxin prevents the formation of acetylcholine from cholinergic nerve tissues in muscles, which in the end irreversibly destroys neuromuscular synapses. It is called temporary local chemodenervation. It does not affect the synthesis of acetylcholine.As it affects neuromuscular bond it also affects one of the symptoms of cerebral palsy - spasticity Decreasing the spasticity of children with cerebral palsy leads to the improvement of conscious movements, muscles are less toned, passive mobility is improved, orthosis tolerance is also improved, and the child is enabled to perform easier and better motor functions such as crawling, standing and walking. Since the action of Botulinum toxin is limited to 2-6 months, new neural collaterals are formed and neuromuscular conductivity is reestablished which in the end once again develops a muscular spasm. This leads to a conclusion that botulinum toxin should again be applied into spastic muscles.It is very important for good effect of Botulinum toxin to set the goals of the therapy in advance. The goals include improvement of a function, prevention of contractions and deformities, ease of care and decrease of pain for children with cerebral palsy. After application of botulinum toxin, it is necessary to perform adequate and intensive physical treatment with regular monitoring of effects.This work shows a case of a boy with spastic form of cerebral palsy. After being habilitated using Vojta therapy and Bobath concept and the conduct of certain physical procedures, botulinum toxin is administered into his lower limbs’ muscles and

  7. Paraplegia after myocardial revascularization. Case report.

    Science.gov (United States)

    Nigro Neto, Caetano; Iza, Milton Patricio Chango; Tardelli, Maria Angela

    2010-01-01

    Developments in anesthesiology have improved safety indices. Several techniques and agents are used to control the hemodynamic response and minimize adverse effects triggered by surgical stimuli in patients undergoing cardiac procedures. This is a 70 years old male patient, 1.74 m, 75 kg, ASA III, and NYHA II. The patient had controlled dyslipedemia, type II diabetes mellitus, and hypertension; history of smoking, peripheral vascular disease, and myocardial infarction 20 years ago. The patient underwent revascularization with the left internal mammary artery and saphenous grafts with extracorporeal circulation with intermittent clamping of the aorta. During the first 24 hours in the ICU, the patient developed hemodynamic instability, sudden hypotension, and atrial fibrillation. Twenty-six hours after the end of the surgery, the patient was awake, hemodynamically stable, and with good respiratory dynamics, being extubated. The patient was talkative and oriented, but immobile and negative reflexes in the lower limbs. Neurological evaluation showed: cranial nerves without changes, no complaints of pain below the hips, preserved superficial and deep sensitivity, adequate distal perfusion without edema, and flaccid paraplegia below T8. The echocardiogram did not show any changes. CT scan of the lumbosacral spine was negative for compressive mass in the epidural space or adjacent to it. Anterior spinal artery syndrome should be considered in procedures with manipulation of the aorta. Prevention, especially in patients at risk, is necessary. Computed tomography, for the differential diagnosis, and MRI, to localize the lesion, are important.

  8. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation.

    NARCIS (Netherlands)

    Kalscheuer, V.M.M.; Freude, K.; Musante, L.; Jensen, L.R.; Yntema, H.G.; Gecz, J.; Sefiani, A.; Hoffmann, K.; Moser, B.; Haas, S.; Gurok, U.; Haesler, S.; Aranda, B.; Nshedjan, A.; Tzschach, A.; Hartmann, N.; Roloff, T.C.; Shoichet, S.; Hagens, O.; Tao, J.; Bokhoven, J.H.L.M. van; Turner, G.; Chelly, J.; Moraine, C.; Fryns, J.P.; Nuber, U.; Hoeltzenbein, M.; Scharff, C.; Scherthan, H.; Lenzner, S.; Hamel, B.C.J.; Schweiger, S.; Ropers, H.H.

    2003-01-01

    We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously

  9. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

    DEFF Research Database (Denmark)

    Kalscheuer, Vera M; Freude, Kristine; Musante, Luciana

    2003-01-01

    We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previou...

  10. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

    NARCIS (Netherlands)

    Kalscheuer, VM; Freude, K; Musante, L; Jensen, LR; Yntema, HG; Gecz, J; Sefiani, A; Hoffmann, K; Moser, B; Haas, S; Gurok, U; Haesler, S; Aranda, B; Nshedjan, A; Tzschach, A; Hartmann, N; Roloff, TC; Shoichet, S; Hagens, O; Tao, J; van Bokhoven, H; Turner, G; Chelly, J; Moraine, C; Fryns, JP; Nuber, U; Hoeltzenbein, M; Scharff, C; Scherthan, H; Lenzner, S; Hamel, BCJ; Schweiger, S; Ropers, Hans-Hilger

    2003-01-01

    We found mutations in the gene PQBP1 in 5 of 29 families with nonsyndromic (MRX) and syndromic (MRXS) forms of X-linked mental retardation (XLMR). Clinical features in affected males include mental retardation, microcephaly, short stature, spastic paraplegia and midline defects. PQBP1 has previously

  11. Intrathecal Baclofen Pump for Spasticity

    Science.gov (United States)

    2005-01-01

    Executive Summary Objective To conduct an evidence-based analysis of the effectiveness and cost-effectiveness of intrathecal baclofen for spasticity. The Technology Spasticity is a motor disorder characterized by tight or stiff muscles that may interfere with voluntary muscle movements and is a problem for many patients with multiple sclerosis (MS), spinal cord injury (SCI), cerebral palsy (CP), and acquired brain injury (ABI).(1). Increased tone and spasm reduces mobility and independence, and interferes with activities of daily living, continence and sleep patterns. Spasticity may also be associated with significant pain or discomfort (e.g., due to poor fit in braces, footwear, or wheelchairs), skin breakdown, contractures, sleep disorders and difficulty in transfer. Goals of treatment are to decrease spasticity in order to improve range of motion, facilitate movement, reduce energy expenditure and reduce risk of contractures. Existing treatments include physical therapy, oral medications, injections of phenol or botulinum toxin, or surgical intervention. Baclofen is the oral drug most frequently prescribed for spasticity in cases of SCI and MS.(1) Baclofen is a muscle relaxant and antispasticity drug. In the brain, baclofen delivered orally has some supraspinal activity that may contribute to clinical side effects. The main adverse effects of oral baclofen include sedation, excessive weakness, dizziness, mental confusion, and somnolence.(2) The incidence of adverse effects is reported to range from 10% to 75%.(2) Ochs et al. estimated that approximately 25-30% of SCI and MS patients fail to respond to oral baclofen.(3;4) Adverse effects appear to be dose-related and may be minimized by initiating treatment at a low dose and gradually titrating upwards.(2) Adverse effects usually appear at doses >60 mg/day.(2) The rate of treatment discontinuation due to intolerable adverse effects has generally been reported to range from 4% to 27%.(2) When baclofen is

  12. Spinal cord potentials in traumatic paraplegia and quadriplegia.

    Science.gov (United States)

    Sedgwick, E M; el-Negamy, E; Frankel, H

    1980-01-01

    Cortical, cervical and lumbar somatosensory evoked potentials were recorded following median and tibial nerve stimulation in patients with traumatic paraplegia and quadriplegia. The isolated cord was able to produce normal potentials even during spinal shock if the vertical extent of the lesion did not involve the generator mechanisms. The cervical potentials showed subtle changes in paraplegia at Th5 levels and below. In high cervical lesions the early cervical potentials may still be present but the later potentials were absent or, in partial lesions, delayed. PMID:7420105

  13. Rare presentations of hyperthyroidism--Basedow's paraplegia and pancytopenia.

    Science.gov (United States)

    Chen, Yi-Hsien; Lin, Hung-Jung; Chen, Kuo-Tai

    2009-02-01

    Typical presentations of hyperthyroidism are palpitation, nervousness, tremor, malaise, and weight loss. Hyperthyroidism affects nearly every system in the body, and some patients may manifest neurologic or hematologic symptoms. Atypical presentations of hyperthyroidism often pose a great challenge in diagnosis and treatment. We report a case of Basedow's paraplegia and pancytopenia that was precipitated by hyperthyroidism. The unusual manifestations led to unnecessary examinations and delayed the treatment of hyperthyroidism. The classical symptoms of Basedow's paraplegia are subacute symmetric weakness of the lower extremities with areflexia and sparing sensation or sphincter involvement. Control of the hyperthyroidism mitigated the neurologic and hematologic complications and prevented unnecessary studies.

  14. The relationship between spasticity and gross motor capability in nonambulatory children with spastic cerebral palsy.

    Science.gov (United States)

    Katusic, Ana; Alimovic, Sonja

    2013-09-01

    Spasticity has been considered as a major impairment in cerebral palsy (CP), but the relationship between this impairment and motor functions is still unclear, especially in the same group of patients with CP. The aim of this investigation is to determine the relationship between spasticity and gross motor capability in nonambulatory children with spastic CP. Seventy-one children (30 boys, 41 girls) with bilateral spastic cerebral palsy and with Gross Motor Function Classification System (GMFCS) levels IV (n=34) and V (n=37) were included in the study. The spasticity level in lower limbs was evaluated using the Modified Modified Ashworth Scale and the gross motor function with the Gross Motor Function Measure (GMFM-88). Spearman's correlation analysis was used to determine the nature and the strength of the relationship. The results showed a moderate correlation between spasticity and gross motor skills (ρ=0.52 for the GMFCS level; ρ=0.57 for the GMFM-88), accounting for less than 30% of the explained variance. It seems that spasticity is just one factor among many others that could interfere with gross motor skills, even in children with severe forms of spastic CP. Knowledge of the impact of spasticity on motor skills may be useful in the setting of adequate rehabilitation strategies for nonambulatory children with spastic CP.

  15. A case of acute paraplegia that improved with dialysis.

    Science.gov (United States)

    Rajendiran, Govarthanan; Jayabalan, Rajamahesh; Chandrahasan, Saravanan; Mani, Ashwin Kumar

    2008-01-01

    Acute severe hyperkalemia can present as acute paraplegia independent of cardiac effects, even though cardiac muscle is more sensitive to serum potassium changes. We managed a patient with acute hyperkalemic paralysis who did not have threatening cardiac/electrocardiographic manifestations. The limb weakness became normal after hemodialysis.

  16. [Evaluation of pendulum testing of spasticity].

    Science.gov (United States)

    Le Cavorzin, P; Hernot, X; Bartier, O; Carrault, G; Chagneau, F; Gallien, P; Allain, H; Rochcongar, P

    2002-11-01

    To identify valid measurements of spasticity derived from the pendulum test of the leg in a representative population of spastic patients. Pendulum testing was performed in 15 spastic and 10 matched healthy subjects. The reflex-mediated torque evoked in quadriceps femoris, as well as muscle mechanical parameters (viscosity and elasticity), were calculated using mathematical modelling. Correlation with the two main measures derived from the pendulum test reported in the literature (the Relaxation Index and the area under the curve) was calculated in order to select the most valid. Among mechanical parameters, only viscosity was found to be significantly higher in the spastic group. As expected, the computed integral of the reflex-mediated torque was found to be larger in spastics than in healthy subjects. A significant non-linear (logarithmic) correlation was found between the clinically-assessed muscle spasticity (Ashworth grading) and the computed reflex-mediated torque, emphasising the non-linear behaviour of this scale. Among measurements derived from the pendulum test which are proposed in the literature for routine estimation of spasticity, the Relaxation Index exhibited an unsuitable U-shaped pattern of variation with increasing reflex-mediated torque. On the opposite, the area under the curve revealed a linear regression, which is more convenient for routine estimation of spasticity. The pendulum test of the leg is a simple technique for the assessment of spastic hypertonia. However, the measurement generally used in the literature (the Relaxation Index) exhibits serious limitations, and would benefit to be replaced by more valid measures, such as the area under the goniometric curve, especially for the assessment of therapeutics.

  17. Pharmacological management of spasticity in multiple sclerosis

    DEFF Research Database (Denmark)

    Otero-Romero, Susana; Sastre-Garriga, Jaume; Comi, Giancarlo

    2016-01-01

    Background and objectives: Treatment of spasticity poses a major challenge given the complex clinical presentation and variable efficacy and safety profiles of available drugs. We present a systematic review of the pharmacological treatment of spasticity in multiple sclerosis (MS) patients. Methods...... improvement is seen with the previous drugs. Nabiximols has a positive effect when used as add-on therapy in patients with poor response and/or tolerance to first-line oral treatments. Despite limited evidence, intrathecal baclofen and intrathecal phenol show a positive effect in severe spasticity...... and suboptimal response to oral drugs. Conclusion: The available studies on spasticity treatment offer some insight to guide clinical practice but are of variable methodological quality. Large, well-designed trials are needed to confirm the effectiveness of antispasticity agents and to produce evidence...

  18. The fifth adaptor protein complex.

    Directory of Open Access Journals (Sweden)

    Jennifer Hirst

    2011-10-01

    Full Text Available Adaptor protein (AP complexes sort cargo into vesicles for transport from one membrane compartment of the cell to another. Four distinct AP complexes have been identified, which are present in most eukaryotes. We report the existence of a fifth AP complex, AP-5. Tagged AP-5 localises to a late endosomal compartment in HeLa cells. AP-5 does not associate with clathrin and is insensitive to brefeldin A. Knocking down AP-5 subunits interferes with the trafficking of the cation-independent mannose 6-phosphate receptor and causes the cell to form swollen endosomal structures with emanating tubules. AP-5 subunits can be found in all five eukaryotic supergroups, but they have been co-ordinately lost in many organisms. Concatenated phylogenetic analysis provides robust resolution, for the first time, into the evolutionary order of emergence of the adaptor subunit families, showing AP-3 as the basal complex, followed by AP-5, AP-4, and AP-1 and AP-2. Thus, AP-5 is an evolutionarily ancient complex, which is involved in endosomal sorting, and which has links with hereditary spastic paraplegia.

  19. Mania associated with complicated hereditary spastic paraparesis

    OpenAIRE

    Raghavendra B Nayak; Govind S Bhogale; Nanasaheb M Patil; Aditya A Pandurangi

    2011-01-01

    Hereditary spastic paraparesis (HSP) is an inherited group of neurological disorders with progressive lower limb spasticity. HSP can be clinically grouped into pure and complicated forms. Pure HSP is one without any associated neurological/psychiatric comorbidity. Depression is the most common psychiatric comorbidity. Presence of mania or bipolar affective illness with HSP is a rare phenomenon. We report a case of a 17-year-old boy who presented with classical features of HSP with complaints ...

  20. Validity and Inter-Rater Reliability of a Novel Bedside Referral Tool for Spasticity

    Science.gov (United States)

    2018-02-20

    Spasticity, Muscle; Muscular Diseases; Musculoskeletal Disease; Muscle Hypertonia; Muscle Spasticity; Neuromuscular Manifestations; Signs and Symptoms; Nervous System Diseases; Neurologic Manifestations

  1. [Spasticity and dynamic plantar pressure distribution measurements in hemiplegic spastic children].

    Science.gov (United States)

    Femery, V; Moretto, P; Renaut, H; Thévenon, A

    2001-02-01

    The aim of this study was to analyse the plantar pressure distribution in nine hemiplegic spastic children to illustrate the dynamic alteration during stance phase linked spasticity grade. The graduation of the lower limbs muscle tone related to the Aschworth spasticity scale enabled us to identify two groups of hemiplegics subjects. The groups Asch 1 and Asch 3 have respectively presented a low and a strong spasticity. The peak pressures during consecutive gait cycles were determined under the feet of 30 healthy subjects and two cerebral palsy groups using a wearable footprint analysis system. A statistical study showed a similarity between the two disabled groups. Peak pressures under the midfoot were significantly higher compared to the control group. While the plantar pressure distribution profile was specific for each group under all other anatomical structures. The significant alterations were observed under the forefoot and hallux. Spasticity modifies the foot contact to ground and leads to a specific plantar pressure distribution profile linked to the spasticity grade. The equinovarus with clawed toes deformity due to higher spasticity seems to be an important factor in terminal stance phase perturbations. However spastic hemiplegic subjects seem to adopt a gait pattern in agreement with stability optimization criteria.

  2. Radiotherapy of paraplegias caused by extramedullar hemopoietic tissue

    International Nuclear Information System (INIS)

    Dietz, R.; Niewald, M.; Schnabel, K.; Berberich, W.

    1985-01-01

    The presentation by computed tomography of an extramedullar epidural intraspinal hemopoisis has only been described sporadically. It has been possible to visualize by CT-scans the regression under radiotherapy of a sensory and motor paraplegia in a 17 years old patient with β-thalassemia major. The central nevous system (thoracic and lumbar zone as well as os sacrum) was exposed to a total reference dose of 30 Gy which was administered within twenty days by a 60 Co unit in single doses of 2 Gy each. From 4 Gy on, the paraplegic symptoms regressed continuously. The control CT taken after 26 Gy - the paraplegia had completely disappeared as this time - showed a significant regression of the intraspinal soft tissue masses. Radiotherapy is very important in the treatment of this disease. A direct correlation is found between clinical symptoms and CT-presentation. (orig.) [de

  3. A unique case of Babesia gibsoni infected dog with paraplegia

    OpenAIRE

    Gonde, Suresh; Chhabra, S.; Uppal, S. K.; Singla, L. D.; Randhawa, S. S.

    2016-01-01

    A 4 year old male Rottweiler was presented to Teaching Veterinary Clinics of GADVASU with a primary complaint of paraplegia, fever and inappetence. The dog was found to be dull with elevated rectal temperature (105 °F), heart rate (158 per minute) and respiration rate (57 per minute). Blood smear examination and PCR assay revealed that dog was positive for Babesia gibsoni. Elevated bilirubin, alanine aminotransferase, alkaline phosphatase, creatinine, total leucocyte count, neutrophils and hy...

  4. Hereditary spastic paraplegia is not associated with C9ORF72 repeat expansions in a Danish cohort

    DEFF Research Database (Denmark)

    Nielsen, T T; Svenstrup, K; Duno, M

    2014-01-01

    ) in C9ORF72 have been found to cause frontotemporal dementia (FTD), amyotrophic lateral sclerosis and FTD with motor neuron disease. Owing to the overlapping phenotypes among HSP, amyotrophic lateral sclerosis and FTD with motor neuron disease along with shared pathological findings, we hypothesized...

  5. Body-Sensor-Network-Based Spasticity Detection.

    Science.gov (United States)

    Misgeld, Berno J E; Luken, Markus; Heitzmann, Daniel; Wolf, Sebastian I; Leonhardt, Steffen

    2016-05-01

    Spasticity is a common disorder of the skeletal muscle with a high incidence in industrialised countries. A quantitative measure of spasticity using body-worn sensors is important in order to assess rehabilitative motor training and to adjust the rehabilitative therapy accordingly. We present a new approach to spasticity detection using the Integrated Posture and Activity Network by Medit Aachen body sensor network (BSN). For this, a new electromyography (EMG) sensor node was developed and employed in human locomotion. Following an analysis of the clinical gait data of patients with unilateral cerebral palsy, a novel algorithm was developed based on the idea to detect coactivation of antagonistic muscle groups as observed in the exaggerated stretch reflex with associated joint rigidity. The algorithm applies a cross-correlation function to the EMG signals of two antagonistically working muscles and subsequent weighting using a Blackman window. The result is a coactivation index which is also weighted by the signal equivalent energy to exclude positive detection of inactive muscles. Our experimental study indicates good performance in the detection of coactive muscles associated with spasticity from clinical data as well as measurements from a BSN in qualitative comparison with the Modified Ashworth Scale as classified by clinical experts. Possible applications of the new algorithm include (but are not limited to) use in robotic sensorimotor therapy to reduce the effect of spasticity.

  6. Etiologic profile of spastic quadriplegia in children.

    Science.gov (United States)

    Venkateswaran, Sunita; Shevell, Michael I

    2007-09-01

    The etiologic profile and possible predictors of etiology in children with spastic quadriplegia were assessed in a consecutive cohort of children with this motor impairment. Medical records from a single pediatric neurology practice over a 14-year interval were retrospectively and systematically reviewed. Variables comprised possible demographic, prenatal, perinatal, and postnatal risk factors. Of the 99 patients included in the study, 39 were premature (quadriplegia was 83%, with differing underlying etiologies depending on gestational age. These results should help guide physicians in investigating possible underlying etiologies in patients with spastic quadriplegia.

  7. Spasticity: its physiology and management. Part IV. Current and projected treatment procedures for spasticity.

    Science.gov (United States)

    Bishop, B

    1977-04-01

    Today's prescriptions for treating spasticity may include pharmacological, surgical, or physical procedures. All derive their rationale from the classical concepts of decerebrate rigidity and of brain organization as discussed in Part I. This paper describes the advantages and disadvantages of these current treatment procedures and proposes that recent discoveries about the "recovery" capabilities of the central nervous system may influence the means for managing spasticity in the future.

  8. Treatment diary for botulinum toxin spasticity treatment

    DEFF Research Database (Denmark)

    Biering-Sørensen, Bo; Iversen, Helle K; Frederiksen, Inge M S

    2017-01-01

    The aim of this study is to develop a treatment diary for patients receiving spasticity treatment including botulinum toxin injection and physiotherapy and/or occupational therapy. The diary focuses on problems triggered by skeletal muscle overactivity; agreed goals for treatment and the patient...

  9. Role of the AP-5 adaptor protein complex in late endosome-to-Golgi retrieval.

    Directory of Open Access Journals (Sweden)

    Jennifer Hirst

    2018-01-01

    Full Text Available The AP-5 adaptor protein complex is presumed to function in membrane traffic, but so far nothing is known about its pathway or its cargo. We have used CRISPR-Cas9 to knock out the AP-5 ζ subunit gene, AP5Z1, in HeLa cells, and then analysed the phenotype by subcellular fractionation profiling and quantitative mass spectrometry. The retromer complex had an altered steady-state distribution in the knockout cells, and several Golgi proteins, including GOLIM4 and GOLM1, were depleted from vesicle-enriched fractions. Immunolocalisation showed that loss of AP-5 led to impaired retrieval of the cation-independent mannose 6-phosphate receptor (CIMPR, GOLIM4, and GOLM1 from endosomes back to the Golgi region. Knocking down the retromer complex exacerbated this phenotype. Both the CIMPR and sortilin interacted with the AP-5-associated protein SPG15 in pull-down assays, and we propose that sortilin may act as a link between Golgi proteins and the AP-5/SPG11/SPG15 complex. Together, our findings suggest that AP-5 functions in a novel sorting step out of late endosomes, acting as a backup pathway for retromer. This provides a mechanistic explanation for why mutations in AP-5/SPG11/SPG15 cause cells to accumulate aberrant endolysosomes, and highlights the role of endosome/lysosome dysfunction in the pathology of hereditary spastic paraplegia and other neurodegenerative disorders.

  10. Functional MR imaging and traumatic paraplegia: preliminary report.

    Science.gov (United States)

    Sabbah, P; Lévêque, C; Pfefer, F; Nioche, C; Gay, S; Sarrazin, J L; Barouti, H; Tadie, M; Cordoliani, Y S

    2000-12-01

    To evaluate residual activity in the sensorimotor cortex of the lower limbs in paraplegia. 5 patients suffering from a complete paralysis after traumatic medullar lesion (ASIA=A). Clinical evaluation of motility and sensitivity. 1. Control functional MR study of the sensorimotor cortex during simultaneous movements of hands, imaginary motor task and passive hands stimulation. 2. Concerning the lower limbs, 3 fMRI conditions: 1-patient attempts to move his toes with flexion-extension, 2-mental imagery task of the same movement, 3-peripheral passive proprio-somesthesic stimulation (squeezing) of the big toes. Activations were observed in the primary sensorimotor cortex (M1), premotor regions and in the supplementary motor area (SMA) during movement and mental imaginary tasks in the control study and during attempt to move and mental imaginary tasks in the study concerning the lower limbs. Passive somesthesic stimulation generated activation posterior to the central sulcus for 2 patients. Activations in the sensorimotor cortex of the lower limbs can be generated either by attempting to move or mental evocation. In spite of a clinical evaluation of complete paraplegia, fMRI can show a persistence of sensitive anatomic conduction, confirmed by Somesthesic Evoked Potentials.

  11. Disruption of basal lamina components in neuromotor synapses of children with spastic quadriplegic cerebral palsy.

    Directory of Open Access Journals (Sweden)

    Karyn G Robinson

    Full Text Available Cerebral palsy (CP is a static encephalopathy occurring when a lesion to the developing brain results in disordered movement and posture. Patients present with sometimes overlapping spastic, athetoid/dyskinetic, and ataxic symptoms. Spastic CP, which is characterized by stiff muscles, weakness, and poor motor control, accounts for ∼80% of cases. The detailed mechanisms leading to disordered movement in spastic CP are not completely understood, but clinical experience and recent studies suggest involvement of peripheral motor synapses. For example, it is recognized that CP patients have altered sensitivities to drugs that target neuromuscular junctions (NMJs, and protein localization studies suggest that NMJ microanatomy is disrupted in CP. Since CP originates during maturation, we hypothesized that NMJ disruption in spastic CP is associated with retention of an immature neuromotor phenotype later in life. Scoliosis patients with spastic CP or idiopathic disease were enrolled in a prospective, partially-blinded study to evaluate NMJ organization and neuromotor maturation. The localization of synaptic acetylcholine esterase (AChE relative to postsynaptic acetylcholine receptor (AChR, synaptic laminin β2, and presynaptic vesicle protein 2 (SV2 appeared mismatched in the CP samples; whereas, no significant disruption was found between AChR and SV2. These data suggest that pre- and postsynaptic NMJ components in CP children were appropriately distributed even though AChE and laminin β2 within the synaptic basal lamina appeared disrupted. Follow up electron microscopy indicated that NMJs from CP patients appeared generally mature and similar to controls with some differences present, including deeper postsynaptic folds and reduced presynaptic mitochondria. Analysis of maturational markers, including myosin, syntrophin, myogenin, and AChR subunit expression, and telomere lengths, all indicated similar levels of motor maturation in the two groups

  12. Sexualidade e paraplegia: o dito, o explícito e o oculto

    OpenAIRE

    França, Inacia Sátiro Xavier de; Chaves, Adriana de Freitas

    2005-01-01

    INTRODUÇÃO: A intenção de contribuir para o desenvolvimento de ações educativas que desmistifiquem mitos e tabus relacionados a sexualidade da pessoa portadora de paraplegia e melhorar a qualidade de vida desse tipo de cliente motivou a seleção do objeto "sexualidade da mulher portadora de paraplegia". OBJETIVO: Compreender a construção de sentidos das mulheres portadoras de paraplegia acerca da sexualidade e relatar as barreiras enfrentadas por estas mulheres para vivenciar sua sexualidade. ...

  13. Paraplegia due to extramedullary hematopoiesis in thalassemia treated successfully with radiation therapy.

    Science.gov (United States)

    Malik, Monica; Pillai, Lakshmi S; Gogia, Nidhi; Puri, Tarun; Mahapatra, M; Sharma, Daya Nand; Kumar, Rajat

    2007-03-01

    Spinal cord compression due to extramedullary hematopoiesis (EMH) is a rare complication of thalassemia and generally presents as paraparesis with sensory impairment. Complete paraplegia is extremely rare in EMH due to thalassemia although it is known to occur in polycythemia vera and sickle cell anemia. Treatment options mostly include surgery and/or radiotherapy. Whereas cases presenting with paraparesis have been treated with either surgery or radiotherapy with equal frequency and efficacy, almost all reported cases with paraplegia have been treated with surgery with or without radiation therapy. We hereby report a case of thalassemia intermedia with paraplegia treated successfully with radiotherapy.

  14. Tropical spastic paraparesis in Northeastern Brazil

    Directory of Open Access Journals (Sweden)

    C. M. de Castro Costa

    1989-06-01

    Full Text Available Ten possible cases of tropical spastic paraparesis (TSP in Northeastern Brazil (Ceará are presented. They show the typical symptoms and signs of TSP consisting of weakness of the lower limbs, spastic gait, hiperreflexia, bladder dysfunction and variable signs of posterior columns impairment. The laboratory examinations excluded other compressive, infective, degenerative or demyelinating lesions of their spinal cord. Our patients age ranged from 21 to 59 years, all were of black origin and all were of lower social class. There was a slight preponderance of females. An etiological implication of a retrovirus (HTLV-I has been shown for TSP, but for lack of technical conditions we could not determine it in our patients, and that stands as our subsequent step in those and further cases.

  15. Mania associated with complicated hereditary spastic paraparesis

    Directory of Open Access Journals (Sweden)

    Raghavendra B Nayak

    2011-01-01

    Full Text Available Hereditary spastic paraparesis (HSP is an inherited group of neurological disorders with progressive lower limb spasticity. HSP can be clinically grouped into pure and complicated forms. Pure HSP is one without any associated neurological/psychiatric comorbidity. Depression is the most common psychiatric comorbidity. Presence of mania or bipolar affective illness with HSP is a rare phenomenon. We report a case of a 17-year-old boy who presented with classical features of HSP with complaints of excessive happiness, irritability, increased self-esteem and decreased sleep since 1 month. The patient also had complex partial seizure ever since he had features of HSP. The patient′s father and younger sister suffer from pure HSP. The patient was diagnosed to have first episode mania with complicated HSP. The details of treatment and possible neurobiology are discussed in this case report.

  16. Mania associated with complicated hereditary spastic paraparesis.

    Science.gov (United States)

    Nayak, Raghavendra B; Bhogale, Govind S; Patil, Nanasaheb M; Pandurangi, Aditya A

    2011-07-01

    Hereditary spastic paraparesis (HSP) is an inherited group of neurological disorders with progressive lower limb spasticity. HSP can be clinically grouped into pure and complicated forms. Pure HSP is one without any associated neurological/psychiatric comorbidity. Depression is the most common psychiatric comorbidity. Presence of mania or bipolar affective illness with HSP is a rare phenomenon. We report a case of a 17-year-old boy who presented with classical features of HSP with complaints of excessive happiness, irritability, increased self-esteem and decreased sleep since 1 month. The patient also had complex partial seizure ever since he had features of HSP. The patient's father and younger sister suffer from pure HSP. The patient was diagnosed to have first episode mania with complicated HSP. The details of treatment and possible neurobiology are discussed in this case report.

  17. [H reflex in patients with spastic quadriplegia].

    Science.gov (United States)

    Miyama, Sahoko; Arimoto, Kiyoshi; Kimiya, Satoshi

    2009-01-01

    Hoffmann reflex (H reflex) is an electrically elicited spinal monosynaptic reflex. H reflex was examined in 18 patients with spastic quadriplegia who had perinatal or postnatal problems. H reflex was elicitable in 11 patients for the abductor pollicis brevis (61.1%), 10 for the abductor digiti minimi (55.6%) and 16 for the abductor hallucis (88.9%). Because the abductor pollicis brevis and the abductor digiti minimi do not exhibit H reflex in normal subjects, it was suggested that the excitability of alpha motor neurons innervating these muscles was increased. H reflex was not detected for the extensor digitorum brevis in any patients, indicating the difference in the excitability among alpha motor neurons. In some patients, H reflex did not disappear under supramaximal stimuli. We conclude that the mechanism of evolution of H reflex in patients with spastic quadriplegia is different from that in normal subjects.

  18. Paraplegia following epidural analgesia: A potentially avoidable cause?

    Directory of Open Access Journals (Sweden)

    Jeson R Doctor

    2014-01-01

    Full Text Available Neurological deficit is an uncommon but catastrophic complication of epidural anesthesia. Epidural hematomas and abscesses are the most common causes of such neurological deficit. We report the case of a patient with renal cell carcinoma with lumbar vertebral metastasis who developed paraplegia after receiving thoracic epidural anesthesia for a nephrectomy. Subsequently, on histo-pathological examination of the laminectomy specimen, the patient was found to have previously undiagnosed thoracic vertebral metastases which led to a thoracic epidural hematoma. In addition, delayed reporting of symptoms of neurological deficit by the patient may have impacted his outcome. Careful pre-operative investigation, consideration to using alternative modalities of analgesia, detailed patient counseling and stringent monitoring of patients receiving central neuraxial blockade is essential to prevent such complications.

  19. Thyrotoxic Neuropathy: A rare cause of acute flaccid paraplegia

    Directory of Open Access Journals (Sweden)

    Aiman K. Al-Wahaibi

    2018-01-01

    Full Text Available Acute polyneuropathy is a rare manifestation of severe hyperthyroidism. We report a 22-year-old Omani male who presented to the Sohar Hospital, Sohar, Oman, in 2016 with acute-onset rapidly progressive flaccid areflexic paraplegia as the presenting manifestation of thyrotoxicosis. Nerve conduction studies revealed mixed axonal and demyelinating polyneuropathy in both the motor and sensory nerves. Treatment of the hyperthyroidism with β-blockers and carbimazole along with physiotherapy resulted in the patient’s full recovery and the alleviation of his symptoms. Besides highlighting this rare association, this report underscores the importance of including thyroid function tests in the evaluation of patients with acute polyneuropathy.

  20. Extramedullary hematopoiesis and paraplegia in a patient with hemoglobin e-Beta thalassemia.

    Science.gov (United States)

    Alam, M R; Habib, M S; Dhakal, G P; Khan, M R; Rahim, M A; Chowdhury, A J; Mahmud, T K

    2010-07-01

    Extramedullary hematopoiesis (EMH) occurs in patients with various hematologic disorders involving a chronic increase in the production of red blood cells, and is often associated polycythemia vera and sickle cell anaemia, but is less common with thalassemia especially with hemoglobin E-beta thalassemia. Spinal cord compression due to EMH is a extremely rare complication of thalassemia and may present with paraparesis or paraplegia with or without sensory impairment. Treatment options mostly include surgery and/or radiotherapy. Whereas cases presenting with paraplegia have been treated with either surgery or radiotherapy with equal frequency and efficacy, almost all reported cases with paraplegia have been treated with surgery with or without radiation therapy. We hereby report a case of hemoglobin E-beta thalassemia with paraplegia treated successfully with radiotherapy.

  1. Unusual presentation of aortic dissection: Post-coital acute paraplegia with renal failure

    Directory of Open Access Journals (Sweden)

    Dinith P Galabada

    2014-01-01

    Full Text Available We report the case of a 45-year-old chronic smoker who presented with acute paraplegia occurring during coitus and subsequently developed acute renal failure (ARF requiring dialysis. He had absent peripheral pulses in the lower limbs with evidence of acute ischemia. Doppler study showed dissecting aneurysm of thoracic aorta, thrombotic occlusion of the distal aorta from L1 level up to bifurcation and occlusion of the right renal artery by a thrombus that was confirmed by magnetic resonance imaging of the spine. He was not subjected to any vascular intervention as his lower limbs were not salvageable due to delay in the diagnosis. Post-coital aortic dissection and aortic dissection presenting with acute paraplegia and ARF are very rare. This is probably the first case report with post-coital acute aortic dissection presenting with paraplegia and ARF. This case emphasizes the importance of a careful examination of peripheral pulses in patients presenting with ARF and paraplegia.

  2. Prevention of paraplegia after endovascular exclusion for stanford B thoracic aortic dissection aneurism

    International Nuclear Information System (INIS)

    Feng Rui; Jing Zaiping; Bao Junmin; Zhao Zhiqing; Zhao Jun; Feng Xiang; Lu Qingsheng; Huang Cheng

    2003-01-01

    Objective: To assess the prophylactic measures of paraplegia and paralysis after endovascular graft exclusion (EVE) for Stanford B thoracic aortic dissections (TAD). Methods: The records of 116 consecutive patients undergoing endovascular TAD repair from 1998 to 2001 were retrospectively reviewed. Steroids were administrated postoperatively in high risk patients likely to be candidates for paraplegia or paralysis. Results: No paraplegia or paralysis occurred postoperatively in all cases, including the patient undergone selective spinal artery angiography (SSAA). Conclusions: Transluminal repair can avoid spinal cord ischemia due to aortic cross-clamping, there is still a risk of spinal cord injury caused by occlusion of intercostal arteries under the cover of endograft. A combination of the prophylactic measures, including SSAA and steroids, have been able to reduce the risk of paraplegia and paralysis. A graft-stent of appropriate length is the key point of this procedure

  3. A large primary vaginal calculus in a woman with paraplegia.

    Science.gov (United States)

    Avsar, Ayse Filiz; Keskin, Huseyin Levent; Catma, Tuba; Kaya, Basak; Sivaslioglu, Ahmet Akın

    2013-01-01

    The study aimed to report a primary vaginal stone, an extremely rare entity, without vesicovaginal fistula in a woman with disability. We describe the case of a large primary vaginal calculus in a 22-year-old woman with paraplegia, which, surprisingly, was not diagnosed until she was examined under general anesthesia during a preparation for laparoscopy for an adnexal mass. The stone had not been identified by physical examination with the patient in a recumbent position or by transabdominal ultrasonography and pelvic tomography during the preoperative preparation. Vaginoscopy was not performed because the vagina was completely filled with the mass. As a result of its size and hard consistency, a right-sided episiotomy was performed and a 136-g stone was removed using ring forceps. A vesicovaginal fistula was excluded. There was no evidence of a foreign body or other nidus on the cut section of the stone, and it was determined to be composed of 100% struvite (ammonium magnesium phosphate). Culture of urine obtained via catheter showed Escherichia coli. After the surgical removal of the calculus without complications, a program of intermittent catheterization was started. The follow-up period was uneventful, and the patient was symptom free at 6 months after the operation. We postulate that the calculus formed as a consequence of urinary contamination of the vagina in association with incontinence and prolonged maintenance in a recumbent posture. This report is important because it highlights that, although vaginal stones are very rare, their possibility should be considered in the differential diagnosis of individuals with long-term paraplegia.

  4. Oculodentodigital Dysplasia Presenting as Spastic Paraparesis: The First Genetically Confirmed Korean Case and a Literature Review

    Directory of Open Access Journals (Sweden)

    Kye Won Park

    2017-09-01

    Full Text Available Oculodentodigital dysplasia (ODDD is a rare autosomal dominant inherited disease caused by mutations of the human gap junction alpha 1 gene, which encodes the protein Connexin-43. Patients with ODDD may present with neurological deficits with a typical pleiotropic combination of characteristic craniofacial, ophthalmological, phalangeal, and dental anomalies. In this report, we describe the first genetically confirmed Korean ODDD patient, who presented with spastic paraparesis. We will also review the neurological aspects of ODDD as reported in the literature.

  5. Clinical Evaluation of Percutaneous Vertebroplasty in a Patient with Paraplegia and Immobilization Syndrome: A Case Report

    OpenAIRE

    Masala, Salvatore; Calabria, Eros; Nezzo, Marco; De Vivo, Dominique; Neroni, Luca; Simonetti, Giovanni

    2013-01-01

    We will discuss a potential role of percutaneous vertebroplasty (PVP) in the management of a patient with immobilization syndrome due to paraplegia and vertebral osteoporotic fractures. While PVP is commonly used for the treatment of osteoporotic thoracolumbar vertebral compression fractures, its role in vertebral stabilization in patient with immobilization syndrome has not been reported in the literature. A 73-year-old woman affected by immobilization syndrome due to paraplegia and vertebra...

  6. Management of spastic hand by selective peripheral neurotomies ...

    African Journals Online (AJOL)

    Introduction: Selective peripheral neurotomies (SPN) are proposed when spasticity is focalized on muscles that are under the control of a single or few peripheral nerves. Objective: This study was done to evaluate the functional results of SPN of median and ulnar nerves in 10 patients who had spastic hyperflexion of the ...

  7. New insights into the pathophysiology of post-stroke spasticity

    Directory of Open Access Journals (Sweden)

    Sheng eLi

    2015-04-01

    Full Text Available Spasticity is one of many consequences after stroke. It is characterized by a velocity-dependent increase in resistance during passive stretch, resulting from hyperexcitability of the stretch reflex. The underlying mechanism of the hyperexcitable stretch reflex, however, remains poorly understood. Accumulated experimental evidence has supported supraspinal origins of spasticity, likely from an imbalance between descending inhibitory and facilitatory regulation of spinal stretch reflexes secondary to cortical disinhibition after stroke. The excitability of reticulospinal and vestibulospinal tracts has been assessed in stroke survivors with spasticity using non-invasive indirect measures. There are strong experimental findings that support the reticulospinal hyperexcitability as a prominent underlying mechanism of post-stroke spasticity. This mechanism can at least partly account for clinical features associated with spasticity and provide insightful guidance for clinical assessment and management of spasticity. However, the possible role of VST hyperexcitability can not be ruled out from indirect measures. In vivo measure of individual brainstem nuclei in stroke survivors with spasticity using advanced fMRI techniques in the future is probably able to provide direct evidence of pathogenesis of post-stroke spasticity.

  8. Spasticity, an impairment that is poorly defined and poorly measured

    NARCIS (Netherlands)

    Malhotra, S.; Malhotra, S.; Pandyan, A.D.; Day, C.R.; Jones, Valerie M.; Hermens, Hermanus J.

    Objective: To explore, following a literature review, whether there is a consistent definition and a unified assessment framework for the term 'spasticity'. The congruence between the definitions of spasticity and the corresponding methods of measurement were also explored. Data sources: The search

  9. New insights into the pathophysiology of post-stroke spasticity.

    Science.gov (United States)

    Li, Sheng; Francisco, Gerard E

    2015-01-01

    Spasticity is one of many consequences after stroke. It is characterized by a velocity-dependent increase in resistance during passive stretch, resulting from hyperexcitability of the stretch reflex. The underlying mechanism of the hyperexcitable stretch reflex, however, remains poorly understood. Accumulated experimental evidence has supported supraspinal origins of spasticity, likely from an imbalance between descending inhibitory and facilitatory regulation of spinal stretch reflexes secondary to cortical disinhibition after stroke. The excitability of reticulospinal (RST) and vestibulospinal tracts (VSTs) has been assessed in stroke survivors with spasticity using non-invasive indirect measures. There are strong experimental findings that support the RST hyperexcitability as a prominent underlying mechanism of post-stroke spasticity. This mechanism can at least partly account for clinical features associated with spasticity and provide insightful guidance for clinical assessment and management of spasticity. However, the possible role of VST hyperexcitability cannot be ruled out from indirect measures. In vivo measure of individual brainstem nuclei in stroke survivors with spasticity using advanced fMRI techniques in the future is probably able to provide direct evidence of pathogenesis of post-stroke spasticity.

  10. Does calf muscle spasticity contribute to postural imbalance? A study in persons with pure hereditary spastic paraparesis

    NARCIS (Netherlands)

    Niet, M. de; Weerdesteyn, V.G.M.; Bot, S.T. de; Warrenburg, B.P.C. van de; Geurts, A.C.H.

    2013-01-01

    OBJECTIVES: The contribution of spasticity to postural imbalance in patients with upper motor neuron syndrome is still unclear. This study aimed to evaluate the responses to support-surface perturbations in patients with hereditary spastic paraparesis (HSP). These patients typically suffer from

  11. Paraplegia como manifestação inicial de medula presa: relato de caso Paraplegia as initial manifestation of tethered spinal cord: case report

    Directory of Open Access Journals (Sweden)

    ANA GUARDIOLA

    1999-03-01

    Full Text Available A medula presa (MP é entidade pouco frequente que ocorre quando há restrição da migração normal do cone medular por cistos, lipomas ou disrafismos espinhais. Esta patologia pode levar a paraplegia, distúrbios sensoriais e esficterianos. Relatamos o caso de uma menina de 22 meses que consultou com quadro de paraplegia. O diagnóstico de medula presa foi confirmado pela mielotomografia e a paciente foi submetida à cirurgia para liberação do filo terminal.Tethered spinal cord (TSC is a rare disorder; it occurs when the conus medularis is anchored to the base of the vertebral canal by thickened filum terminale cysts, lipoma and spinal dysraphia. This disorder may cause paraplegia, sensory and sphincter disturbance. We report a twenty-two months-old girl presenting with paraplegia. TSC diagnostic was confirmed by myelotomography. The patient was submitted to surgical relief of tethered filum terminale.

  12. Cardiovascular disease risk factors in persons with paraplegia: the Stockholm spinal cord injury study.

    Science.gov (United States)

    Wahman, Kerstin; Nash, Mark S; Westgren, Ninni; Lewis, John E; Seiger, Ake; Levi, Richard

    2010-03-01

    To examine cardiovascular disease risk factors and risk clusters in Swedish persons with traumatic wheelchair-dependent paraplegia. Prospective examination. A total of 135 individuals aged 18-79 years with chronic (>or= 1 year) post-traumatic paraplegia. Cardiovascular disease risk factors; dyslipidemia, impaired fasting glucose, hypertension, overweight, smoking, and medication usage for dyslipidemia, hypertension, and diabetes mellitus, were analyzed according to authoritative guidelines. Stepwise regression tested the effects of age, gender, and injury characteristics on cardiovascular disease risks. High-prevalence risk factors were dyslipidemia (83.1%), hypertension (39.3%), and overweight (42.2%) with pervasive clustering of these risks. Being older was related to increased cardiovascular disease risk, except for dyslipidemia. Hypertension was more common in low-level paraplegia. Prevalence of impaired fasting glucose was lower than previously reported after paraplegia. A high percentage of persons being prescribed drug treatment for dyslipidemia and hypertension failed to reach authoritative targets for cardiovascular disease risk reduction. Swedish persons with paraplegia are at high risk for dyslipidemia, hypertension, and overweight. Impaired fasting glucose was not as common as reported in some previous studies. Pharmacotherapy for dyslipidemia and hypertension often failed to achieve recommended targets. Population-based screening and therapeutic countermeasures to these cardiovascular disease risks are indicated.

  13. Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany.

    Science.gov (United States)

    Orsucci, Daniele; Petrucci, Loredana; Ienco, Elena Caldarazzo; Chico, Lucia; Simi, Paolo; Fogli, Antonella; Baldinotti, Fulvia; Simoncini, Costanza; LoGerfo, Annalisa; Carlesi, Cecilia; Arnoldi, Alessia; Bassi, Maria Teresa; Siciliano, Gabriele; Bonuccelli, Ubaldo; Mancuso, Michelangelo

    2014-05-01

    Hereditary spastic paraparesis or paraplegias (HSPs) are a group of neurogenetic conditions with prominent involvement of the pyramidal tracts. Aim of this study is the clinical and molecular characterization of a cohort of patients with HSP. Moreover, we aim to study the minimum prevalence of HSP in our area and to propose a schematic diagnostic approach to HSP patients based on the available data from the literature. Retrospective/perspective study on the subjects with clinical signs and symptoms indicative of pure or complicated HSP, in whom other possible diagnosis were excluded by appropriate neuroradiological, neurophysiologic and laboratory studies, who have been evaluated by the Neurogenetic Service of our Clinic in last two years (2011-2012). 45 patients were identified. The minimum prevalence of HSP in our area was of about 2.17-3.43/100,000. The SF-36 (quality of life) and SPRS (disease progression) scores were inversely related; the time-saving, four-stage scale of motor disability could predict the SPRS scores with a high statistical significance, and we encourage its use in HSP. Our study confirms SPG4 as the major cause of HSP. All SPG4 patients had a pure HSP phenotype, and the dominant inheritance was evident in the great majority of these subjects. SPG7 was the second genetic cause. Other genotypes were rarer (SPG10, SPG11, SPG17). Exact molecular diagnosis will allow a more accurate patient counseling and, hopefully, will lead to specific, targeted, therapeutic options for these chronic, still incurable diseases. Copyright © 2014. Published by Elsevier B.V.

  14. Quantifying spasticity in individual muscles using shear wave elastography

    Directory of Open Access Journals (Sweden)

    Sarah F. Eby, BS

    2017-06-01

    Full Text Available Spasticity is common following stroke; however, high subject variability and unreliable measurement techniques limit research and treatment advances. Our objective was to investigate the use of shear wave elastography (SWE to characterize the spastic reflex in the biceps brachii during passive elbow extension in an individual with spasticity. The patient was a 42-year-old right-hand-dominant male with history of right middle cerebral artery-distribution ischemic infarction causing spastic left hemiparesis. We compared Fugl-Meyer scores (numerical evaluation of motor function, sensation, motion, and pain, Modified Ashworth scores (most commonly used clinical assessment of spasticity, and SWE measures of bilateral biceps brachii during passive elbow extension. We detected a catch that featured markedly increased stiffness of the brachialis muscle during several trials of the contralateral limb, especially at higher extension velocities. SWE was able to detect velocity-related increases in stiffness with extension of the contralateral limb, likely indicative of the spastic reflex. This study offers optimism that SWE can provide a rapid, real-time, quantitative technique that is readily accessible to clinicians for evaluating spasticity.

  15. Paraplegia after contrast media application: a transient or devastating rare complication? Case report.

    Science.gov (United States)

    Mielke, Dorothee; Kallenberg, Kai; Hartmann, Marius; Rohde, Veit

    2016-05-01

    The authors report the case of a 76-year-old man with a spinal dural arteriovenous fistula. The patient suffered from sudden repeated reversible paraplegia after spinal digital subtraction angiography as well as CT angiography. Neurotoxicity of contrast media (CM) is the most probable cause for this repeated short-lasting paraplegia. Intolerance to toxicity of CM to the vulnerable spinal cord is rare, and probably depends on the individual patient. This phenomenon is transient and can occur after both intraarterial and intravenous CM application.

  16. Gait Trainer for Children with Spastic Cerebral Palsy

    National Research Council Canada - National Science Library

    Urhan, Oguzhan

    2001-01-01

    A device is developed to improve the walking ability of children with Spastic Cerebral Palsy, who have damages to the area of their brain which controls the muscle tone and that causes trouble walking...

  17. What's new in multiple sclerosis spasticity research? Poster session highlights.

    Science.gov (United States)

    Linker, Ralf

    2017-11-01

    Each year at the Multiple Sclerosis Experts Summit, relevant research in the field of multiple sclerosis spasticity is featured in poster sessions. The main studies presented at this year's meeting are summarized herein.

  18. Management of generalized spasticity of lower limbs by selective ...

    African Journals Online (AJOL)

    Wael Fouad

    2011-08-09

    Aug 9, 2011 ... All cases underwent MDT that consisted of a longitudinal incision of the ... The methods of surgical management are classified accord- ... nerves, dorsal roots, dorsal root entry zone or spinal cord.7,8 ... bedridden and totally dependent patient). ... paraplegia of cerebral origin include cerebral palsy, cerebro-.

  19. Spasticity and Its Contribution to Hypertonia in Cerebral Palsy

    Directory of Open Access Journals (Sweden)

    Lynn Bar-On

    2015-01-01

    Full Text Available Spasticity is considered an important neural contributor to muscle hypertonia in children with cerebral palsy (CP. It is most often treated with antispasticity medication, such as Botulinum Toxin-A. However, treatment response is highly variable. Part of this variability may be due to the inability of clinical tests to differentiate between the neural (e.g., spasticity and nonneural (e.g., soft tissue properties contributions to hypertonia, leading to the terms “spasticity” and “hypertonia” often being used interchangeably. Recent advancements in instrumented spasticity assessments offer objective measurement methods for distinction and quantification of hypertonia components. These methods can be applied in clinical settings and their results used to fine-tune and improve treatment. We reviewed current advancements and new insights with respect to quantifying spasticity and its contribution to muscle hypertonia in children with CP. First, we revisit what is known about spasticity in children with CP, including the various definitions and its pathophysiology. Second, we summarize the state of the art on instrumented spasticity assessment in CP and review the parameters developed to quantify the neural and nonneural components of hypertonia. Lastly, the impact these quantitative parameters have on clinical decision-making is considered and recommendations for future clinical and research investigations are discussed.

  20. Effects of a Nintendo Wii exercise program on spasticity and static standing balance in spastic cerebral palsy.

    Science.gov (United States)

    Gatica-Rojas, Valeska; Cartes-Velásquez, Ricardo; Méndez-Rebolledo, Guillermo; Guzman-Muñoz, Eduardo; Lizama, L Eduardo Cofré

    2017-08-01

    This study sought to evaluate the effects of a Nintendo Wii Balance Board (NWBB) intervention on ankle spasticity and static standing balance in young people with spastic cerebral palsy (SCP). Ten children and adolescents (aged 72-204 months) with SCP participated in an exercise program with NWBB. The intervention lasted 6 weeks, 3 sessions per week, 25 minutes for each session. Ankle spasticity was assessed using the Modified Modified Ashworth Scale (MMAS), and static standing balance was quantified using posturographic measures (center-of-pressure [CoP] measures). Pre- and post-intervention measures were compared. Significant decreases of spasticity in the ankle plantar flexor muscles (p balance in young people with SCP.

  1. A rare complication of tuberculosis: Acute paraplegia | Aydın ...

    African Journals Online (AJOL)

    A rare complication of tuberculosis: Acute paraplegia. Teoman Aydın, Özgür Taşpınar, Yasar Keskin, Müge Kepekçi, Meryem Güneşer, Adil Çamlı, Hakan Seyithanoğlu, Huriye Kızıltan, Ali Hikmet Eriş ...

  2. Management of ruptured anterior communicating artery aneurysms presenting with sudden paraplegia

    Directory of Open Access Journals (Sweden)

    Jiu-hong MA

    2016-10-01

    Full Text Available Objective  To explore the causes of ruptured anterior communicating artery aneurysms presenting with paraplegia, and summarize the key points of diagnosis and treatment methods. Methods  A total of 260 patients with ruptured anterior communicating artery aneurysms were received medical treatment in the Department of Neurosurgery, Shanxi Provincial People's Hospital from Jan. 2012 to Mar. 2015. Of which 6 patients were clinically presented with paraplegia, their clinical data including CT/MR/DSA were retrospectively analyzed, and based on the analysis, aneurysm embolization and anti-vasospasm treatment were performed. Results  Besides headache and discomfort in the neck, 5 of the 6 patients were with double lower limbs paraplegia, and the another one presented quadriplegia. By symptomatic treatment of aneurysm embolization and anti vasospasm, the myodynamia of the paraplegic limbs recovered from 0-Ⅰto Ⅳ-Ⅴgrade, and 2 of the 6 patients spent a shorter recovery time (about 2 weeks, the other 4 recovered in 3 months. The limbs myodynamia of the 6 patients recovered completely in half-and one year follow up. Conclusions  The mechanism of ruptured anterior communicating artery aneurysms presenting with paraplegia may be the insufficient blood supply to the primary motor area and supplementary motor area (SMA of brain cortex caused by aneurysms rupture. Aneurysm embolization should be performed in clinical treatment, supplemented with anti vasospasm and symptomatic treatment of improving neurological function. DOI: 10.11855/j.issn.0577-7402.2016.09.14

  3. Increased cardiovascular disease risk in Swedish persons with paraplegia: The Stockholm spinal cord injury study.

    Science.gov (United States)

    Wahman, Kerstin; Nash, Mark S; Lewis, John E; Seiger, Ake; Levi, Richard

    2010-05-01

    Comparison of prevalence of cardiovascular disease risks in persons with chronic traumatic paraplegia with those in the general population. Cross-sectional comparative study. A total of 135 individuals, age range 18-79 years, with chronic (> or = 1 year) traumatic paraplegia. The prevalences of diabetes mellitus, dyslipidaemia, hypertension, overweight, and smoking, were assessed in the study population and were compared with an age- and gender-matched sample of the general population in the region under study. History of myocardial infarction and medication for dyslipidaemia, hypertension, and diabetes mellitus were also recorded. chi2 tests were used to compare the paraplegic cohort with the general population sample. Significantly more persons with paraplegia reported a history of myocardial infarction (5.9%) than those in the comparison group (0.7%). The prevalences of diabetes mellitus (5.9%), dyslipidaemia (11.1%), and hypertension (14.1%) were also significantly higher in the paraplegic group, as were drug treatment for these disorders. Persons with paraplegia report increased prevalences of diabetes mellitus, hypertension, and dyslipidaemia, in particular, compared with the general population. Population-based screening and therapeutic counter-measures for these conditions may therefore be particularly indicated for this patient group.

  4. De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy

    NARCIS (Netherlands)

    Lee, Jae Ran; Srour, Myriam; Kim, Doyoun; Hamdan, Fadi F.; Lim, So Hee; Brunel-Guitton, Catherine; Décarie, Jean Claude; Rossignol, Elsa; Mitchell, Grant A.; Schreiber, Allison; Moran, Rocio; Van Haren, Keith; Richardson, Randal; Nicolai, Joost; Oberndorff, Karin M E J; Wagner, Justin D.; Boycott, Kym M.; Rahikkala, Elisa; Junna, Nella; Tyynismaa, Henna; Cuppen, Inge; Verbeek, Nienke E.; Stumpel, Connie T R M; Willemsen, Michel A.; de Munnik, Sonja A.; Rouleau, Guy A.; Kim, Eunjoon; Kamsteeg, Erik Jan; Kleefstra, Tjitske; Michaud, Jacques L.

    2015-01-01

    KIF1A is a neuron-specific motor protein that plays important roles in cargo transport along neurites. Recessive mutations in KIF1A were previously described in families with spastic paraparesis or sensory and autonomic neuropathy type-2. Here, we report 11 heterozygous de novo missense mutations

  5. [New developments in spastic unilateral cerebral palsy].

    Science.gov (United States)

    Chabrier, S; Roubertie, A; Allard, D; Bonhomme, C; Gautheron, V

    2010-01-01

    Hemiplegic (or spastic unilateral) cerebral palsy accounts for about 30% of all cases of cerebral palsy. With a population prevalence of 0.6 per 1000 live births, it is the most common type of cerebral palsy among term-born children and the second most common type after diplegia among preterm infants. Many types of prenatal and perinatal brain injury can lead to congenital hemiplegia and brain MRI is the most useful tool to classify them with accuracy and to provide early prognostic information. Perinatal arterial ischemic stroke thus appears as the leading cause in term infants, whereas encephalopathy of prematurity is the most common cause in premature babies. Other causes include brain malformations, neonatal sinovenous thrombosis, parenchymal hemorrhage (for example due to coagulopathy or alloimmune thrombocytopenia) and the more recently described familial forms of porencephaly associated with mutations in the COL4A1 gene. In adjunction with pharmacologic treatment (botulinium neurotoxin injection), new evidence-based rehabilitational interventions, such as constraint-induced movement therapy and mirror therapy, are increasingly being used.

  6. Advances in the management of multiple sclerosis symptoms: pathophysiology and assessment of spasticity in multiple sclerosis.

    Science.gov (United States)

    Tintoré, Mar

    2015-01-01

    Spasticity is a prevalent and troublesome symptom for people with multiple sclerosis (MS). Common instruments to measure MS spasticity include the clinician-rated (modified) Ashworth scale and the patient-rated 0-10 spasticity Numerical Rating Scale (NRS). Current opinion is that measurement of MS spasticity should incorporate the patient's perspective. Other instruments to assess spasticity-associated symptoms such as the Penn spasms frequency scale, sleep quality NRS and pain NRS can assist in tracking MS spasticity evolution and inform management choices. Worsening spasticity reduces patient autonomy, impacts negatively on quality of life and increases health resource utilization and costs. Despite the wide range of issues associated with MS spasticity, undertreatment is common and standard treatment options (physiotherapy and classical oral therapies) often fail to provide adequate symptomatic control.

  7. Balneotherapy in treatment of spastic upper limb after stroke.

    Science.gov (United States)

    Erceg-Rukavina, Tatjana; Stefanovski, Mihajlo

    2015-02-01

    After stroke, spasticity is often the main problem that prevents functional recovery. Pain occurs in up to 70% of patients during the first year post-stroke. A total of 70 patients (30 female and 45 male) mean age (65.67) participated in prospective, controlled study. ischaemic stroke, developed spasticity of upper limb, post-stroke interval balneotherapy and inability to follow commands. Experimental group (Ex) (n=35) was treated with sulphurous baths (31°-33°C) and controlled group (Co) with taped water baths, during 21 days. All patients were additionally treated with kinesitherapy and cryotherapy. The outcome was evaluated using Modified Ashworth scale for spasticity and VAS scale for pain. The significance value was sat at pbalneotherapy with sulphurous bath on spasticity and pain in affected upper limb. Reduction in tone of affected upper limb muscles was significant in Ex group (pbalneotherapy with sulphurous water reduces spasticity and pain significantly and can help in treatment of post-stroke patients.

  8. Decreased contribution from afferent feedback to the soleus muscle during walking in patients with spastic stroke

    DEFF Research Database (Denmark)

    Mazzaro, Nazarena; Nielsen, Jørgen Feldbæk; Grey, Michael James

    2007-01-01

    We investigated the contribution of afferent feedback to the soleus (SOL) muscle activity during the stance phase of walking in patients with spastic stroke. A total of 24 patients with hemiparetic spastic stroke and age-matched healthy volunteers participated in the study. A robotic actuator...... by the Ashworth score. These results indicate that although the stretch reflex response is facilitated during spastic gait, the contribution of afferent feedback to the ongoing locomotor SOL activity is depressed in patients with spastic stroke....

  9. Characterization of Spasticity in Cerebral Palsy: Dependence of Catch Angle on Velocity

    Science.gov (United States)

    Wu, Yi-Ning; Ren, Yupeng; Goldsmith, Ashlee; Gaebler, Deborah; Liu, Shu Q.; Zhang, Li-Qun

    2010-01-01

    Aim: To evaluate spasticity under controlled velocities and torques in children with cerebral palsy (CP) using a manual spasticity evaluator. Method: The study involved 10 children with spastic CP (six males, four females; mean age 10y 1mo, SD 2y 9mo, range 7-16y; one with quadriplegia, six with right hemiplegia, three with left hemiplegia; Gross…

  10. WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes.

    Science.gov (United States)

    Jia, Da; Gomez, Timothy S; Metlagel, Zoltan; Umetani, Junko; Otwinowski, Zbyszek; Rosen, Michael K; Billadeau, Daniel D

    2010-06-08

    We recently showed that the Wiskott-Aldrich syndrome protein (WASP) family member, WASH, localizes to endosomal subdomains and regulates endocytic vesicle scission in an Arp2/3-dependent manner. Mechanisms regulating WASH activity are unknown. Here we show that WASH functions in cells within a 500 kDa core complex containing Strumpellin, FAM21, KIAA1033 (SWIP), and CCDC53. Although recombinant WASH is constitutively active toward the Arp2/3 complex, the reconstituted core assembly is inhibited, suggesting that it functions in cells to regulate actin dynamics through WASH. FAM21 interacts directly with CAPZ and inhibits its actin-capping activity. Four of the five core components show distant (approximately 15% amino acid sequence identify) but significant structural homology to components of a complex that negatively regulates the WASP family member, WAVE. Moreover, biochemical and electron microscopic analyses show that the WASH and WAVE complexes are structurally similar. Thus, these two distantly related WASP family members are controlled by analogous structurally related mechanisms. Strumpellin is mutated in the human disease hereditary spastic paraplegia, and its link to WASH suggests that misregulation of actin dynamics on endosomes may play a role in this disorder.

  11. Technologically-advanced assessment of upper-limb spasticity

    DEFF Research Database (Denmark)

    Posteraro, Federico; Crea, Simona; Mazzoleni, Stefano

    2018-01-01

    post stroke patients. METHODS: A new robotic device able to automatically assess upper-limb spasticity during passive and active mobilization has been developed. The elbow spasticity of five post stroke patients has been assessed by using the new device and by means of the Modified Ashworth Scale (MAS......). After the first assessment, subjects were treated with botulin toxin injections, and then underwent 10 sessions of robotic treatments. After the treatment, subjects spasticity was assessed by using the robotic device and the MAS score. RESULTS: In four out of five patients, the botulin toxin injection...... and robotic treatment resulted in the improvement of the MAS score; in three patients the robotic measures were able to detect the MAS changes. In one subject botulin toxin was not effective and the robotic device was able to detect the lack of effectiveness. CONCLUSIONS: By using the robotic device some...

  12. Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia.

    Science.gov (United States)

    Lin, Pengfei; Zhang, Dong; Xu, Guangrun; Yan, Chuanzhu

    2018-04-01

    Spinocerebellar ataxias (SCAs) are a group of autosomal dominant, clinically heterogeneous neurodegenerative disorders. SCA18 is a rare autosomal dominant sensory/motor neuropathy with ataxia (OMIM#607458) associated with a single missense variant c.514 A>G in the interferon related developmental regulator 1 (IFRD1) gene previously reported in a five-generation American family of Irish origin. However, to date, there have been no other reports of the IFRD1 mutation to confirm its role in SCA. Here, we report a Han Chinese family with SCA18; the family members presented with a slowly progressing gait ataxia, pyramidal tract signs, and peripheral neuropathy. We identified a missense variant (c.514 A>G, p.I172V) in IFRD1 gene in the family using targeted next-generation sequencing and Sanger direct sequencing with specific primers. Our results suggest that the IFRD1 gene may be the causative allele for SCA18.

  13. Tilt table standing for reducing spasticity after spinal cord injury.

    Science.gov (United States)

    Bohannon, R W

    1993-10-01

    A patient with a T12 spinal cord injury and intractable extensor spasms of the lower extremities participated in tilt table standing trial on 5 nonconsecutive days to determine if the intervention would affect his spasticity and spasms. Each day's standing trial was followed by an immediate reduction in lower extremity spasticity (measured using the modified Ashworth scale and pendulum testing). Standing was also accompanied by a reduction in spasms that lasted until the following morning. The reduction of spasms was particularly advantageous to the performance of car transfers. Tilt table standing merits further examination as a physical treatment of spasms that accompany central nervous system lesions.

  14. Postoperative Paraplegia as a Result of Undiagnosed Primitive Neuroectodermal Tumor, Not Epidural Analgesia

    Directory of Open Access Journals (Sweden)

    Pei-Ching Hung

    2007-10-01

    Full Text Available Postoperative paraplegia is a rare complication after epidural analgesia and often occurs with spinal hematoma or cord injury. We present the case of a 16-year-old girl who suffered from a tumor mass in the neck and abdomen who underwent gynecologic operation. Preoperatively, liver metastasis was found by computed tomography. Pathologic findings revealed that the abdominal mass was an ovarian dermoid cyst. After the operation, the patient complained of paraplegia while receiving epidural analgesia for postoperative pain control. A peripheral primitive neuroectodermal tumor in the thoracic and lumbar spines with spinal cord compression was later detected using magnetic resonance imaging. Learning from this case, we suggest that when a patient is preoperatively diagnosed with tumor metastasis, back pain and soreness, spinal cord compression from tumor metastasis should be excluded before epidural analgesia is implemented.

  15. Acquired urethral diverticulum in a man with paraplegia presenting with a scrotal mass: a case report

    Directory of Open Access Journals (Sweden)

    El Ammari Jalal Eddine

    2012-11-01

    Full Text Available Abstract Introduction Male urethral diverticula are rare. Patients with paraplegia may present with acquired diverticula as a result of prolonged catheterization. Diverticula may be asymptomatic or lead to lower urinary tract symptoms. Rarely, the diverticulum may initially present as a scrotal mass. Case presentation We report the case of a male 45-year-old Arab with paraplegia who presented with a mass in the peno-scrotal junction. He had in his medical history iterative prolonged urethral catheterizations associated with urine leakage through the urethral meatus upon applying compression. Diagnosis confirmation of urethral diverticula is obtained by retrograde urethrography. The patient underwent a diverticulectomy with urethroplasty. Conclusion Male acquired urethral diverticula can be found in patients who have a spinal cord injury because of prolonged urethral catheterization. Clinical presentations are different and sometimes can be misleading. Retrograde urethrography is the key to diagnosis and open surgery is the treatment of reference.

  16. Relationship Between Hand Contact Angle and Shoulder Loading During Manual Wheelchair Propulsion by Individuals with Paraplegia.

    Science.gov (United States)

    Requejo, Philip Santos; Mulroy, Sara J; Ruparel, Puja; Hatchett, Patricia E; Haubert, Lisa Lighthall; Eberly, Valerie J; Gronley, JoAnne K

    2015-01-01

    Shoulder loading during manual wheelchair propulsion (WCP) contributes to the development of shoulder pain in individuals with spinal cord injury (SCI). To use regression analysis to investigate the relationships between the hand contact angle (location of the hand on the pushrim at initial contact and release during the push phase of the WCP cycle) with propulsion characteristics, pushrim forces, and shoulder kinetics during WCP in individuals with paraplegia. Biomechanical data were collected from 222 individuals (198 men and 24 women) with paraplegia from SCI during WCP on a stationary ergometer at a self-selected speed. The average age of participants was 34.7 years (±9.3), mean time since SCI was 9.3 years (±6.1), and average body weight was 74.4 kg (±15.9). The majority (n = 127; 56%) of participants had lower level paraplegia (T8 to L5) and 95 (42%) had high paraplegia (T2 to T7). Increased push arc (mean = 75.3°) was associated with greater velocity (R = 0.384, P contact angle and hand release angles were equally associated with cycle distance and cadence, whereas a more anterior release angle was associated with greater velocity (R = 0.372, P contact angle was associated with greater posterior shoulder net joint force (R = 0.229, P = .001) and greater flexor net joint moment (R = 0.204, P = .002), whereas a more anterior hand release angle was significantly associated with increased vertical (R = 0.270, P contact and hand release must be considered in WCP training. It is recommended that participants should reach back to initiate contact with the pushrim to maximize push arc but avoid a more anterior hand position at release, because this could increase shoulder load during the push phase of WCP.

  17. Effects of prandial challenge on triglyceridemia, glycemia, and pro-inflammatory activity in persons with chronic paraplegia

    Science.gov (United States)

    Ellenbroek, Dennis; Kressler, Jochen; Cowan, Rachel E.; Burns, Patricia A.; Mendez, Armando J.; Nash, Mark S.

    2015-01-01

    Context/Objective Exaggerated postprandial lipemia has been reported after spinal cord injury (SCI). We examined metabolite and accompanying pro-inflammatory biomarker responses to repeat feeding of typical high-fat meals in individuals with chronic paraplegia. Design Descriptive trial. Methods Metabolites (triglycerides, glucose, and insulin) and inflammatory biomarkers (interleukin-6 and high-sensitivity C-reactive protein (hsCRP)) were measured under fasting conditions in 11 recreationally active individuals with chronic (>1 year) paraplegia. Subjects received high-fat meals at time point 0 and again at minute 240. Antecubital venous blood was obtained at time points −30 (fasting), 0 (first meal), 30, 60, 90, 120, 240 (second meal), 360, and 480 minutes. Correlations were examined among the study variables. Exploratory subgroup analysis was performed for subjects with levels of postprandial glucose greater than >200 mg/dl. Results Triglycerides showed a significant rise 4 hours after eating. Basal inflammatory markers were elevated, and did not undergo additional change during the testing. Additionally, subjects with excessive postprandial glucose responses showed higher hsCRP levels than those having typical glucose responses both for fasting (11.8 ± 6.5 vs. 2.9 ± 2.7 mg/l, P = 0.064) and postprandial (11.1 ± 4.9 vs. 3.7 ± 3.8 mg/l, P = 0.018) values. Conclusions Despite elevations in metabolic response markers, inflammatory markers did not change significantly after consumption of population-representative (i.e. hypercaloric) mixed-nutrient meals. Levels of fasting CRP in the high-risk range are consistent with other reports in persons with SCI and continue to pose concern for their cardiovascular disease risk. The possible association between postprandial metabolic responses and inflammatory states warrants further investigation to identify individual component risks for this secondary health hazard. PMID:24617559

  18. Effects of walkbot gait training on kinematics, kinetics, and clinical gait function in paraplegia and quadriplegia.

    Science.gov (United States)

    Hwang, Jongseok; Shin, Yongil; Park, Ji-Ho; Cha, Young Joo; You, Joshua Sung H

    2018-04-07

    The robotic-assisted gait training (RAGT) system has gained recognition as an innovative, effective paradigm to improve functional ambulation and activities of daily living in spinal cord injury and stroke. However, the effects of the Walkbot robotic-assisted gait training system with a specialized hip-knee-ankle actuator have never been examined in the paraplegia and quadriplegia population. The aim of this study was to determine the long-term effects of Walkbot training on clinical for hips and knee stiffness in individuals with paraplegia or quadriplegia. Nine adults with subacute or chronic paraplegia resulting from spinal cord injury or quadriplegia resulting from cerebral vascular accident (CVA) and/or hypoxia underwent progressive conventional gait retraining combined with the Walkbot RAGT for 5 days/week over an average of 43 sessions for 8 weeks. Clinical outcomes were measured with the Functional Ambulation Category (FAC), Modified Rankin Scale (MRS), Korean version of the Modified Barthel Index (K-MBI), Modified Ashworth Scale (MAS). Kinetic and kinematic data were collected via a built-in Walkbot program. Wilcoxon signed-rank tests showed significant positive intervention effects on K-MBI, maximal hip flexion and extension, maximal knee flexion, active torque in the knee joint, resistive torque, and stiffness in the hip joint (P quadriplegia who had reached a plateau in motor recovery after conventional therapy.

  19. Neuropathic pain and spasticity: intricate consequences of spinal cord injury

    DEFF Research Database (Denmark)

    Finnerup, Nanna Brix

    2017-01-01

    of SCI, and a careful examination and characterization of the symptoms and signs, are a prerequisite for understanding the relationship between neuropathic pain and spasticity and the intricate underlying mechanisms.Spinal Cord advance online publication, 11 July 2017; doi:10.1038/sc.2017.70....

  20. Altered sense of agency in children with spastic cerebral palsy

    DEFF Research Database (Denmark)

    Ritterband-Rosenbaum, Anina; Christensen, Mark S; Kliim-Due, Mette

    2011-01-01

    ABSTRACT: Background Children diagnosed with spastic Cerebral Palsy (CP) often show perceptual and cognitive problems, which may contribute to their functional deficit. Here we investigated if altered ability to determine whether an observed movement is performed by themselves (sense of agency...

  1. Modulation of back geometry in children with spastic diplegic ...

    African Journals Online (AJOL)

    Gehan H. El-Meniawy

    2011-11-29

    Nov 29, 2011 ... disability in childhood and may affect the child on several ... Children with spastic diplegia have significant weakness in ... The Formetric instrument system represents a reliable meth- .... The child was almost always feeling some degree of gentle ..... Growth and Developmental Disorder in Children and its.

  2. Surgical management of spasticity | Enslin | South African Medical ...

    African Journals Online (AJOL)

    The management of patients with cerebral palsy and other causes of spasticity is a challenge to an entire rehabilitation team and to caregivers. In South Africa, neurosurgeons have had limited involvement in this field owing to a perceived lack of options, leaving the care of these patients largely in the hands of paediatric ...

  3. Spastic pelvic floor syndrome: Definition in double-exposure defaecography

    International Nuclear Information System (INIS)

    Helzel, M.V.

    1989-01-01

    Double-exposure defaecography and the so-called pinching test improve conventional defaecography in the diagnosis of functional rectal outlet disorders. In particular, the pinching test makes quantitative evaluation of the m. puborectalis possible. 'Spastic pelvic floor syndrome' is defined by quantitative parameters in double-exposure defaecography and the pinching test. (orig.) [de

  4. A retrospective neurocognitive study in children with spastic diplegia

    NARCIS (Netherlands)

    Pirila, S; van der Meere, J; Korhonen, P; Ruusu-Niemi, P; Kyntaja, M; Nieminen, P; Korpela, R

    2004-01-01

    The study presents the results on neonatal cranial ultrasonography (US) and later intelligence (Wechsler Intelligence Scale-Third Edition and Wechsler Preschool and Primary Scale of Intelligence-Revised) and Neuropsychological assessments of 15 children with spastic diplegia. The assessments were

  5. Validity of Modified Ashworth Scale as a Measure of Wrist Spasticity in Stroke Patients

    Directory of Open Access Journals (Sweden)

    Mohammad Heidari

    2011-04-01

    Full Text Available Objectives: There are some controversies about the value of modified Ashworth Scale (MAS for assessing spasticity. The goal of this study was to investigate if there is any correlation between scores obtained from MAS for wrist spasticity and electrophysiological recordings as the objective measure of spasticity. Methods: In this cross-sectional study, 34 stroke patients were employed. Wrist spasticity was clinically measured by means of MAS. Also, an electromyogram (EMG machine was used to elicit Hmax and Mmax from the flexor carpi radialis muscle. Spearman’s correlation coefficient test was used to investigate potential correlation between clinically and electrophysiologically measures of spasticity. Results: The observed relation between MAS and EMG recordings was not statistically significant (rho=0.183, P>0.05. Discussion: Our findings suggest that MAS may be a useful tool for grading hypertonia, but it is not a valid measure of spasticity in selected patients.

  6. Computed tomographic findings in children with spastic diplegia

    International Nuclear Information System (INIS)

    Yokochi, Kenji; Horie, Masayo; Inukai, Kazuhisa; Kito, Hideyuki; Shimabukuro, Satoshi; Kodama, Kazuo.

    1989-01-01

    Computed tomographic findings of 46 children with spastic diplegia examined at nine months to three years of age corrected for preterm births were analyzed. Both the size of the lateral ventricles measured by the width of the anterior horns, and the volume of the extracerebral low-density areas were enlarged in some patiens. Both enlargements did not, however, correlate to the severity of the motor abnormality in the patients. The low-density areas of the periventricular white matter, especially adjacent to the trigone, were reduced in many children, probably due to the atrophy of the cerebral white matter having periventricular leukomalacia. The anterior expansion of the white matter reduction from the trigone corresponded to the severer motor abnormality in the children with spastic diplegia. (author)

  7. [Surgical treatment of thoracic and lumbar tuberculosis complicated with severe kyphotic deformity and paraplegia].

    Science.gov (United States)

    Hu, Jiang; Wang, Yue; Liu, Zhongqian; Tang, Liuyi; Wan, Lun; Zhang, Yaoming; Deng, Juncai

    2014-09-01

    To explore an method and the effectiveness of surgical treatment of thoracic and lumbar tuberculosis complicated with severe kyphotic deformity (Cobb angle ≥ 55°) and paraplegia. Between January 2009 and January 2013, 13 cases of thoracic and lumbar tuberculosis complicated with severe kyphotic deformity and paraplegia were treated by one-stage posterior vertebral column resection (PVCR), debridement, bone grafting, and instrumentation fixation. Of 13 patients, 7 were male and 6 were female with an average age of 23.5 years (range, 14-49 years). The disease duration was 13-38 months (mean, 19 months). The Cobb angle of kyphosis was (65.23 ± 7.95)°. The visual analogue scale score (VAS) was 7.38 ± 0.31. In 13 patients with incomplete paraplegia, 1 case was classified as Frankel grade B, 7 cases as grade C, and 5 cases as grade D. The lesion involved 2 vertebrae bodies in 7 cases (T8, 9 in 1 case, T11, 12 in 2 cases, and T12, L1 in 4 cases), 3 vertebrae bodies in 4 cases (T10-12 in 2 cases, T9-11 in 1 case, and T11-L1 in 1 case), and 4 vertebrae bodies in 2 cases (T4-7 in 1 case and T6-9 in 1 case). Imaging examination showed paravertebral abscess in 10 cases. Healing of incision by first intention was obtained in all patients. The neurological injury and pulmonary infection occurred in 3 cases and 2 cases respectively, which were cured after symptomatic treatment. Thirteen patients were followed up 12-48 months (mean, 17 months). The erythrocyte sedimentation rate restored to normal level in all cases at 3-7 months after operation. All the patients achieved bony fusion at 10-20 months (mean, 14 months) after operation. No fixation loosening, displacement, or fracture occurred during follow-up. Common toxic symptom of tuberculosis disappeared, and there was no recurrence of local tuberculosis. The Cobb angle of kyphosis was corrected to (22.38 ± 1.76)° at 1 week and (22.15 ± 1.83)° at last follow-up, showing significant difference when compared with

  8. Ocular disorders in children with spastic subtype of cerebral palsy.

    Science.gov (United States)

    Ozturk, A Taylan; Berk, A Tulin; Yaman, Aylin

    2013-01-01

    To document common ocular abnormalities in children with spastic subtype of cerebral palsy (CP) and to find out whether any correlation exists between their occurance and etiologic factors. Totally 194 patients with the diagnosis of spastic type CP were enrolled in this retrospective study. Detailed ophthalmic examinations were performed. Demographic data and neuroradiological findings were documented. Kruskal-Wallis, Mann Whitney U, Pearson Chi-square tests and Student's t tests were used in the statistical analysis. The mean age was 64.7±44.2 months on the first ophthalmic examination. Prevalences of diplegia (47.4%) and tetraplegia (36.1%) were found to be higher than the frequency of hemiplegia (16.5%) in our study population. Etiologic factor was asphyxia in 60.8% of the patients. Abnormal ocular findings were present in 78.9% of the patients. Statistically significant poor vision was detected in tetraplegia group among all the spastic ubtypes of CP (P=0.000). Anisometropia and significant refractive error were found in 14.4% and 70.1% of the patients, respectively. Thirty-six children (18.6%) had nystagmus and 107 children (55.2%) had strabismus. Lower gestational age and birth weight were statistically higher in patients with esotropia than exotropia (P=0.009 and P=0.024, respectively). Abnormal morphology of the optic disc was present in 152 eyes (39.2%). Severe periventricular leukomalacia (PVL) was found in 48 patients and statistically significant poor vision was detected in the presence of PVL (P=0.000). Spastic diplegic or tetraplegic CP patients with positive neuroradiological symptoms, younger gestational age and lower birth weight ought to have detailed ophthalmic examinations as early as possible to provide best visual rehabilitation.

  9. Ocular disorders in children with spastic subtype of cerebral palsy

    Directory of Open Access Journals (Sweden)

    Aylin Yaman

    2013-04-01

    Full Text Available AIM: To document common ocular abnormalities in children with spastic subtype of cerebral palsy (CP and to find out whether any correlation exists between their occurance and etiologic factors. METHODS: Totally 194 patients with the diagnosis of spastic type CP were enrolled in this retrospective study. Detailed ophthalmic examinations were performed. Demographic data and neuroradiological findings were documented. Kruskal-Wallis, Mann Whitney U, Pearson Chi-square tests and Student’s t tests were used in the statistical analysis. RESULTS: The mean age was 64.7±44.2 months on the first ophthalmic examination. Prevalences of diplegia (47.4% and tetraplegia (36.1% were found to be higher than the frequency of hemiplegia (16.5% in our study population. Etiologic factor was asphyxia in 60.8% of the patients. Abnormal ocular findings were present in 78.9% of the patients. Statistically significant poor vision was detected in tetraplegia group among all the spastic ubtypes of CP (P=0.000. Anisometropia and significant refractive error were found in 14.4% and 70.1% of the patients, respectively. Thirty-six children (18.6% had nystagmus and 107 children (55.2% had strabismus. Lower gestational age and birth weight were statistically higher in patients with esotropia than exotropia (P=0.009 and P=0.024, respectively. Abnormal morphology of the optic disc was present in 152 eyes (39.2%. Severe periventricular leukomalacia (PVL was found in 48 patients and statistically significant poor vision was detected in the presence of PVL (P=0.000. CONCLUSION: Spastic diplegic or tetraplegic CP patients with positive neuroradiological symptoms, younger gestational age and lower birth weight ought to have detailed ophthalmic examinations as early as possible to provide best visual rehabilitation.

  10. Clinical experiences with cannabinoids in spasticity management in multiple sclerosis.

    Science.gov (United States)

    Lorente Fernández, L; Monte Boquet, E; Pérez-Miralles, F; Gil Gómez, I; Escutia Roig, M; Boscá Blasco, I; Poveda Andrés, J L; Casanova-Estruch, B

    2014-06-01

    Spasticity is a common symptom among patients with multiple sclerosis (MS). This study aims to assess the effectiveness and safety of the combination of delta-9-tetrahydrocannabinol (THC) and cannabidiol (CBD) in clinical practice for the treatment of spasticity in MS. Retrospective observational study with patients treated with inhaled THC/CBD between April 2008 and March 2012. Descriptive patient and treatment variables were collected. Therapeutic response was evaluated based on the doctor's analysis and overall impression. Of the 56 patients who started treatment with THC/CBD, 6 were excluded because of missing data. We evaluated 50 patients (42% male) with a median age 47.8 years (25.6-76.8); 38% were diagnosed with primary progressive MS, 44% with secondary progressive MS, and 18% with relapsing-remitting MS. The reason for prescribing the drug was spasticity (44%), pain (10%), or both (46%). Treatment was discontinued in 16 patients because of ineffectiveness (7 patients), withdrawal (4), and adverse effects (5). The median exposure time in patients whose treatment was discontinued was 30 days vs 174 days in those whose treatment continued at the end of the study. THC/CBD was effective in 80% of patients at a median dose of 5 (2-10) inhalations/day. The adverse event profile consisted of dizziness (11 patients), somnolence (6), muscle weakness (7), oral discomfort (2), diarrhoea (3), dry mouth (2), blurred vision (2), agitation (1), nausea (1), and paranoid ideation (1). THC/CBD appears to be a good alternative to standard treatment as it improves refractory spasticity in MS and has an acceptable toxicity profile. Copyright © 2013 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  11. Reduction in spasticity in stroke patient with paraffin therapy.

    Science.gov (United States)

    Wang, Jing; Yu, Peng; Zeng, Ming; Gu, Xudong; Liu, Yan; Xiao, Mingyue

    2017-01-01

    The aim of the study was to confirm whether paraffin therapy offer clinical value in the treatment of spasticity due to stroke. Fifty-two patients with spasticity in the upper limb were included. The patients were randomized into the experimental group with paraffin therapy (n = 27) and the control group with placebo therapy (n = 25). The outcome measures besides temperature examination were undertaken at time points of 0 (T0), 2 (T1) and 4 weeks (T2) following therapy treatment. The extent of spasticity was measured using Modified Ashworth Score (MAS) during passive movement at the shoulder, elbow, wrist and finger joints. Visual analogue scale (VAS) was used to evaluate the hemiplegic upper limb pain and functional activity of the upper limb motor function was evaluated by Brunnstrom recovery stage. All adverse events were recorded. MAS decreased significantly in Exp group compared with Con group, at the time points of T1 and T2, both before and immediately after paraffin therapy. Paraffin treatment failed to show remarkable improvement in pain compared with placebo-treated patient at movement at any time point. But VAS in Exp exhibited a tendency to decrease over time in shoulder, elbow, wrist and hand. With regard to the Brunnstrom score, patients in Exp showed significant improvement at the end of trial compared to the beginning. The values of temperature showed significant increment immediately after paraffin therapy at each time point in Exp group. Paraffin therapy may be a kind of noninvasive, promising method to reduce spasticity of stroke patients.

  12. Effects of intermittent theta burst stimulation on spasticity after stroke.

    Science.gov (United States)

    Kim, Dae Hyun; Shin, Ji Cheol; Jung, Seungsoo; Jung, Tae-Min; Kim, Deog Young

    2015-07-08

    Spasticity is a common cause of long-term disability in poststroke hemiplegic patients. We investigated whether intermittent theta burst stimulation (iTBS) could reduce upper-limb spasticity after a stroke. Fifteen hemiplegic stroke patients were recruited for a double-blind sham-controlled cross-over design study. A single session of iTBS or sham stimulation was delivered on the motor hotspot of the affected flexor carpi radialis muscle in a random and counterbalanced order with a 1-week interval. Modified Ashworth scale (MAS), modified Tardieu scale (MTS), H-wave/M-wave amplitude ratio, peak torque (PT), peak torque angle (PTA), work of affected wrist flexor, and rectified integrated electromyographic activity of the flexor carpi radialis muscle were measured before, immediately after, 30 min after, and 1 week after iTBS or sham stimulation. Repeated-measures analysis of variance showed a significant interaction between time and intervention for the MAS, MTS, PT, PTA, and rectified integrated electromyographic activity (PiTBS compared with sham stimulation. However, the H-wave/M-wave amplitude ratio and work were not affected. MAS and MTS significantly improved for at least 30 min after iTBS, but the other parameters only improved immediately after iTBS (PiTBS on the affected hemisphere may help to reduce poststroke spasticity transiently.

  13. Cannabinoids in the management of spasticity associated with multiple sclerosis

    Directory of Open Access Journals (Sweden)

    Anna Maria Malfitano

    2008-08-01

    Full Text Available Anna Maria Malfitano, Maria Chiara Proto, Maurizio BifulcoDipartimento di Scienze Farmaceutiche, Università degli Studi di SalernoAbstract: The endocannabinoid system and cannabinoid-based treatments have been involved in a wide number of diseases. In particular, several studies suggest that cannabinoids and endocannabinoids may have a key role in the pathogenesis and therapy of multiple sclerosis (MS. In this study we highlight the main findings reported in literature about the relevance of cannabinoid drugs in the management and treatment of MS. An increasing body of evidence suggests that cannabinoids have beneficial effects on the symptoms of MS, including spasticity and pain. In this report we focus on the effects of cannabinoids in the relief of spasticity describing the main findings in vivo, in the mouse experimental allergic encephalomyelitis model of MS. We report on the current treatments used to control MS symptoms and the most recent clinical studies based on cannabinoid treatments, although long-term studies are required to establish whether cannabinoids may have a role beyond symptom amelioration in MS.Keywords: cannabinoids, multiple sclerosis, spasticity

  14. The Adverse Effect of Spasticity on 3-Month Poststroke Outcome Using a Population-Based Model

    Directory of Open Access Journals (Sweden)

    S. R. Belagaje

    2014-01-01

    Full Text Available Several devices and medications have been used to address poststroke spasticity. Yet, spasticity’s impact on outcomes remains controversial. Using data from a cohort of 460 ischemic stroke patients, we previously published a validated multivariable regression model for predicting 3-month modified Rankin Score (mRS as an indicator of functional outcome. Here, we tested whether including spasticity improved model fit and estimated the effect spasticity had on the outcome. Spasticity was defined by a positive response to the question “Did you have spasticity following your stroke?” on direct interview at 3 months from stroke onset. Patients who had expired by 90 days (n=30 or did not have spasticity data available (n=102 were excluded. Spasticity affected the 3-month functional status (β=0.420, 95 CI=0.194 to 0.645 after accounting for age, diabetes, leukoaraiosis, and retrospective NIHSS. Using spasticity as a covariable, the model’s R2 changed from 0.599 to 0.622. In our model, the presence of spasticity in the cohort was associated with a worsened 3-month mRS by an average of 0.4 after adjusting for known covariables. This significant adverse effect on functional outcomes adds predictive value beyond previously established factors.

  15. Impact of Spasticity on Balance Control during Quiet Standing in Persons after Stroke

    Directory of Open Access Journals (Sweden)

    Reza Rahimzadeh Khiabani

    2017-01-01

    Full Text Available Background. Balance impairments, falls, and spasticity are common after stroke, but the effect of spasticity on balance control after stroke is not well understood. Methods. In this cross-sectional study, twenty-seven participants with stroke were divided into two groups, based on ankle plantar flexor spasticity level. Fifteen individuals with high spasticity (Modified Ashworth Scale (MAS score of ≥2 and 12 individuals with low spasticity (MAS score <2 completed quiet standing trials with eyes open and closed conditions. Balance control measures included centre of pressure (COP root mean square (RMS, COP velocity, and COP mean power frequency (MPF in anterior-posterior and mediolateral (ML directions. Trunk sway was estimated using a wearable inertial measurement unit to measure trunk angle, trunk velocity, and trunk velocity frequency amplitude in pitch and roll directions. Results. The high spasticity group demonstrated greater ML COP velocity, trunk roll velocity, trunk roll velocity frequency amplitude at 3.7 Hz, and trunk roll velocity frequency amplitude at 4.9 Hz, particularly in the eyes closed condition (spasticity by vision interaction. ML COP MPF was greater in the high spasticity group. Conclusion. Individuals with high spasticity after stroke demonstrated greater impairment of balance control in the frontal plane, which was exacerbated when vision was removed.

  16. Active lower limb orthosis with one degree of freedom for people with paraplegia.

    Science.gov (United States)

    Gloger, Michal; Obinata, Goro; Genda, Eiichi; Babjak, Jan; Pei, Yanling

    2017-07-01

    The main challenges of designing devices for paraplegic walking can be summarized into three groups, stability and comfort, high efficiency or low energy consumption, dimensions and weight. A new economical device for people with paraplegia which tackles all problems of the three groups is introduced in this paper. The main idea of this device is based on HALO mechanism. HALO is compact passive medial hip joint orthosis with contralateral hip and ankle linkage, which keeps the feet always parallel to the ground and assists swinging the leg. The medial hip joint is equipped with one actuator in the new design and the new orthosis is called @halo. Due to this update, we can achieve more stable and smoother walking patterns with decreased energy consumption of the users, yet maintain its compact and lightweight features. It is proven by the results from preliminary experiments with able-bodied subjects during which the same device with and without actuator was evaluated. Waddling and excessive vertical elevation of the center of gravity were decreased by 40% with significantly smaller standard deviations in case of the active orthosis. There was 52% less energy spent by the user wearing @halo which was calculated from the vertical excursion difference. There was measured 38.5% bigger impulse in crutches while using passive orthosis. The new @halo device is the first active orthosis for lower limbs with just one actuated degree of freedom for users with paraplegia.

  17. Intrathecal baclofen pump for spasticity: an evidence-based analysis.

    Science.gov (United States)

    2005-01-01

    To conduct an evidence-based analysis of the effectiveness and cost-effectiveness of intrathecal baclofen for spasticity. Spasticity is a motor disorder characterized by tight or stiff muscles that may interfere with voluntary muscle movements and is a problem for many patients with multiple sclerosis (MS), spinal cord injury (SCI), cerebral palsy (CP), and acquired brain injury (ABI).(1). Increased tone and spasm reduces mobility and independence, and interferes with activities of daily living, continence and sleep patterns. Spasticity may also be associated with significant pain or discomfort (e.g., due to poor fit in braces, footwear, or wheelchairs), skin breakdown, contractures, sleep disorders and difficulty in transfer. Goals of treatment are to decrease spasticity in order to improve range of motion, facilitate movement, reduce energy expenditure and reduce risk of contractures. Existing treatments include physical therapy, oral medications, injections of phenol or botulinum toxin, or surgical intervention. Baclofen is the oral drug most frequently prescribed for spasticity in cases of SCI and MS.(1) Baclofen is a muscle relaxant and antispasticity drug. In the brain, baclofen delivered orally has some supraspinal activity that may contribute to clinical side effects. The main adverse effects of oral baclofen include sedation, excessive weakness, dizziness, mental confusion, and somnolence.(2) The incidence of adverse effects is reported to range from 10% to 75%.(2) Ochs et al. estimated that approximately 25-30% of SCI and MS patients fail to respond to oral baclofen.(3;4) Adverse effects appear to be dose-related and may be minimized by initiating treatment at a low dose and gradually titrating upwards.(2) Adverse effects usually appear at doses >60 mg/day.(2) The rate of treatment discontinuation due to intolerable adverse effects has generally been reported to range from 4% to 27%.(2) When baclofen is administered orally, only a small portion of the

  18. Prevalence and risk factors for epilepsy in children with spastic cerebral palsy

    Directory of Open Access Journals (Sweden)

    Dedy Rahmat

    2010-03-01

    Conclusions The prevalence of epilepsy in spastic CP is 39%. The risk factors for epilepsy in spastic CP are post central nervous system infection, and ocurrence of seizure in the first year of life. [Paediatr Indones. 2010;50:11-7].

  19. Spinal Cord Stimulation for Spasticity: Historical Approaches, Current Status, and Future Directions.

    Science.gov (United States)

    Nagel, Sean J; Wilson, Saul; Johnson, Michael D; Machado, Andre; Frizon, Leonardo; Chardon, Matthieu K; Reddy, Chandan G; Gillies, George T; Howard, Matthew A

    2017-06-01

    Millions of people worldwide suffer with spasticity related to irreversible damage to the brain or spinal cord. Typical antecedent events include stroke, traumatic brain injury, and spinal cord injury, although insidious onset is also common. Regardless of the cause, the resulting spasticity leads to years of disability and reduced quality of life. Many treatments are available to manage spasticity; yet each is fraught with drawbacks including incomplete response, high cost, limited duration, dose-limiting side effects, and periodic maintenance. Spinal cord stimulation (SCS), a once promising therapy for spasticity, has largely been relegated to permanent experimental status. In this review, our goal is to document and critique the history and assess the development of SCS as a treatment of lower limb spasticity. By incorporating recent discoveries with the insights gained from the early pioneers in this field, we intend to lay the groundwork needed to propose testable hypotheses for future studies. SCS has been tested in over 25 different conditions since a potentially beneficial effect was first reported in 1973. However, the lack of a fully formed understanding of the pathophysiology of spasticity, archaic study methodology, and the early technological limitations of implantable hardware limit the validity of many studies. SCS offers a measure of control for spasticity that cannot be duplicated with other interventions. With improved energy-source miniaturization, tailored control algorithms, novel implant design, and a clearer picture of the pathophysiology of spasticity, we are poised to reintroduce and test SCS in this population. © 2017 International Neuromodulation Society.

  20. Effect of whole-body vibration on muscle strength, spasticity, and ...

    African Journals Online (AJOL)

    CP) and is characterized by spasticity and muscle weakness of both lower limbs resulting in decreased walking ability. The purpose of this study was to evaluate the effect of whole body vibration (WBV) training on muscle strength, spasticity, and ...

  1. Clinical assessment of spasticity in children with cerebral palsy: a critical review of available instruments

    NARCIS (Netherlands)

    Scholtes, Vanessa A. B.; Becher, Jules G.; Beelen, Anita; Lankhorst, Gustaaf J.

    2006-01-01

    This study reviews the instruments used for the clinical assessment of spasticity in children with cerebral palsy, and evaluates their compliance with the concept of spasticity, defined as a velocity-dependent increase in muscle tone to passive stretch. Searches were performed in Medline, Embase,

  2. Intrathecal baclofen therapy in children with intractable spastic cerebral palsy: a cost-effectiveness analysis

    NARCIS (Netherlands)

    Hoving, M.A.; Evers, S.M.A.A.; Ament, A.J.H.A.; van Raak, E.P.M.; Becher, J.G.; Rotteveel, J.; Vles, J.S.H.

    2008-01-01

    In a Dutch national study, we recently established the effectiveness and safety of continuous intrathecal baclofen infusion (CITB) in children with intractable spastic cerebral palsy (CP). Because prospective studies on the cost-effectiveness of CITB in children with spastic CP are lacking, we

  3. Intrathecal baclofen therapy in children with intractable spastic cerebral palsy: a cost-effectiveness analysis.

    NARCIS (Netherlands)

    Hoving, M.A.; Evers, S.M.; Ament, A.J.; Raak, E.P. van; Vles, J.S.; Becher, J.G.; Vermeulen, R.; Brouwer, O.F.; Maathuis, C.G.B.; Catsman-Berrevoets, C.E.; Gerritsen, J.; Geerts, M.J.; Jongerius, P.H.; Nieuwenhuizen, O.F.; Rotteveel, J.J.; Speth, L.A.; Stroink, H.; Ziel, E.G. van der

    2008-01-01

    In a Dutch national study, we recently established the effectiveness and safety of continuous intrathecal baclofen infusion (CITB) in children with intractable spastic cerebral palsy (CP). Because prospective studies on the cost-effectiveness of CITB in children with spastic CP are lacking, we

  4. Botulinum therapy for poststroke spasticity of the lower extremity (clinical cases

    Directory of Open Access Journals (Sweden)

    L. V. Krylova

    2014-01-01

    Full Text Available The paper deals with the topical problem – the medical rehabilitation of patients with poststroke spasticity. It describes clinical cases of patients with poststroke spasticity of the upper and lower extremities who have received combined therapy using botulinum toxin type A (Botox injections.

  5. Hindlimb spasticity after unilateral motor cortex lesion in rats is reduced by contralateral nerve root transfer.

    Science.gov (United States)

    Zong, Haiyang; Ma, Fenfen; Zhang, Laiyin; Lu, Huiping; Gong, Jingru; Cai, Min; Lin, Haodong; Zhu, Yizhun; Hou, Chunlin

    2016-12-01

    Lower extremity spasticity is a common sequela among patients with acquired brain injury. The optimum treatment remains controversial. The aim of our study was to test the feasibility and effectiveness of contralateral nerve root transfer in reducing post stroke spasticity of the affected hindlimb muscles in rats. In our study, we for the first time created a novel animal hindlimb spastic hemiplegia model in rats with photothrombotic lesion of unilateral motor cortex and we established a novel surgical procedure in reducing motor cortex lesion-induced hindlimb spastic hemiplegia in rats. Thirty six rats were randomized into three groups. In group A, rats received sham operation. In group B, rats underwent unilateral hindlimb motor cortex lesion. In group C, rats underwent unilateral hindlimb cortex lesion followed by contralateral L4 ventral root transfer to L5 ventral root of the affected side. Footprint analysis, Hoffmann reflex (H-reflex), cholera toxin subunit B (CTB) retrograde tracing of gastrocnemius muscle (GM) motoneurons and immunofluorescent staining of vesicle glutamate transporter 1 (VGLUT1) on CTB-labelled motoneurons were used to assess spasticity of the affected hindlimb. Sixteen weeks postoperatively, toe spread and stride length recovered significantly in group C compared with group B (Pmotor cortex lesion-induced hindlimb spasticity in rats. Our data indicated that this could be an alternative treatment for unilateral lower extremity spasticity after brain injury. Therefore, contralateral neurotization may exert a potential therapeutic candidate to improve the function of lower extremity in patients with spastic hemiplegia. © 2016 The Author(s).

  6. Neural tension technique is no different from random passive movements in reducing spasticity in patients with traumatic brain injury

    DEFF Research Database (Denmark)

    Lorentzen, Jakob; Nielsen, Dorthe; Holm, Karl

    2012-01-01

    Purpose: Neural tension technique (NTT) is a therapy believed to reduce spasticity and to increase range of motion (ROM). This study compared the ability of NTT and random passive movements (RPMs) to reduce spasticity in the knee flexors in 10 spastic patients with brain injury. Methods: An RCT...

  7. Procedure Oriented Torsional Anatomy of the Forearm for Spasticity Injection.

    Science.gov (United States)

    Chiou-Tan, Faye; Cianca, John; John, Joslyn; Furr-Stimming, Erin; Pandit, Sindhu; Taber, Katherine H

    2015-01-01

    : This is the second in a series of articles related to the concept of "torsional" anatomy. The objective of this article is to provide musculoskeletal ultrasound (MSKUS) anatomy of the forearm in the position of hemispastic flexion as a reference relevant to needle procedures. The MSKUS images were obtained in a healthy human subject. Marker dots were placed over common injection sites in the forearm for spasticity. The MSKUS probe was centered over each dot to obtain a cross-sectional view. A pair of MSKUS images was recorded for each site: the first in anatomic neutral and second in hemiparetic spastic position. The images were compared side to side. In addition, a video recording was made at each site to track the movement of the muscles and nerves during internal rotation. The pronator teres (PT) rotated medially and the brachialis and biceps tendon rotated in view. In addition, the median nerve became more superficial. The flexor carpi radialis rotated medially and was replaced by PT and the median nerve. The flexor carpi ulnaris and flexor digitorum profundus rotated medially and were replaced by the flexor carpi radialis, PT and median nerve. The flexor digitorum superficialis was replaced by the brachioradialis, extensor carpi radialis brevis, and radial nerve. The brachioradialis was replaced by the extensor carpi radialis brevis and extensor digitorum communis. Intended muscle targets rotate out of view and injection range. These are replaced by other muscles and nerves that could inadvertently be injected. This potentially could result in both increased complications and decreased efficacy of the procedure. It is hoped that this series of images will increase the accuracy and safety of needle placement for spasticity injections in the forearm.

  8. Four-fold increase in direct costs of stroke survivors with spasticity compared with stroke survivors without spasticity: the first year after the event.

    Science.gov (United States)

    Lundström, Erik; Smits, Anja; Borg, Jörgen; Terént, Andreas

    2010-02-01

    The prevalence of spasticity after first-ever stroke is approximately 20%, but there are no health economic studies on costs associated with spasticity after stroke. The objective of our study was to estimate direct costs of stroke with spasticity for patients surviving up to 1 year after the stroke event in comparison to costs of stroke without spasticity. A representative sample of patients with first-ever stroke hospitalized at Uppsala University Hospital was eligible for our cross-sectional survey. All direct costs during 1 year were identified for each patient, including costs for hospitalization (acute and rehabilitation), primary health care, medication, and costs for municipality services. Swedish currency was converted to Purchasing Power Parities US dollar (PPP$). Median age (interquartile range) was 73 years (18), and the proportion of women was 48%. The majority of the direct costs (78%) was associated with hospitalization, whereas 20% was associated with municipality services during 1 year after a first-ever stroke. Only 1% of all direct costs were related to primary health care and 1% to medication. The level of costs for patients with stroke was correlated with the presence of spasticity as measured with the modified Ashworth scale (r(s)=0.524) and with the degree of disability as measured with modified Rankin Scale (r(s)=0.624). The mean (median, interquartile range) direct cost for stroke patients with spasticity was PPP$ 84,195 (72,116, 53,707) compared with PPP$ 21,842 (12,385, 17,484) for patients with stroke without spasticity (Pstroke survivors are 4 times higher than direct costs for patients with stroke without spasticity during the first year after the event.

  9. Neuromuscular properties of different spastic human joints vary systematically.

    Science.gov (United States)

    Mirbagheri, M M; Settle, K

    2010-01-01

    We quantified the mechanical abnormalities of the spastic wrist in chronic stroke survivors, and determined whether these findings were representative of those recorded at the elbow and ankle joints. System identification techniques were used to characterize the mechanical abnormalities of these joints and to identify the contribution of intrinsic and reflex stiffness to these abnormalities. Modulation of intrinsic and reflex stiffness with the joint angle was studied by applying PRBS perturbations to the joints at different joint angles over the range of motion. Age-matched healthy subjects were used as control.

  10. The meaning of spasticity to people with multiple sclerosis: what can health professionals learn?

    Science.gov (United States)

    Morley, Alex; Tod, Angela; Cramp, Mary; Mawson, Sue

    2013-07-01

    Multiple sclerosis (MS) is the most common disabling neurological condition affecting young adults. One third of people on an American registry of people with MS (PWMS) reported having activities affected by spasticity. The psychosocial effects of spasticity in people with MS have been shown to be distressing and detrimental to emotional and social relationships when investigated from a psychology perspective. This paper investigates the impact of spasticity on the lives of people living with MS from a physiotherapeutic perspective. This study involved 12 semi-structured interviews with individuals experiencing MS-related spasticity. Ten sets of data were analyzed following framework analysis principles. Results suggest spasticity effects life experience of these PWMS in diverse and complex ways. Physical, psychological and social consequences of spasticity are closely linked and can be far reaching. Therapists need to be aware of links between specific physical symptoms and their psychosocial consequences if they want to improve peoples' quality of life. This paper provides in depth qualitative research evidence for the complexity of the spasticity experience for each individual, strengthening the argument for a patient-centred approach to treatment. These results also support the case for targeted interventions with effectiveness recorded in a patient-centred way. • Spasticity is suggested here to affect the lives of individuals with multiple sclerosis in diverse and far reaching ways. Therapists need to investigate this fully in subjective assessment to impact on people's quality of life. • Direct links were identified between treatable physical symptoms and far reaching consequences of spasticity. • Knowledge about the complexity of the spasticity experience for each individual will allow therapists to target interventions appropriately and accurately record effectiveness in a patient-centred way.

  11. Functional Brain Correlates of Upper Limb Spasticity and Its Mitigation following Rehabilitation in Chronic Stroke Survivors

    Directory of Open Access Journals (Sweden)

    Svetlana Pundik

    2014-01-01

    Full Text Available Background. Arm spasticity is a challenge in the care of chronic stroke survivors with motor deficits. In order to advance spasticity treatments, a better understanding of the mechanism of spasticity-related neuroplasticity is needed. Objective. To investigate brain function correlates of spasticity in chronic stroke and to identify specific regional functional brain changes related to rehabilitation-induced mitigation of spasticity. Methods. 23 stroke survivors (>6 months were treated with an arm motor learning and spasticity therapy (5 d/wk for 12 weeks. Outcome measures included Modified Ashworth scale, sensory tests, and functional magnetic resonance imaging (fMRI for wrist and hand movement. Results. First, at baseline, greater spasticity correlated with poorer motor function (P=0.001 and greater sensory deficits (P=0.003. Second, rehabilitation produced improvement in upper limb spasticity and motor function (P<0.0001. Third, at baseline, greater spasticity correlated with higher fMRI activation in the ipsilesional thalamus (rho=0.49, P=0.03. Fourth, following rehabilitation, greater mitigation of spasticity correlated with enhanced fMRI activation in the contralesional primary motor (r=-0.755, P=0.003, premotor (r=−0.565, P=0.04, primary sensory (r=−0.614, P=0.03, and associative sensory (r=−0.597, P=0.03 regions while controlling for changes in motor function. Conclusions. Contralesional motor regions may contribute to restoring control of muscle tone in chronic stroke.

  12. Tropical spastic paraparesis and HTLV-1 associated myelopathy: clinical, epidemiological, virological and therapeutic aspects.

    Science.gov (United States)

    Gessain, A; Mahieux, R

    2012-03-01

    In 1980, Human T cell leukemia/lymphoma virus type 1 (HTLV-1) was the first oncogenic human retrovirus to be discovered. HTLV-1 belongs to the Retroviridae family, the Orthoretrovirinae subfamily and to the deltaretrovirus genus. HTLV-1 preferentially infects CD4(+) lymphoid cells in vivo. Three molecules have been identified for binding and/or entry of HTLV-1: heparan sulfate proteoglycans, neuropilin-1, and glucose transporter 1. An efficient transfer of the virus from an infected cell to a target cell can occur through the formation of a viral synapse and/or by virofilm structure. As for all retroviruses, HTLV-1 genome possesses three major ORFs (gag, pol and env) encoding the structural and enzymatic proteins. HTLV-1 encodes also some regulatory and auxillary proteins including the tax protein with transforming activities and the HBZ protein which plays a role in the proliferation and maintenance of the leukemic cells. HTLV-1 is present throughout the world with clusters of high endemicity including mainly Southern Japan, the Caribbean region, areas in South America and in intertropical Africa. The worldwide HTLV-1 infected population is estimated to be around 10-20 million. HTLV-1 has three modes of transmission: (1): mother to child, mainly linked to prolonged breast-feeding; (2): sexual, mainly occurring from male to female and (3): contaminated blood products. HTLV-1 possesses a remarkable genetic stability. HTLV-1 is the etiological agent of mainly two severe diseases: a malignant T CD4(+) cell lymphoproliferation, of very poor prognosis, named Adult T cell Leukemia/Lymphoma (ATLL), and a chronic neuro-myelopathy named Tropical spastic paraparesis/HTLV-1 Associated Myelopathy (TSP/HAM). The lifetime risk among HTLV-1 carriers is estimated to be around 0.25 to 3%. TSP/HAM mainly occurs in adults, with a mean age at onset of 40-50 years and it is more common in women than in men. Blood transfusion is a major risk factor for TSP/HAM development. Clinically

  13. Association between spasticity and the level of motor function with quality of life in community dwelling Iranian young adults with spastic cerebral palsy

    Directory of Open Access Journals (Sweden)

    Nasrin Salehi Dehno

    2012-11-01

    Full Text Available  Abstract Background: Consequences of cerebral palsy in adulthood can affect physical, psychological capabilities and quality of life. The purpose of this study was to investigate the relationship between quality of life with spasticity and level of motor function in Iranian young adults with spastic cerebral palsy who were community dweller. Methods: In an analytical cross sectional study, 77 participants with spastic cerebral palsy (44 women، 33 men with age range of 20 to 40 years; (mean age 26.19±5 yr took part in this study. They were enrolled from three Raad Rehabilitation Goodwill complexes in Tehran and Karaj cities. All subjects were recruited through convenient sampling. Severity of Spasticity for knee flexors was measured with Modified Tardieu Scale. In addition, the level of motor function, and quality of life were assessed respectively through Gross Motor Function Classification System and World Health Organization Quality of life questionnaire (WHOQOL- BREF. To analyze data, Pearson and spearman correlation coefficient was used. Results: No correlation found between quality of life with knee flexor muscles spasticity and level of motor function (p> 0.05. Conclusion: Quality of life as a multi dimensional concept has been impacted by many factors such as physical status, environmental issues and culture. Possibly, severity of spasticity and level of function have a less pronounced effect on quality of life in community dwelling adults with cerebral palsy. 

  14. Acute toxemic schistosomiasis complicated by a acute flaccid paraplegia due to schistosomal myeloradiculopathy in Sudan

    Energy Technology Data Exchange (ETDEWEB)

    Ahmed, Abdelmonim F [Dept. of Medicine, Faculty of Medicine, Taibah Univ., Al-Madinah Al-Munwarah (Saudi Arabia); Kareem, Abid M [Dept. of Gastroenterology, King Fahd Hospital, Al- Madinah Al-Munwarah (Saudi Arabia); Dawoud, Talal A [Dept. of Neurology, King Fahd Hospital, Al-Madinah Al-Munawarh (Saudi Arabia); Idris, Abdelrehman S [Dept. of Neurology, Hiraa Hospital, Mecca (Saudi Arabia)

    2008-07-01

    A 55-year old Sudanese physician presented with one month history of diarrhea, loss of weight 10 kg and low grade nocturnal fever. Following colonoscopy, he rapidly developed paraparesis and retention of urine. Magnetic resonance imaging (MRI) of the spinal cord showed low cord lesion suggestive of transverse myelitis. We present a detailed account of diagnostic and management challenges and a literature review of the final diagnosis of acute toxemic schistosomiasis, complicated by acute flaccid paraplegia due to schistosomal myeloradiculopathy. We are reporting this case to increase the awareness of physicians of schistosomal myeloradiculopathy, as it needs urgent specific treatment praziquantel and steroids. An early follow-up with MRI of the spinal cord 2 weeks treatment may help in preventing unnecessary neurosurgical intervention. Bilharziasis may be contracted on the banks of river White Nile in urban areas. Finally clinicians should make use of the Google search for diagnosis in difficult cases. (author)

  15. Acute toxemic schistosomiasis complicated by a acute flaccid paraplegia due to schistosomal myeloradiculopathy in Sudan

    International Nuclear Information System (INIS)

    Ahmed, Abdelmonim F.; Kareem, Abid M.; Dawoud, Talal A.; Idris, Abdelrehman S.

    2008-01-01

    A 55-year old Sudanese physician presented with one month history of diarrhea, loss of weight 10 kg and low grade nocturnal fever. Following colonoscopy, he rapidly developed paraparesis and retention of urine. Magnetic resonance imaging (MRI) of the spinal cord showed low cord lesion suggestive of transverse myelitis. We present a detailed account of diagnostic and management challenges and a literature review of the final diagnosis of acute toxemic schistosomiasis, complicated by acute flaccid paraplegia due to schistosomal myeloradiculopathy. We are reporting this case to increase the awareness of physicians of schistosomal myeloradiculopathy, as it needs urgent specific treatment praziquantel and steroids. An early follow-up with MRI of the spinal cord 2 weeks treatment may help in preventing unnecessary neurosurgical intervention. Bilharziasis may be contracted on the banks of river White Nile in urban areas. Finally clinicians should make use of the Google search for diagnosis in difficult cases. (author)

  16. Effect the exercise program on neuropathic pain intensity in patients with paraplegia Spinal Cord Injury

    Directory of Open Access Journals (Sweden)

    Sedghi Goyaghaj N

    2015-11-01

    Full Text Available Background and Objective: Patients with spinal cord injury suffer from continuous and persistent neuropathic pain that has a destructive impact on their quality of life. Exercise therapy is one of the non-pharmacological interventions that is recommended to control chronic pain, This study aimed to determine the effect of exercise program on neuropathic pain intensity in patients with paraplegia Spinal Cord Injury. Materials and Method: This study is a clinical trial.that population was the all of the patients with spinal cord injury, who referred to one of the educational hospitals in Tehran in 2014, 40 patient were selected based on purposive sampling and were randomly allocated into two groups of experimental and control. Exercise program for paraplegia spinal cord injury was implemented in experimental group during twelve 45-60minutes sessions, twice a week. Data collection was done before and one week after the intervention through using personal information form and, The International Spinal Cord Injury Pain Basic Data Set. Data were analyzed with statistical software SPSS19 and Fisher's exact test, Independent samples T-test Paired T-test and Chi square. Results: The mean score of neuropathic pain intensity before the intervention was 8.05 ± 1.51 in intervention group and 7.57 ± 1.21 in the control group. These amounts after the intervention were 5.55 ± 1.61 and 7.37 ± 1.05 respectively (p < 0.001. Conclusion: Results showed that the regular exercise program can reduce neuropathic pain severity in patients with spinal cord injuries and it can be recommended as a non-pharmacological method of pain control in these patients.

  17. Car transfer and wheelchair loading techniques in independent drivers with paraplegia

    Directory of Open Access Journals (Sweden)

    Lisa Lighthall Haubert

    2015-09-01

    Full Text Available Car transfers and wheelchair (WC loading are crucial for independent community participation in persons with complete paraplegia from spinal cord injury, but are complex, physically demanding, and known to provoke shoulder pain. This study aimed to describe techniques and factors influencing car transfer and WC loading for individuals with paraplegia driving their own vehicles and using their personal WCs. Sedans were the most common vehicle driven (59%. Just over half (52% of drivers place their right leg only into the vehicle prior to transfer. Overall, the leading hand was most frequently placed on the driver’s seat (66% prior to transfer and the trailing hand was most often place on the WC seat (48%. Vehicle height influenced leading hand placement but not leg placement such that driver’s of higher profile vehicles were more likely to place their hand on the driver’s seat than those who drove sedans. Body lift time was negatively correlated with level of injury and age and positively correlated with vehicle height and shoulder abduction strength. Drivers who transferred with their leading hand on the steering wheel had significantly higher levels of shoulder pain than those who placed their hand on the driver’s seat or overhead. The majority of participants used both hands (62% to load their WC frame and, overall, most loaded their fame into the back (62% vs. the front seat. Sedan drivers were more likely to load their frame into the front seat than drivers of higher profile vehicles (53% vs. 17%. Average time to load the WC frame (10.7 seconds was 20% of the total WC loading time and was not related to shoulder strength, frame weight or demographic characteristics. Those who loaded their WC frame into the back seat had significantly weaker right shoulder internal rotators. Understanding car transfers and WC loading in independent drivers is crucial to prevent shoulder pain and injury and preserve community participation.

  18. Speech Respiratory Measures in Spastic Cerebral Palsied and Normal Children

    Directory of Open Access Journals (Sweden)

    Hashem Shemshadi

    2007-10-01

    Full Text Available Objective: Research is designed to determine speech respiratory measures in spastic cerebral palsied children versus normal ones, to be used as an applicable tool in speech therapy plans.  Materials & Methods: Via a comparative cross-sectional study (case–control, and through a directive goal oriented sampling in case and convenience approach for controls twenty spastic cerebral palsied and twenty control ones with age (5-12 years old and sex (F=20, M=20 were matched and identified. All possible inclusion and exclusion criteria were considered by thorough past medical, clinical and para clinical such as chest X-ray and Complete Blood Counts reviews to rule out any possible pulmonary and/or systemic disorders. Their speech respiratory indices were determined by Respirometer (ST 1-dysphonia, made and normalized by Glasgow University. Obtained data were analyzed by independent T test. Results: There were significant differences between cases and control groups for "mean tidal volume", "phonatory volume" and "vital capacity" at a=0/05 values and these values in patients were less (34% than normal children (P<0/001. Conclusion: Measures obtained are highly crucial for speech therapist in any speech therapy primary rehabilitative plans for spactic cerebral palsied children.

  19. The use of hydrotherapy for the management of spasticity.

    Science.gov (United States)

    Kesiktas, N; Paker, N; Erdogan, N; Gülsen, G; Biçki, D; Yilmaz, H

    2004-12-01

    Spasticity is a major problem for the rehabilitation team. Physiotherapy is a vital component of therapy. Oral medication and other modalities such as heat, cold, ultrasound, electrical stimulation, and surgery (neuro-surgical or orthopedic) can also be used. The aim of this study was to compare the effects of hydrotherapy on spasticity and Functional Independence Measure (FIM) scores of patients with spinal cord injury (SCI). This is a control case matched study. Twenty SCI patients were divided into 2 groups and matched for age, gender, injury time, Ashworth scores, oral baclofen intake, American Spinal Injury Association, and FIM scores. The control group received passive range of motion exercise twice a day and oral baclofen for 10 weeks. The study group also received passive range of motion and oral baclofen, as well as 20 min of water exercises (at 71 degrees F, full immersion) 3 times per week. The authors evaluated spasm severity, FIM scores, oral baclofen intake, and Ashworth scales, between groups at the beginning and at the end of the treatment period. Both groups demonstrated a significant increase in FIM scores. However, the hydrotherapy group demonstrated a larger increase (P hydrotherapy group (P hydrotherapy produced a significant decrease in spasm severity (P hydrotherapy to the rehabilitation program can be helpful in decreasing the amount of medication required. Future studies must evaluate benefits of hydrotherapy for rehabilitation.

  20. The Efficacy of Botulinum Toxin A Intramuscular Injections in After-Stroke Spasticity

    Directory of Open Access Journals (Sweden)

    Melek Karaçam

    2010-09-01

    Full Text Available OBJECTIVE: Spasticity is a common dysfunction in stroke patients. It hinders the performance of everyday living activities and lowers the quality of life. In this study, it was aimed to investigate the effects of botulinum toxin A therapy on various aspects, such as muscle tone, pain, daily living activities and disability. METHODS: Fifteen patients with stroke presenting with focal spasticity in the botulinum toxin outpatient unit were evaluated. Results before and after treatment were evaluated by applying different scales. Modified Ashworth Scale was applied for the severity of spasticity. The Medical Council Research Scale was used to test muscle power, and the disability scoring scale, Visual Analogue Pain Scale and Barthel index were the other measures tested. RESULTS: It was found that therapy with botulinum toxin A was effective in spasticity. The increased muscle tone and the disability scores decreased prominently after the treatment (p< 0.05. Lower values in pain scores (p< 0.05 also contributed to better functional outcome (p< 0.01. Along with the significantly good outcome according to the scales, the higher scores in quality of life, feeling of well-being, good performance during the physiotherapy sessions, and less medications needed for spasticity were also indications in commencing the therapy of botulinum toxin A in spasticity. CONCLUSION: Spasticity is a complicated condition causing serious disability. Botulinum toxin A is a preferred therapy when there is an increased motor activity. The effects of the agent are reversible and reliable. The duration of the treatment is long-lasting. Since botulinum toxin A is easily applied and the outcome in focal spasticity is favorable, it is recommended as the first-line choice in the treatment of focal spasticity

  1. Lipid myopathy associated with renal tubular acidosis and spastic diplegia in two brothers.

    Science.gov (United States)

    Tung, Y C; Tsau, Y K; Chu, L W; Young, C; Shen, Y Z

    2001-07-01

    Lipid myopathy is a group of disorders involving mitochondrial fatty acid oxidation. We describe two brothers, 3 years 8 months old and 2 years 9 months old, respectively, with progressive spastic diplegia, developmental delay, failure to thrive, and chronic metabolic acidosis who had lipid myopathy and renal tubular acidosis. Brain magnetic resonance imaging revealed demyelinating changes in the periventricular white matter, which was compatible with spastic diplegia. These symptoms may be related to errors in fatty acid metabolism. Cerebral palsy had been misdiagnosed in both of these patients at another hospital. Therefore, for patients with late-onset and progressive spastic diplegia, detailed investigations for underlying diseases are warranted.

  2. Percutaneous epidural neurostimulation in modulation of paraplegic spasticity. Six case reports.

    Science.gov (United States)

    Richardson, R R; Cerullo, L J; McLone, D G; Gutierrez, F A; Lewis, V

    1979-01-01

    Six cases of paraplegic, post-traumatic spasticity, alleviated by percutaneous epidural neurostimulation with temporary or permanent implanted neuroelectrodes from the L1 to L4 intervertebral levels are presented. Modulation of this spasticity and secondary beneficial physiological effects were achieved, including regulation of bowel regimens, production of sweating and piloerection below the level of the lesion, and morning erections. The main advantages of percutaneous epidural neurostimulation in modulating spasticity are the avoidance of destructive neurosurgical procedures, the regulation of secondary physiological and autonomic responses, the avoidance of antispasticity medications, and the reversibility of the neurostimulation procedure.

  3. SACS gene-related autosomal recessive spastic ataxia of Charlevoix-Saguenay from South India

    Directory of Open Access Journals (Sweden)

    M Suraj Menon

    2016-01-01

    Full Text Available Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS is a neurodegenerative disorder characterized by late infantile onset spastic ataxia and other neurological features. Initially described in the Charlevoix-Saguenay region of Quebec, Canada, it is being increasingly reported from many other countries. Here, we present the case of a 20-year-old male from South India, who presented with progressive ataxia, spasticity, and peripheral neuropathy with imaging features and genetic testing suggestive of SACS gene-related ARSACS. The phenotypic variability from other cases and occurrence in a geographically distinct region is stressed upon to alert the clinicians to consider ARSACS in progressive ataxias.

  4. [Risk factors for the development of rotator cuff tears in individuals with paraplegia : A cross-sectional study].

    Science.gov (United States)

    Pepke, W; Brunner, M; Abel, R; Almansour, H; Gerner, H J; Hug, A; Zeifang, F; Kentar, Y; Bruckner, T; Akbar, M

    2018-02-27

    Shoulder pain and rotator cuff tears are highly prevalent among wheelchair dependent individuals with paraplegia. The purpose of this study was to identify potential risk factors associated with the development of rotator cuff tears in this population. A total of 217 wheelchair dependent individuals with paraplegia were included in this cross-sectional study (level of evidence III). The mean age of this population was 47.9 years and the mean duration of wheelchair dependence was 24.1 years. Each individual was asked to complete a questionnaire designed to identify risk factors for rotator cuff tears and underwent a standardized clinical examination with the documentation of the Constant-Murley shoulder outcome score and magnetic resonance imaging (MRI) of both shoulder joints. MRI analysis revealed at least one rotator cuff tear in 93 patients (43%). Multiple logistic regression analysis identified the following factors to be associated with the presence of rotator cuff tear: patient age, duration of spinal cord injury/wheelchair dependence, gender, and wheelchair athletic activity. Neither BMI nor the level of spinal cord injury was found to pose a risk factor in the population studied. With respect to patient age, the risk of developing a rotator cuff tear increased by 11% per annum. In terms of duration of spinal cord injury, the analysis revealed a 6% increased risk per year of wheelchair dependence (OR = 1.06). Females had a 2.6-fold higher risk of developing rotator cuff tears than males and wheelchair sport activity increased the risk 2.3-fold. There is a high prevalence of rotator cuff tears in wheel-chair dependent persons with paraplegia. Risk factors such as age, gender, duration of paraplegia, and wheel chair sport activity seem to play an important role in the development of rotator cuff tears.

  5. MR imaging of spastic diplegia. The importance of corpus callosum

    International Nuclear Information System (INIS)

    Hayakawa, K.; Kanda, T.; Hashimoto, K.; Okuno, Y.; Yamori, Y.; Yuge, M.; Ando, R.; Ozaki, N.; Tamamoto, A.

    1996-01-01

    Purpose: The MR findings in patients with spastic diplegia were investigated and the role of MR imaging in assessing the extent of brain injury was evaluated. Material and Methods: 39 male and 24 female patients (preterm/term 43/20) were imaged using a 0.5 T MR system. Results: The MR findings in term patients were quite different from those in preterm patients; 55% of the term patients showed normal and minimal changes on MR, whereas 90.7% of the 43 preterm children had periventricular leucomalacia. The deep cerebral white matter was the most frequently involved site. Objective measurements revealed significant reductions of the entire sagittal area of corpus callosum in diplegic patients in comparison with normal controls. The motor plasy severity correlated well with the extent of corpus callosum involvement. Conclusion: The corpus callosum appears to be a sensitive marker site for the assessment of the extent of white matter injury. (orig.)

  6. Chronic meningoencephalomyelitis with spastic spinal paralysis. Case report

    Energy Technology Data Exchange (ETDEWEB)

    Mitsuyama, Y; Thompson, L R; Yuki, I; Tanemori, H

    1973-01-01

    A case of chronic meningoencephalomyelitis in a 48-year-old housewife is presented. The onset was characterized by spastic paralysis of the lower extremities. The course was progressive with repeated remissions and exacerbations, and the patient died approximately 7 years after the onset of disease. Laboratory tests showed slightly increased cell count in the spinal fluid, accelerated sedimentation rate, positive CRP and RA, and increased ASLO and gamma globulin levels. Neuropathologic examination revealed such changes as perivascular cellular infiltration, glial nodules, poorly demarcated demyelination, and recent necrosis in the spinal cord and basal ganglia. Only mild inflammatory findings were noted in the telencephalon and brain stem. The clinicopathologic findings in this case supported a diagnosis of chronic meningoencepalomyelitis which could not be classified as any known type of encephalomyelitis. (auth)

  7. Botulinum toxin treatment for limb spasticity in childhood cerebral palsy

    Directory of Open Access Journals (Sweden)

    Vito ePavone

    2016-02-01

    Full Text Available CP is the most common cause of chronic disability in childhood occurring in 2 to 2.5/1000 births. It is a severe disorder and a significant number of patients present cognitive delay and difficulty in walking. The use of botulinum toxin (BTX has become a popular treatment for CP especially for spastic and dystonic muscles while avoiding deformity and pain. Moreover, the combination of physiotherapy, casting, orthotics and injection of BTX may delay or decrease the need for surgical intervention while reserving single-event, multi-level surgery for fixed musculotendinous contractures and bony deformities in older children. This report highlights the utility of BTX in the treatment of cerebral palsy in children. We include techniques for administration, side effects and possible resistance as well as specific use in the upper and lower limbs muscles

  8. Flexion synergy overshadows flexor spasticity during reaching in chronic moderate to severe hemiparetic stroke.

    Science.gov (United States)

    Ellis, Michael D; Schut, Ingrid; Dewald, Julius P A

    2017-07-01

    Pharmaceutical intervention targets arm flexor spasticity with an often-unsuccessful goal of improving function. Flexion synergy is a related motor impairment that may be inadvertently neglected. Here, flexor spasticity and flexion synergy are disentangled to determine their contributions to reaching dysfunction. Twenty-six individuals participated. A robotic device systematically modulated shoulder abduction loading during ballistic reaching. Elbow muscle electromyography data were partitioned into windows delineated by elbow joint velocity allowing for the separation of synergy- and spasticity-related activation. Reaching velocity decreased with abduction loading (psynergy increased with abduction loading (psynergy is the predominant contributor to reaching dysfunction while flexor spasticity appears only relevant during unnaturally occurring passively supported movement. Interventions targeting flexion synergy should be leveraged in future stroke recovery trials. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

  9. The effect of Sativex in neuropathic pain and spasticity in spinal cord injury

    DEFF Research Database (Denmark)

    Andresen, Sven Robert; Hansen, Rikke Bod Middelhede; Johansen, Inger Lauge

    2014-01-01

    Introduction: Neuropathic pain and spasticity after spinal cord injury represent significant but still unresolved problems, which cause considerable suffering and reduced quality of life for patients with spinal cord injury. Treatment of neuropathic pain and spasticity is complicated and patients...... often receive incomplete relief from present available and recommended treatment. Cannabinoids has shown efficacy on both neuropathic pain and spasticity in patients with spinal cord injury, but the studies one the topic has been too small to make a general conclusion for patients with spinal cord...... injury. Aims: To investigate the effect of Sativex (cannabinoid agonist given as an oral mucosal spray), on neuropathic pain and spasticity in patients with spinal cord injury. Methods: A randomized, double-blind, placebo-controlled crossover study. We will include 30 patients with neuropathic pain...

  10. A muscle-driven approach to restore stepping with an exoskeleton for individuals with paraplegia.

    Science.gov (United States)

    Chang, Sarah R; Nandor, Mark J; Li, Lu; Kobetic, Rudi; Foglyano, Kevin M; Schnellenberger, John R; Audu, Musa L; Pinault, Gilles; Quinn, Roger D; Triolo, Ronald J

    2017-05-30

    Functional neuromuscular stimulation, lower limb orthosis, powered lower limb exoskeleton, and hybrid neuroprosthesis (HNP) technologies can restore stepping in individuals with paraplegia due to spinal cord injury (SCI). However, a self-contained muscle-driven controllable exoskeleton approach based on an implanted neural stimulator to restore walking has not been previously demonstrated, which could potentially result in system use outside the laboratory and viable for long term use or clinical testing. In this work, we designed and evaluated an untethered muscle-driven controllable exoskeleton to restore stepping in three individuals with paralysis from SCI. The self-contained HNP combined neural stimulation to activate the paralyzed muscles and generate joint torques for limb movements with a controllable lower limb exoskeleton to stabilize and support the user. An onboard controller processed exoskeleton sensor signals, determined appropriate exoskeletal constraints and stimulation commands for a finite state machine (FSM), and transmitted data over Bluetooth to an off-board computer for real-time monitoring and data recording. The FSM coordinated stimulation and exoskeletal constraints to enable functions, selected with a wireless finger switch user interface, for standing up, standing, stepping, or sitting down. In the stepping function, the FSM used a sensor-based gait event detector to determine transitions between gait phases of double stance, early swing, late swing, and weight acceptance. The HNP restored stepping in three individuals with motor complete paralysis due to SCI. The controller appropriately coordinated stimulation and exoskeletal constraints using the sensor-based FSM for subjects with different stimulation systems. The average range of motion at hip and knee joints during walking were 8.5°-20.8° and 14.0°-43.6°, respectively. Walking speeds varied from 0.03 to 0.06 m/s, and cadences from 10 to 20 steps/min. A self-contained muscle

  11. Outcomes in spasticity after repetitive transcranial magnetic and transcranial direct current stimulations

    OpenAIRE

    Gunduz, Aysegul; Kumru, Hatice; Pascual-Leone, Alvaro

    2014-01-01

    Non-invasive brain stimulations mainly consist of repetitive transcranial magnetic stimulation and transcranial direct current stimulation. Repetitive transcranial magnetic stimulation exhibits satisfactory outcomes in improving multiple sclerosis, stroke, spinal cord injury and cerebral palsy-induced spasticity. By contrast, transcranial direct current stimulation has only been studied in post-stroke spasticity. To better validate the efficacy of non-invasive brain stimulations in improving ...

  12. Effects of Prolonged Standing on Gait in Children with Spastic Cerebral Palsy

    Science.gov (United States)

    Salem, Yasser; Lovelace-Chandler, Venita; Zabel, Reta J.; McMillan, Amy Gross

    2010-01-01

    The purpose of this study was to determine the effects of prolonged standing on gait characteristics in children with spastic cerebral palsy. Six children with spastic cerebral palsy participated in this study with an average age of 6.5 years (SD = 2.5, range = 4.0-9.8 years). A reverse baseline design (A-B-A) was used over a 9-week period. During…

  13. Whole plant cannabis extracts in the treatment of spasticity in multiple sclerosis: a systematic review

    Directory of Open Access Journals (Sweden)

    Rowland Marie

    2009-12-01

    Full Text Available Abstract Background Cannabis therapy has been considered an effective treatment for spasticity, although clinical reports of symptom reduction in multiple sclerosis (MS describe mixed outcomes. Recently introduced therapies of combined Δ9-tetrahydrocannabinol (THC and cannabidiol (CBD extracts have potential for symptom relief with the possibility of reducing intoxication and other side effects. Although several past reviews have suggested that cannabinoid therapy provides a therapeutic benefit for symptoms of MS, none have presented a methodical investigation of newer cannabinoid treatments in MS-related spasticity. The purpose of the present review was to systematically evaluate the effectiveness of combined THC and CBD extracts on MS-related spasticity in order to increase understanding of the treatment's potential effectiveness, safety and limitations. Methods We reviewed MEDLINE/PubMed, Ovid, and CENTRAL electronic databases for relevant studies using randomized controlled trials. Studies were included only if a combination of THC and CBD extracts was used, and if pre- and post-treatment assessments of spasticity were reported. Results Six studies were systematically reviewed for treatment dosage and duration, objective and subjective measures of spasticity, and reports of adverse events. Although there was variation in the outcome measures reported in these studies, a trend of reduced spasticity in treated patients was noted. Adverse events were reported in each study, however combined TCH and CBD extracts were generally considered to be well-tolerated. Conclusion We found evidence that combined THC and CBD extracts may provide therapeutic benefit for MS spasticity symptoms. Although some objective measures of spasticity noted improvement trends, there were no changes found to be significant in post-treatment assessments. However, subjective assessment of symptom relief did often show significant improvement post-treatment. Differences in

  14. Watsu approach for improving spasticity and ambulatory function in hemiparetic patients with stroke.

    Science.gov (United States)

    Chon, Seung Chul; Oh, Duck Won; Shim, Jae Hun

    2009-06-01

    This study reports the effect of Watsu as rehabilitation method for hemiparetic patients with stroke. Watsu consisted of 40 treatment sessions for 8 weeks, delivered underwater or at water surface level, it applied in three patients. Outcome measures included tools for assessing spasticity and ambulatory function. All patients showed decreased scores in the TAS and RVGA after Watsu application. Watsu was helpful in controlling spasticity and improving ambulatory function of the patients with hemiparesis.

  15. Effects of interactive games on motor performance in children with spastic cerebral palsy

    OpenAIRE

    AlSaif, Amer A.; Alsenany, Samira

    2015-01-01

    [Purpose] Motor control and muscle strength impairments are the prime reasons for motor behavior disorders in children with spastic cerebral palsy. These impairments lead to histological changes in muscle growth and the learning of motor skills. Therefore, such children experience reduced muscle force generation and decreased muscle flexibility. We investigated the effect of training with Nintendo Wii Fit games on motor performance in children with spastic cerebral palsy. [Subjects and Method...

  16. The use of transcutaneous electrical nerve stimulation (tens in the treatment of the spasticity - a review

    Directory of Open Access Journals (Sweden)

    Dahyan Wagner da Silva Silveira

    2008-01-01

    Full Text Available This study it has as objective to argue the job of TENS in the spasticity, observing the main parameters, form of application and the mechanism for which TENS it acts in the spasticity. One is about a bibliographical revision based in the literature specialized selected scientific articles through search in the data base of scielo and of bireme, from the sources Medline and Lilacs. The studies found on the job of TENS in the spasticity, had pointed mainly that this chain reduces the spasticity significantly, in lower degrees. The stimulation electrical parameters had disclosed that TENS it (about 100Hz of raised frequency provides one better effect in the reduction of the spasticity. The types of TENS more used had been the conventional and the soon-intense one, however some studies had not presented the used duration of pulse, limit the determination of one better modality of TENS. Few studies had explained the mechanism of performance of the current related one. The ones that had made it, had pointed the release of opioid endogenous (Dynorphins for the central nervous system as main mechanism of performance, however this contrasts with the neurophysiologic bases of the high-frequency stimulation, that demonstrated better resulted in the joined studies. Still it is necessary more studies on the job of this modality of stimulation electrical in the spasticity, since important parameters as duration of pulse, time of application, numbers of attendance and performance mechanism remains without scientific evidence.

  17. Muscle specific changes in length-force characteristics of the calf muscles in the spastic Han-Wistar rat

    DEFF Research Database (Denmark)

    Olesen, Annesofie Thorup; Jensen, Bente Rona; Uhlendorf, Toni L

    2014-01-01

    length, passive stiffness and passive force of spastic GA were decreased whereas those of spastic SO were increased. No mechanical interaction between the calf muscles and TA was found. As GA was lengthened, force from SO and PL declined despite a constant muscle-tendon unit length of SO and PL. However......, the extent of this interaction was not different in the spastic rats. In conclusion, the effects of spasticity on length-force characteristics were muscle specific. The changes seen for GA and PL muscles are consistent with the changes in limb mechanics reported for human patients. Our results indicate......The purpose of the present study was to investigate muscle mechanical properties and mechanical interaction between muscles in the lower hindlimb of the spastic mutant rat. Length-force characteristics of gastrocnemius (GA), soleus (SO) and plantaris (PL) were assessed in anesthetized spastic...

  18. A Hydatid Cyst of the Lumbar Spine: A Rare Cause of Paraplegia

    Directory of Open Access Journals (Sweden)

    Suhail Ur Rehman

    2017-05-01

    Full Text Available Introduction Hydatid cyst is a zoonotic disease, affecting humans and other mammals worldwide. It is caused by tapeworms of the genus Echinococcus, which is most frequently encountered in the liver and lungs. Although involvement of the central nervous system and spine is rare, it can lead to severe neurological deficits due to direct compression. Case Presentation We report a case of intradural extramedullary hydatid cyst in the lumbar region with a sudden onset, causing progressive paraplegia and areflexia over the past 20 days. After surgical removal, the cyst was sent for histopathological examination. The results showed inner laminated membranes and an outer fibrous layer, surrounded by foreign-body giant cells. The primary objective during surgery was to avoid perforation of the cyst, thereby reducing the risk of systemic dissemination and local seeding of the parasite. During the postoperative period, there was a steady improvement in the neurological deficit, and the patient was discharged with anthelmintics to prevent any distant dissemination. Conclusions An accurate and precise diagnosis is necessary when dealing with cystic pathologies.

  19. Paraplegia espastica familiar com amiotrofia: estudo clinico, eletromiografico, histoquimico e microdissecção

    Directory of Open Access Journals (Sweden)

    Lineu Cesar Werneck

    1979-06-01

    Full Text Available Relato de quatro casos de paraplegia, espástica familiar com amiotrofia, em irmãos provenientes de um matrimônio consanguíneo. A investigação laboratorial rotineira estava normal. A eletromiografia e biópsia muscular com histoquímica demonstraram denervação com reinervação. As conduções nervosas motoras estavam diminuídas em três casos no nervo peroneiro. A análise por microdissecção do nervo sural foi anormal nos quatro casos, revelando desmielinização e remielinização. Após revisão da literatura, os autores acreditam que as alterações encontradas são decorrentes de degeneração axonal distai, com regeneração secundária e levantam a hipótese de defeito no fluxo axoplásmico do sistema nervoso central e periférico.

  20. Measuring the collateral network pressure to minimize paraplegia risk in thoracoabdominal aneurysm resection.

    Science.gov (United States)

    Etz, Christian D; Zoli, Stefano; Bischoff, Moritz S; Bodian, Carol; Di Luozzo, Gabriele; Griepp, Randall B

    2010-12-01

    To minimize paraplegia during thoracoabdominal aortic aneurysm repair, the concept of the collateral network was developed. That is, spinal cord perfusion is provided by an interconnecting complex of vessels in the intraspinal, paraspinous, and epidural space and in the paravertebral muscles, including intercostal and lumbar segmental as well as subclavian and hypogastric arteries. Collateral network pressure was measured with a catheter in the distal end of a ligated segmental artery in pigs and human beings. In the pig, collateral network pressure was 75% of the simultaneous mean aortic pressure. With complete segmental arterial ligation, it fell to 27% of baseline, recovering to 40% at 24 hours and 90% at 120 hours. Spinal cord injury occurred in approximately 50% of animals. When all segmental arteries were taken in 2 stages a week apart, collateral network pressure fell only to 50% to 70% of baseline, and spinal cord injury was rare. In human beings, baseline collateral network pressure also was 75% of mean aortic pressure, fell in proportion to the number of segmental arteries ligated, and began recovery within 24 hours. Collateral network pressure was lower with nonpulsatile distal bypass than with pulsatile perfusion. After subtraction of a measure of spinal cord outflow pressure (cerebrospinal fluid pressure or central venous pressure), collateral network pressure provides a clinically useful estimate of spinal cord perfusion pressure. Copyright © 2010. Published by Mosby, Inc.

  1. Delayed spinal extradural hematoma following thoracic spine surgery and resulting in paraplegia: a case report

    Directory of Open Access Journals (Sweden)

    Parthiban Chandra JKB

    2008-05-01

    Full Text Available Abstract Introduction Postoperative spinal extradural hematomas are rare. Most of the cases that have been reported occured within 3 days of surgery. Their occurrence in a delayed form, that is, more than 72 hours after surgery, is very rare. This case is being reported to enhance awareness of delayed postoperative spinal extradural hematomas. Case presentation We report a case of acute onset dorsal spinal extradural hematoma from a paraspinal muscular arterial bleed, producing paraplegia 72 hours following surgery for excision of a spinal cord tumor at T8 level. The triggering mechanism was an episode of violent twisting movement by the patient. Fresh blood in the postoperative drain tube provided suspicion of this complication. Emergency evacuation of the clot helped in regaining normal motor and sensory function. The need to avoid straining of the paraspinal muscles in the postoperative period is emphasized. Conclusion Most cases of postoperative spinal extradural hematomas occur as a result of venous bleeding. However, an arterial source of bleeding from paraspinal muscular branches causing extradural hematoma and subsequent neurological deficit is underreported. Undue straining of paraspinal muscles in the postoperative period after major spinal surgery should be avoided for at least a few days.

  2. Unusual Presentation of a Primary Ewing's Sarcoma of the Spine with Paraplegia: A Case Report.

    Science.gov (United States)

    Kannan, Karthik Kailash; Sundarapandian, Rajkumar Jayachandran; Surulivel, Vignesh Jayabalan

    2015-03-01

    Ewing's sarcoma is a primary malignancy of the bone affecting individuals in the second decade of life. Primary sarcomas of the spine are rare and the occurrence of Primary Ewing's sarcoma in the spine is very rare. Ewing's sarcoma occurring in the spine is divided into two types, Ewing's sarcoma of sacral spine which are very aggressive with poor prognosis and Ewing's sarcoma of the non sacral spine which is an extremely rare occurrence. Patient may present with neurological deficit when the tumour extends into the spinal canal causing spinal cord compression. Magnetic resonance imaging (MRI) is very sensitive in diagnosing the tumour and defining the extent of the tumour. Here we report an 18-year-old boy who presented with back pain and complete paraplegia of two months duration. The MRI gave a differential diagnosis of infective pathology due to the fluid collection in the paraspinal region, followed by primary malignancy as the second diagnosis. Patient underwent posterior spinal decompression and stabilization, and intaoperatively there was significant collection of pus whose culture showed no growth. The histopathology and immunohistochemistry studies confirmed the diagnosis of Ewing's sarcoma and patient was started on combination chemotherapy and radiotherapy.

  3. Physical therapy in patients with disorders of consciousness: Impact on spasticity and muscle contracture.

    Science.gov (United States)

    Thibaut, A; Wannez, S; Deltombe, T; Martens, G; Laureys, S; Chatelle, C

    2018-01-01

    Spasticity is a frequent complication after severe brain injury, which may prevent the rehabilitation process and worsen the patients' quality of life. In this study, we investigated the correlation between spasticity, muscle contracture, and the frequency of physical therapy (PT) in subacute and chronic patients with disorders of consciousness (DOC). 109 patients with subacute and chronic disorders of consciousness (Vegetative state/Unresponsive wakefulness syndrome - VS/UWS; minimally conscious state - MCS and patients who emerged from MCS - EMCS) were included in the study (39 female; mean age: 40±13.5y; 60 with traumatic etiology; 35 VS/UWS, 68 MCS, 6 EMCS; time since insult: 38±42months). The number of PT sessions (i.e., 20 to 30 minutes of conventional stretching of the four limbs) was collected based on patients' medical record and varied between 0 to 6 times per week (low PT = 0-3 and high PT = 4-6 sessions per week). Spasticity was measured with the Modified Ashworth Scale (MAS) on every segment for both upper (UL) and lower limbs (LL). The presence of muscle contracture was assessed in every joint. We tested the relationship between spasticity and muscle contracture with the frequency of PT as well as other potential confounders such as time since injury or anti-spastic medication intake. We identified a negative correlation between the frequency of PT and MAS scores as well as the presence of muscle contracture. We also identified that patients who received less than four sessions per week were more likely to be spastic and suffer from muscle contracture than patients receiving 4 sessions or more. When separating subacute (3 to 12 months post-insult) and chronic (>12months post-insult) patients, these negative correlations were only observed in chronic patients. A logit regression model showed that frequency of PT influenced spasticity, whereas neither time since insult nor medication had a significant impact on the presence of spasticity. On

  4. Procedure-Oriented Torsional Anatomy of the Hand for Spasticity Injection.

    Science.gov (United States)

    John, Joslyn; Cianca, John; Chiou-Tan, Faye; Pandit, Sindhu; Furr-Stimming, Erin; Taber, Katherine H

    To provide musculoskeletal ultrasound (MSKUS) images of hand anatomy in the position of hemiparetic flexion as a reference for spasticity injections. After a stroke, spasticity can result in anatomic distortion of the hand. Spasticity may require treatment with botulinum toxin or phenol injections. Anatomic distortion may decrease the accuracy of injections. Standard anatomic references are of limited utility because they are not in this spastic hemiparetic position. There presently is no anatomic reference in the literature for these spastic postures. This study is part three of a series examining torsional anatomy of the body. Ultrasound (US) images were obtained in a healthy subject. The muscles examined included the lumbricals and the flexor pollicis brevis. A marker dot was placed at each dorsal and palmar anatomic injection site for these muscles. The US probe was placed on these dots to obtain a cross-sectional view. A pair of US images was recorded with and without power Doppler imaging: the first in anatomic neutral and second in hemiparetic spastic positions. In addition, a video recording of the movement of the muscles during this rotation was made at each site. On the palmar view, the lumbricals rotated medially. On dorsal view, the lumbricals can be seen deep to the dorsal interossei muscles, with spastic position, and they become difficult to identify. The flexor pollicis brevis (FPB) muscle contracts with torsion, making abductor pollicis brevis (APB) predominately in view. The anatomic location of the lumbrical muscles makes them difficult to inject even with ultrasound guidance. However, recognizing the nearby digital vasculature allows for improved identification of the musculature for injection purposes. The FPB muscle also can be identified by its adjacent radial artery lateral to the flexor pollicus longus tendon. Normal anatomy of hand can become distorted in spastic hemiparesis. Diagnostic ultrasound is able to discern these anatomic

  5. Effect of nutritional support in children with spastic quadriplegia.

    Science.gov (United States)

    Soylu, Ozlem Bekem; Unalp, Aycan; Uran, Nedret; Dizdarer, Gülsen; Ozgonul, Figen Oksel; Conku, Aliye; Ataman, Hamide; Ozturk, Aysel Aydogan

    2008-11-01

    Malnutrition is a common problem in patients with cerebral palsy. We evaluated the effect of nutritional support on clinical findings in children with spastic quadriplegia. Feeding history, numbers of lower respiratory tract infections, and gastrointestinal and neurologic findings were evaluated via questionnaire. Weight, height, head circumference, midarm circumference, and triceps skinfold thickness were measured. Height for age, weight for age, weight for height, body mass index, and weight and height z-scores were calculated. Clinical findings and anthropometric parameters were re-evaluated after nutritional support for 6 months. Forty-five patients were enrolled. No difference was evident between the first and the last height z-scores of 31 patients who completed the follow-up. Weight, height, weight z-scores, weight for age, weight for height, body mass index, midarm circumference, and triceps skinfold thickness exhibited improvement. Moreover, a significant decrease in number of infections was evident. Frequency of seizures and Gross Motor Function Classification System status did not change. Constipation decreased significantly. Nutritional therapy revealed improvements in some anthropometric findings and a decrease in number of infections. Although there was no difference regarding motor development or seizure frequency, further studies with a longer follow-up are required.

  6. Esophageal hypomotility and spastic motor disorders: current diagnosis and treatment.

    Science.gov (United States)

    Valdovinos, Miguel A; Zavala-Solares, Monica R; Coss-Adame, Enrique

    2014-11-01

    Esophageal hypomotility (EH) is characterized by abnormal esophageal peristalsis, either from a reduction or absence of contractions, whereas spastic motor disorders (SMD) are characterized by an increase in the vigor and/or propagation velocity of esophageal body contractions. Their pathophysiology is not clearly known. The reduced excitation of the smooth muscle contraction mediated by cholinergic neurons and the impairment of inhibitory ganglion neuronal function mediated by nitric oxide are likely mechanisms of the peristaltic abnormalities seen in EH and SMD, respectively. Dysphagia and chest pain are the most frequent clinical manifestations for both of these dysfunctions, and gastroesophageal reflux disease (GERD) is commonly associated with these motor disorders. The introduction of high-resolution manometry (HRM) and esophageal pressure topography (EPT) has significantly enhanced the ability to diagnose EH and SMD. Novel EPT metrics in particular the development of the Chicago Classification of esophageal motor disorders has enabled improved characterization of these abnormalities. The first step in the management of EH and SMD is to treat GERD, especially when esophageal testing shows pathologic reflux. Smooth muscle relaxants (nitrates, calcium channel blockers, 5-phosphodiesterase inhibitors) and pain modulators may be useful in the management of dysphagia or pain in SMD. Endoscopic Botox injection and pneumatic dilation are the second-line therapies. Extended myotomy of the esophageal body or peroral endoscopic myotomy (POEM) may be considered in highly selected cases but lack evidence.

  7. Comparison of 24-hour cardiovascular and autonomic function in paraplegia, tetraplegia, and control groups: implications for cardiovascular risk.

    Science.gov (United States)

    Rosado-Rivera, Dwindally; Radulovic, M; Handrakis, John P; Cirnigliaro, Christopher M; Jensen, A Marley; Kirshblum, Steve; Bauman, William A; Wecht, Jill Maria

    2011-01-01

    Fluctuations in 24-hour cardiovascular hemodynamics, specifically heart rate (HR) and blood pressure (BP), are thought to reflect autonomic nervous system (ANS) activity. Persons with spinal cord injury (SCI) represent a model of ANS dysfunction, which may affect 24-hour hemodynamics and predispose these individuals to increased cardiovascular disease risk. To determine 24-hour cardiovascular and ANS function among individuals with tetraplegia (n=20; TETRA: C4-C8), high paraplegia (n=10; HP: T2-T5), low paraplegia (n=9; LP: T7-T12), and non-SCI controls (n=10). Twenty-four-hour ANS function was assessed by time domain parameters of heart rate variability (HRV); the standard deviation of the 5-minute average R-R intervals (SDANN; milliseconds/ms), and the root-mean square of the standard deviation of the R-R intervals (rMSSD; ms). Subjects wore 24-hour ambulatory monitors to record HR, HRV, and BP. Mixed analysis of variance (ANOVA) revealed significantly lower 24-hour BP in the tetraplegic group; however, BP did not differ between the HP, LP, and control groups. Mixed ANOVA suggested significantly elevated 24-hour HR in the HP and LP groups compared to the TETRA and control groups (Pcontrol groups (Pcontrol groups (P<0.01). Twenty-four-hour SDANN was significantly increased in the HP group compared to the LP and TETRA groups (P<0.05) and rMSSD was significantly lower in the LP compared to the other three groups (P<0.05). Elevated 24-hour HR in persons with paraplegia, in concert with altered HRV dynamics, may impart significant adverse cardiovascular consequences, which are currently unappreciated.

  8. The DALY, context and the determinants of the severity of disease: an exploratory comparison of paraplegia in Australia and Cameroon.

    Science.gov (United States)

    Allotey, Pascale; Reidpath, Daniel; Kouamé, Aka; Cummins, Robert

    2003-09-01

    This paper summarises the findings of an empirical investigation of some of the technical and social assumptions on which the disability adjusted life year (DALY) is based. The objectives of the study were to examine the notion that the burden of disease is broadly similar without regard to country, environment, gender or socio-economic status and to develop detailed descriptions of the experiences of the burden of disease as they related to these contextual factors. The study was a multi-factorial exploratory study employing qualitative and quantitative techniques to obtain data on the effects of country (development), environment (urban versus rural), gender and socio-economic status on people with paraplegia. The data provided an extensive and detailed compilation of context rich descriptions of living with paraplegia. Striking features of the data were the differences between countries with respect to the impact of the health conditions on functioning and highlight a context in which paraplegia of like clinical severity can be fatal in one environment and not in another. While there has been some focus on the control of social determinants of disease, there has been little work on the social determinants of the severity of disease. The underlying assumptions of the DALY, which ignore context in the assessment of the burden of disease, risk exacerbating inequalities by undervaluing the burden of disease in less-developed countries. There is a need to continue to subject the development of indicators to rigorous debate to determine a balance between the assumption of a global "average social milieu" and the treatment of each individual as belonging to their own context in the assessment of population health in order for indicators to be meaningful cross-culturally.

  9. A comparison of 2 circuit exercise training techniques for eliciting matched metabolic responses in persons with paraplegia.

    Science.gov (United States)

    Nash, Mark S; Jacobs, Patrick L; Woods, Jeffrey M; Clark, James E; Pray, Tanya A; Pumarejo, Alex E

    2002-02-01

    To test whether acute metabolic (VO(2)), chronotropic (heart rate), and perceptual (rating of perceived exertion; RPE) responses to exercise by persons with paraplegia differ when the exercise is on a multistation isoinertial exercise system (MultiGym) or on a customized system of Thera-Band resistance bands (ElasticGym). Within-subjects comparison of 2 treatments. Academic medical center. Sixteen men and 1 woman with complete paraplegia (T4-L1), as defined by the American Spinal Injury Association. A circuit resistance training (CRT) program for persons with paraplegia was adapted to both a MultiGym and a customized ElasticGym. Exercises used for training and testing used 6 resistance maneuvers at 50% of the 1-repetition maximum (1-RM), with interposed rapid arm spinning. Subjects were habituated to both conditions for 2 weeks before testing on randomized nonconsecutive days. VO(2) (L/min) was measured by portable spirometry, heart rate (beats/min) by a chest strap monitor, and RPE by the Borg Scale of Perceived Exertion (6-20). No significant effects of test condition on average VO(2) or heart rate were observed, with differences between conditions reflecting only .08L/min and 6.4 beats/min, respectively. Average RPE was significantly higher in testing under the ElasticGym condition (P < .05). CRT on a customized ElasticGym system elicited acute metabolic and chronotropic responses that did not differ from responses to exercise on a MultiGym, though RPE was greater with the ElasticGym. Copyright 2002 by the American Congress of Rehabilitation Medicine and the American Academy of Physical Medicine and Rehabilitation

  10. Short-term effects of upper extremity circuit resistance training on muscle strength and functional independence in patients with paraplegia.

    Science.gov (United States)

    Yildirim, Adem; Sürücü, Gülseren Dost; Karamercan, Ayşe; Gedik, Dilay Eken; Atci, Nermin; Dülgeroǧlu, Deniz; Özgirgin, Neşe

    2016-11-21

    A number of exercises to strengthen the upper extremities are recommended to increase functional independence and quality of life (QoL) in patients with paraplegia. Circuit resistance training (CRT) is a type of progressive resistive exercise performed repeatedly at fixed mechanical exercise stations. The aim of this study was to investigate the potential benefits of CRT for upper extremity muscle strength, functional independence, and QoL in patients with paraplegia. Twenty-six patients with paraplegia who were participating in a conventional rehabilitation program at a tertiary education and research hospital were enrolled in this study. The participants were randomly assigned to two groups. The exercise group participated in the CRT program, which consisted of repetitive exercises for the upper extremities performed at fixed mechanical stations 5 sessions per week for 6 weeks, in addition to conventional rehabilitation. Participants in the control group received only conventional rehabilitation over the same period. We compared the groups with respect to QoL, as well as isokinetic muscle test outcomes in the upper extremities, using the Functional Independence Measure (FIM) and Borg's scale. We observed significant increases in scores on the physical component of the FIM, Borg's scale, and QoL in both the exercise and control groups. Furthermore, the large majority of isokinetic values were significantly more improved in the exercise group compared to the control group. When post-treatment outcomes were compared between the groups, improvements in scores on the physical component of the FIM and in most isokinetic values were significantly greater in the exercise group. This study showed that CRT has positive effects on muscle strength in the upper extremities and the physical disability components of the FIM when added to conventional rehabilitation programs for paraplegic patients. However, we observed no significant improvement in QoL scores after adding CRT

  11. Effects of repetitive peripheral magnetic stimulation on upper-limb spasticity and impairment in patients with spastic hemiparesis: a randomized, double-blind, sham-controlled study.

    Science.gov (United States)

    Krewer, Carmen; Hartl, Sandra; Müller, Friedemann; Koenig, Eberhard

    2014-06-01

    To investigate short-term and long-term effects of repetitive peripheral magnetic stimulation (rpMS) on spasticity and motor function. Monocentric, randomized, double-blind, sham-controlled trial. Neurologic rehabilitation hospital. Patients (N=66) with severe hemiparesis and mild to moderate spasticity resulting from a stroke or a traumatic brain injury. The average time ± SD since injury for the intervention groups was 26 ± 71 weeks or 37 ± 82 weeks. rpMS for 20 minutes or sham stimulation with subsequent occupational therapy for 20 minutes, 2 times a day, over a 2-week period. Modified Tardieu Scale and Fugl-Meyer Assessment (arm score), assessed before therapy, at the end of the 2-week treatment period, and 2 weeks after study treatment. Additionally, the Tardieu Scale was assessed after the first and before the third therapy session to determine any short-term effects. Spasticity (Tardieu >0) was present in 83% of wrist flexors, 62% of elbow flexors, 44% of elbow extensors, and 10% of wrist extensors. Compared with the sham stimulation group, the rpMS group showed short-term effects on spasticity for wrist flexors (P=.048), and long-term effects for elbow extensors (P<.045). Arm motor function (rpMS group: median 5 [4-27]; sham group: median 4 [4-9]) did not significantly change over the study period in either group, whereas rpMS had a positive effect on sensory function. Therapy with rpMS increases sensory function in patients with severe limb paresis. The magnetic stimulation, however, has limited effect on spasticity and no effect on motor function. Copyright © 2014 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  12. Activation of lower back muscles via FES for pressure sores prevention in paraplegia: a case study.

    Science.gov (United States)

    Vanoncini, M; Holderbaum, W; Andrews, B J

    2010-04-01

    The aim of this paper is to show the feasibility of the use of functional electrical stimulation (FES) applied to the lower back muscles for pressure sores prevention in paraplegia. The hypothesis under study is that FES induces a change in the pressure distribution on the contact area during sitting. Tests were conducted on a paraplegic subject (T5), sitting on a standard wheelchair and cushion. Trunk extensors (mainly the erector spinae) were stimulated using surface electrodes placed on the skin. A pressure mapping system was used to measure the pressure on the sitting surface in four situations: (a) no stimulation; (b) stimulation on one side of the spine only; (c) stimulation on both sides, at different levels; and (d) stimulation at the same level on both sides, during pressure-relief manoeuvres. A session of prolonged stimulation was also conducted. The experimental results show that the stimulation of the erector spinae on one side of the spine can induce a trunk rotation on the sagittal plane, which causes a change in the pressure distribution. A decrease of pressure on the side opposite to the stimulation was recorded. The phenomenon is intensified when different levels of stimulation are applied to the two sides, and such change can be sustained for a considerable time (around 5 minutes). The stimulation did not induce changes during pressure-relief manoeuvres. Finally, from this research we can conclude that the stimulation of the trunk extensors can be a useful tool for pressure sores prevention, and can potentially be used in a routine for pressure sores prevention based on periodical weight shifts.

  13. Burn from car seat heater in a man with paraplegia: case report

    Science.gov (United States)

    Benjamin, Cheryl; Gittler, Michelle; Lee, Ray

    2011-01-01

    Objective/background Heated car seats are a common feature in newer automobiles. They are increasingly being recognized as potential hazards as there have been multiple reports of significant burns to its users. The potential for harm is considerably increased in those with impaired sensation with the possibility of a devastating injury. Methods Case report and literature review. Results A 26-year-old male with a T8 ASIA A paraplegia presented to the outpatient clinic for management of a hip burn. Two weeks prior to his visit he was driving a 2004 Jeep Cherokee for approximately 30 minutes. He was unaware that the driver's side seat warmer was set on high. He denied that his seat belt was in direct contact with the skin of his right hip. He presented to an acute care hospital that evening with a hip burn where he was prescribed silver sulfadiazine cream and instructed to apply it until his scheduled follow-up clinic visit. In clinic, the hip wound was unstageable with approximately 95% eschar. A dressing of bismuth tribromophenate in petrolatum was applied to the wound and he was instructed to change the dressing daily. This was later changed to an antimicrobial alginate dressing. The ulcer eventually healed. Conclusions This case illustrates the significant risk of car seat heaters in individuals with spinal cord injuries or neurological impairment who have decreased sensation. Additionally, it highlights an atypical area of potential for burn. Furthermore, it emphasizes the need for a heightened awareness for this unique and dangerous situation. PMID:21756574

  14. The mechanism of neurofeedback training for treatment of central neuropathic pain in paraplegia: a pilot study.

    Science.gov (United States)

    Hassan, Muhammad Abul; Fraser, Matthew; Conway, Bernard A; Allan, David B; Vuckovic, Aleksandra

    2015-10-13

    Central neuropathic pain has a prevalence of 40% in patients with spinal cord injury. Electroencephalography (EEG) studies showed that this type of pain has identifiable signatures, that could potentially be targeted by a neuromodulation therapy. The aim of the study was to investigate the putative mechanism of neurofeedback training on central neuropathic pain and its underlying brain signatures in patients with chronic paraplegia. Patients' EEG activity was modulated from the sensory-motor cortex, electrode location C3/Cz/C4/P4 in up to 40 training sessions Results. Six out of seven patients reported immediate reduction of pain during neurofeedback training. Best results were achieved with suppressing Ɵ and higher β (20-30 Hz) power and reinforcing α power at C4. Four patients reported clinically significant long-term reduction of pain (>30%) which lasted at least a month beyond the therapy. EEG during neurofeedback revealed a wide spread modulation of power in all three frequency bands accompanied with changes in the coherence most notable in the beta band. The standardized low resolution electromagnetic tomography analysis of EEG before and after neurofeedback therapy showed the statistically significant reduction of power in beta frequency band in all tested patients. Areas with reduced power included the Dorsolateral Prefrontal Cortex, the Anterior Cingulate Cortex and the Insular Cortex. Neurofeedback training produces both immediate and longer term reduction of central neuropathic pain that is accompanied with a measurable short and long term modulation of cortical activity. Controlled trials are required to confirm the efficacy of this neurofeedback protocol on treatment of pain. The study is a registered UKCRN clinical trial Nr 9824.

  15. Neuro-musculoskeletal simulation of instrumented contracture and spasticity assessment in children with cerebral palsy.

    Science.gov (United States)

    van der Krogt, Marjolein Margaretha; Bar-On, Lynn; Kindt, Thalia; Desloovere, Kaat; Harlaar, Jaap

    2016-07-16

    Increased resistance in muscles and joints is an important phenomenon in patients with cerebral palsy (CP), and is caused by a combination of neural (e.g. spasticity) and non-neural (e.g. contracture) components. The aim of this study was to simulate instrumented, clinical assessment of the hamstring muscles in CP using a conceptual model of contracture and spasticity, and to determine to what extent contracture can be explained by altered passive muscle stiffness, and spasticity by (purely) velocity-dependent stretch reflex. Instrumented hamstrings spasticity assessment was performed on 11 children with CP and 9 typically developing children. In this test, the knee was passively stretched at slow and fast speed, and knee angle, applied forces and EMG were measured. A dedicated OpenSim model was created with motion and muscles around the knee only. Contracture was modeled by optimizing the passive muscle stiffness parameters of vasti and hamstrings, based on slow stretch data. Spasticity was modeled using a velocity-dependent feedback controller, with threshold values derived from experimental data and gain values optimized for individual subjects. Forward dynamic simulations were performed to predict muscle behavior during slow and fast passive stretches. Both slow and fast stretch data could be successfully simulated by including subject-specific levels of contracture and, for CP fast stretches, spasticity. The RMS errors of predicted knee motion in CP were 1.1 ± 0.9° for slow and 5.9 ± 2.1° for fast stretches. CP hamstrings were found to be stiffer compared with TD, and both hamstrings and vasti were more compliant than the original generic model, except for the CP hamstrings. The purely velocity-dependent spasticity model could predict response during fast passive stretch in terms of predicted knee angle, muscle activity, and fiber length and velocity. Only sustained muscle activity, independent of velocity, was not predicted by our model. The

  16. Clinical and neuroimaging profile of congenital brain malformations in children with spastic cerebral palsy

    International Nuclear Information System (INIS)

    Kulak, W.; Okurowska-Zawada, B.; Sobaniec, W.; Goscik, M.; Olenski, J.

    2008-01-01

    Purpose: Analysis of the incidence of congenital brain malformations in children with spastic cerebral palsy (CP) in a hospital based study. Material and Methods: The present study included 74 boys and 56 girls with spastic tetraplegia, diplegia, and hemiplegia CP. Magnetic resonance imaging MRI findings were analyzed in children with CP. Results: Significant abnormalities relevant to the CP were evident on MRI in 124 (95.3%) subjects. Periventicular leukomalacia (PVL) was detected more frequently in children with spastic diplegia than in patients with tetraplegia or hemiplegia. Cerebral atrophy was found more often in the tetraplegic group compared to the diplegic patients. Porencephalic cysts were detected more often in children with spastic hemiplegia. Congenital brain anomalies were evident in 15 (10.7%) children with spastic CP. Brain malformations included: schizencephaly (5), agenesis corpus callosum (4), polymicrogyria (2), holoprosencephaly (2) and lissencephaly (2). Intractable epilepsy and mental retardation were observed more often in children with brain anomalies. Twelve patients with congenital brain malformations were born at term and three born at preterm. Conclusions: Neuroimaging results in children with CP may help determine the etiology and make better prognosis of CP. (authors)

  17. Identification of the neural component of torque during manually-applied spasticity assessments in children with cerebral palsy

    NARCIS (Netherlands)

    Bar-On, L.; Desloovere, K.; Molenaers, G.; Harlaar, J.; Kindt, T.; Aertbelien, E.

    2014-01-01

    Clinical assessment of spasticity is compromised by the difficulty to distinguish neural from non-neural components of increased joint torque. Quantifying the contributions of each of these components is crucial to optimize the selection of anti-spasticity treatments such as botulinum toxin (BTX).

  18. Post-activation depression of soleus stretch reflexes in healthy and spastic humans

    DEFF Research Database (Denmark)

    Grey, Michael James; Klinge, Klaus; Crone, Clarissa

    2007-01-01

    Reduced depression of transmitter release from Ia afferents following previous activation (post-activation depression) has been suggested to be involved in the pathophysiology of spasticity. However, the effect of this mechanism on the myotatic reflex and its possible contribution to increased...... reflex excitability in spastic participants has not been tested. To investigate these effects, we examined post-activation depression in Soleus H-reflex responses and in mechanically evoked Soleus stretch reflex responses. Stretch reflex responses were evoked with consecutive dorsiflexion perturbations...... of the soleus stretch reflex and H-reflex decreased as the interval between the stimulus/perturbation was decreased. Similarly, the stretch-evoked torque decreased. In the spastic participants, the post-activation depression of both reflexes and the stretch-evoked torque was significantly smaller than...

  19. Treatment of os odontoideum in a patient with spastic quadriplegic cerebral palsy.

    Science.gov (United States)

    Akpolat, Yusuf T; Fegale, Ben; Cheng, Wayne K

    2015-08-01

    Severe atlantoaxial instability due to os odontoideum in a patient with spastic cerebral palsy has not been well described. There is no consensus on treatment, particularly with regard to conservative or surgical options. Our patient was a 9-year-old girl with spastic cerebral palsy and unstable os odontoideum as an incidental finding. During the waiting period for elective surgical treatment, the patient developed respiratory compromise. Surgery was performed to reduce the subluxation and for C1-C2 arthrodesis and the girl regained baseline respiratory function. A CT scan was obtained 1 year after the initial surgery and revealed adequate maintenance of reduction and patency of the spinal canal. This patient highlights the fact that unstable os odontoideum can cause mortality due to respiratory distress in patients with spastic cerebral palsy. This is an important factor in deciding treatment options for cerebral palsy patients with low functional demand. We review the relevant literature. Copyright © 2015 Elsevier Ltd. All rights reserved.

  20. Unstable gait due to spasticity of the rectus femoris: gait analysis and motor nerve block.

    Science.gov (United States)

    Gross, R; Leboeuf, F; Rémy-Néris, O; Perrouin-Verbe, B

    2012-12-01

    We present the case of a 54 year-old man presenting with a right Brown-Séquard plus syndrome (BSPS) after a traumatic cervical spinal cord injury. After being operated on with selective tibial neurotomy and triceps surae lengthening because of a right spastic equinus foot, he developed a gait disorder at high speed. The patient complained about an instability of the right knee. Observational gait analysis exhibited an oscillating, flexion/extension motion of the right knee during stance, which was confirmed by gait analysis. Dynamic electromyographic recordings exhibited a clonus of the right rectus femoris (RF) during stance. The spastic activity of the RF and the abnormal knee motion totally reversed after a motor nerve block of the RF, as well as after botulinum toxin type A injection into the RF. We emphasize that complex, spastic gait disorders can benefit from a comprehensive assessment including gait analysis and nerve blocks. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  1. Skeletal Maturation and Mineralisation of Children with Moderate to Severe Spastic Quadriplegia

    Science.gov (United States)

    Sitaraman, Sadasivan

    2016-01-01

    Introduction Diminished bone mineral density and delayed skeletal maturation are common in children with spastic quadriplegia. Aim The purpose of our study was to evaluate the Bone Mineral Density (BMD) of children with moderate to severe spastic quadriplegia and its relationship with other variables like nutrition and growth. Materials and Methods This was a hospital based, cross- sectional, case-control study. Forty-two (28 males, 14 females) children with spastic quadriplegia and 42 (24 males, 18 females) healthy children were included in the study. BMD of cases and control were measured by Dual Energy X-ray Absorptiometry (DEXA). Radiographs of left hand and wrist of cases and controls were taken and bone age was determined. Results BMD values of upper extremity, lower extremity, thoraco-lumbar spine and pelvis in cases were lower than those of controls (p quadriplegia and nutritional status is an important contributing factor. PMID:27504366

  2. A literature review on the efficacy and safety of botulinum toxin: An injection in post-stroke spasticity

    Directory of Open Access Journals (Sweden)

    Majid Ghasemi

    2013-01-01

    Full Text Available Background: A variety of techniques for the management of spasticity have been suggested, including positioning, cryotherapy, splinting and casting, biofeedback, electrical stimulation, and medical management by pharmacological agents, Botulinum toxin A (BTA is now the pharmacological treatment of choice in focal spasticity. BTA by blocking acetylcholine release at neuromuscular junctions accounts for its therapeutic action to relieve spasticity. Methods: A computerized search of Pub Med was carried out to find the latest result about efficacy of BTA in management of post stroke spasticity. Result: Among 84 articles were found, frothy of them included in this review and divided to lower and upper extremity. Conclusions: BTA is a treatment choice in reducing tone and managing post stroke spasticity .

  3. [Management of symptoms associated with spasticity in patients with multiple sclerosis].

    Science.gov (United States)

    Fernández-Pablos, María Asunción; Costa-Frossard, Lucienne; García-Hernández, Carlos; García-Montes, Inmaculada; Escutia-Roig, Matilde

    To describe the role of nurses in the management of symptoms related to spasticity in patients with multiple sclerosis (MS). A descriptive study was developed based on a questionnaire on spasticity in MS patients. The questionnarie was completed through an anonymous tele-voting system at a national meeting with nurses involved in the management of these patients. Apart from fatigue, according to the opinion of the participants, the spasticity symptom associated with MS most notified by patients was difficulty in walking, followed by spasms and pain. Participants thought that it is important that nursing takes: 1) a role in identifying these symptoms, 2) should focus on the detection of the triggering or aggravating factors, and 3) on providing support in the assessment of the level of spasticity. It is important to inform about the correct use of anti-spasticity drugs, how to adjust the dosage and side effects of treatments, including cannabinoids via an oromucosal spray, titrating its doses according to each patient, and monitoring its tolerability, efficacy and adherence. Although there are usually resources to follow up these patients, there are still important gaps, including the lack of a specific follow-up protocol. Although all the participants are experts in the management of patients with MS, there is still diversity in the functions they perform, and the available resources they have in their hospitals. Nurses act as a key element in the process of identification of symptoms, training and monitoring of these patients with spasticity in EM. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

  4. Sensory Barrage Stimulation in the Treatment of Elbow Spasticity: A Crossover Double Blind Randomized Pilot Trial.

    Science.gov (United States)

    Slovak, Martin; Chindo, Joseph; Nair, Krishnan Padmakumari Sivaraman; Reeves, Mark L; Heller, Ben; Barker, Anthony T

    2016-02-01

    To assess the feasibility of using a novel form of multichannel electrical stimulation, termed Sensory Barrage Stimulation (SBS) for the treatment of spasticity affecting the elbow flexor muscles and to compare this with conventional single-channel TENS stimulation. Altogether ten participants with spasticity of the flexor muscles of the elbow of Grade 2 or above on the Modified Ashworth Scale (MAS) were recruited to this crossover double blind randomized trial. The participants received two intervention sessions (SBS and TENS), one week apart in a randomized order. Both interventions were applied over the triceps brachii on the affected arm for a duration of 60 minutes. Spasticity was measured using the MAS. Secondary outcome measures were self-reported change in spasticity, measured on a visual analog scale (VAS, 0-100), and therapist-rated strength of elbow extension and strength of elbow flexion. Measurements were taken immediately before each intervention was applied, immediately after the intervention, and one hour after the intervention. Immediately after stimulation spasticity showed a significant reduction for both TENS and SBS groups assessed by MAS -0.9 ± 0.2 vs. -1.1 ± 0.2 and by VAS -15 ± 3 vs. -31 ± 8. For SBS this improvement in MAS was still present at one hour after the stimulation, but not for TENS. Altogether seven SBS responders and four TENS responders were identified. This study demonstrates the feasibility and practicality of applying the new concept of SBS. Promising results indicate it causes a reduction in spasticity. © 2015 International Neuromodulation Society.

  5. Development of a clinical spasticity scale for evaluation of dogs with chronic thoracolumbar spinal cord injury.

    Science.gov (United States)

    Lewis, Melissa J; Olby, Natasha J

    2017-07-01

    OBJECTIVE To develop a spasticity scale for dogs with chronic deficits following severe spinal cord injury (SCI) for use in clinical assessment and outcome measurement in clinical trials. ANIMALS 20 chronically paralyzed dogs with a persistent lack of hind limb pain perception caused by an acute SCI at least 3 months previously. PROCEDURES Spasticity was assessed in both hind limbs via tests of muscle tone, clonus, and flexor and extensor spasms adapted from human scales. Measurement of patellar clonus duration and flexor spasm duration and degree was feasible. These components were used to create a canine spasticity scale (CSS; overall score range, 0 to 18). Temporal variation for individual dogs and interrater reliability were evaluated. Gait was quantified with published gait scales, and CSS scores were compared with gait scores and clinical variables. Owners were questioned regarding spasticity observed at home. RESULTS 20 dogs were enrolled: 18 with no apparent hind limb pain perception and 2 with blunted responses; 5 were ambulatory. Testing was well tolerated, and scores were repeatable between raters. Median overall CSS score was 7 (range, 3 to 11), and flexor spasms were the most prominent finding. Overall CSS score was not associated with age, SCI duration, lesion location, or owner-reported spasticity. Overall CSS score and flexor spasm duration were associated with gait scores. CONCLUSIONS AND CLINICAL RELEVANCE The CSS could be used to quantify hind limb spasticity in dogs with chronic thoracolumbar SCI and might be a useful outcome measure. Flexor spasms may represent an integral part of stepping in dogs with severe SCI.

  6. Simultaneous characterizations of reflex and nonreflex dynamic and static changes in spastic hemiparesis

    Science.gov (United States)

    Chung, Sun G.; Ren, Yupeng; Liu, Lin; Roth, Elliot J.; Rymer, W. Zev

    2013-01-01

    This study characterizes tonic and phasic stretch reflex and stiffness and viscosity changes associated with spastic hemiparesis. Perturbations were applied to the ankle of 27 hemiparetic and 36 healthy subjects under relaxed or active contracting conditions. A nonlinear delay differential equation model characterized phasic and tonic stretch reflex gains, elastic stiffness, and viscous damping. Tendon reflex was characterized with reflex gain and threshold. Reflexively, tonic reflex gain was increased in spastic ankles at rest (P hemiparesis may help to evaluate and treat them more effectively. PMID:23636726

  7. Asphyxia-related risk factors and their timing in spastic cerebral palsy

    DEFF Research Database (Denmark)

    Nielsen, Lene F.; Schendel, Diana; Grove, Jakob

    2008-01-01

    Objective To investigate the association of asphyxia-related conditions (reducing blood flow or blood oxygen levels in the fetus) with spastic cerebral palsy (CP) considering different gestational age groups and the timing of risk. Design Population-based case-control study. Setting Danish Cerebral...... Palsy Register in eastern Denmark and Danish Medical Birth Register. Population or Sample 271 singletons with spastic CP and 217 singleton controls, frequency matched by gestational age group, born 1982-1990 in eastern Denmark. Methods Data were abstracted from medical records, and a priori asphyxia...

  8. Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish

    Directory of Open Access Journals (Sweden)

    Yang Song

    2013-03-01

    Mutations in patatin-like phospholipase domain containing 6 (PNPLA6, also known as neuropathy target esterase (NTE or SPG39, cause hereditary spastic paraplegia (HSP. Although studies on animal models, including mice and Drosophila, have extended our understanding of PNPLA6, its roles in neural development and in HSP are not clearly understood. Here, we describe the generation of a vertebrate model of PNPLA6 insufficiency using morpholino oligonucleotide knockdown in zebrafish (Danio rerio. Pnpla6 knockdown resulted in developmental abnormalities and motor neuron defects, including axon truncation and branching. The phenotypes in pnpla6 knockdown morphants were rescued by the introduction of wild-type, but not mutant, human PNPLA6 mRNA. Our results also revealed the involvement of BMP signaling in pnpla6 knockdown phenotypes. Taken together, these results demonstrate an important role of PNPLA6 in motor neuron development and implicate overexpression of BMP signaling as a possible mechanism underlying the developmental defects in pnpla6 morphants.

  9. Time-dependent, bidirectional, anti- and pro-spinal hyper-reflexia and muscle spasticity effect after chronic spinal glycine transporter 2 (GlyT2) oligonucleotide-induced downregulation.

    Science.gov (United States)

    Kamizato, Kota; Marsala, Silvia; Navarro, Michael; Kakinohana, Manabu; Platoshyn, Oleksandr; Yoshizumi, Tetsuya; Lukacova, Nadezda; Wancewicz, Ed; Powers, Berit; Mazur, Curt; Marsala, Martin

    2018-07-01

    The loss of local spinal glycine-ergic tone has been postulated as one of the mechanisms contributing to the development of spinal injury-induced spasticity. In our present study using a model of spinal transection-induced muscle spasticity, we characterize the effect of spinally-targeted GlyT2 downregulation once initiated at chronic stages after induction of spasticity in rats. In animals with identified hyper-reflexia, the anti-spasticity effect was studied after intrathecal treatment with: i) glycine, ii) GlyT2 inhibitor (ALX 1393), and iii) GlyT2 antisense oligonucleotide (GlyT2-ASO). Administration of glycine and GlyT2 inhibitor led to significant suppression of spasticity lasting for a minimum of 45-60 min. Treatment with GlyT2-ASO led to progressive suppression of muscle spasticity seen at 2-3 weeks after treatment. Over the subsequent 4-12 weeks, however, the gradual appearance of profound spinal hyper-reflexia was seen. This was presented as spontaneous or slight-tactile stimulus-evoked muscle oscillations in the hind limbs (but not in upper limbs) with individual hyper-reflexive episodes lasting between 3 and 5 min. Chronic hyper-reflexia induced by GlyT2-ASO treatment was effectively blocked by intrathecal glycine. Immunofluorescence staining and Q-PCR analysis of the lumbar spinal cord region showed a significant (>90%) decrease in GlyT2 mRNA and GlyT2 protein. These data demonstrate that spinal GlyT2 downregulation provides only a time-limited therapeutic benefit and that subsequent loss of glycine vesicular synthesis resulting from chronic GlyT2 downregulation near completely eliminates the tonic glycine-ergic activity and is functionally expressed as profound spinal hyper-reflexia. These characteristics also suggest that chronic spinal GlyT2 silencing may be associated with pro-nociceptive activity. Copyright © 2018 Elsevier Inc. All rights reserved.

  10. Sexualidade e paraplegia: o dito, o explícito e o oculto Sexualydad y paraplejía: lo dicho, lo explícito y lo oculto Sexuality and paraplegics: the saying, the explicit and the occult

    OpenAIRE

    Inacia Sátiro Xavier de França; Adriana de Freitas Chaves

    2005-01-01

    INTRODUÇÃO: A intenção de contribuir para o desenvolvimento de ações educativas que desmistifiquem mitos e tabus relacionados a sexualidade da pessoa portadora de paraplegia e melhorar a qualidade de vida desse tipo de cliente motivou a seleção do objeto "sexualidade da mulher portadora de paraplegia". OBJETIVO: Compreender a construção de sentidos das mulheres portadoras de paraplegia acerca da sexualidade e relatar as barreiras enfrentadas por estas mulheres para vivenciar sua sexualidade. ...

  11. Sôbre as paraplegias cifoscolióticas: tratamento neurocirúrgico

    Directory of Open Access Journals (Sweden)

    Roberto Melaragno Filho

    1951-03-01

    Full Text Available Ao que julgam os autores, o caso que ora registram representam o primeiro caso brasileiro de cifoscoliose congênita tratada neurocirurgicamente. Estudaram inicialmente as diversas doutrinas explicativas do sofrimento medular nessa enfermidade. Insistiram no papel da compressão da medula entre as duas faces da dura-máter, anterior e posterior: a primeira aplicada contra a convexidade óssea e a segunda, fortemente distendida pelas raízes nervosas, contra a face posterior da medula. A maior incidência de fenômenos medulares entre os 15 e 20 anos de vida, época do maior crescimento do indivíduo, comprova o papel desempenhado, em sua patogenia, pelo estiramento longitudinal da dura-máter, sòlidamente fixada no orifício magno e no sacro. Finalmente, a torção da coluna e a possibilidade de compressão de vasos sangüíneos, com conseqüentes mielomalácias, deve ser considerada diante de cada caso. Nesses fundamentos baseia-se a indicação da abertura da dura-máter e sua não suturação após a laminectomia. Nos casos da literatura em que a intervenção cirúrgica se limitou à abertura do canal raquidiano, os resultados foram pouco brilhantes. Registraram os autores a observação de um jovem de 17 anos, que, ano e meio antes, ao suportar a coluna um esforço exagerado, começou a apresentar dores lombares, as quais motivaram a indicação de um colete de gèsso. Entretanto, pouco a pouco, foram-se desenvolvendo sinais de déficit motor e sensitivo nos membros inferiores. Ao exame, foi observada uma paraplegia crural absoluta, sendo possíveis, apenas, pequenos movimentos de flexão e extensão dos grandes artelhos. Reflexos profundos exaltados, trepidação e clono nos membros inferiores; sinal de Babinski bilateral; hipoestesia táctil, térmica e dolorosa até T8; anestesia profunda nos membros inferiores. Cifose dorsal alta pronunciada, com escoliose dorsal média dextro-convexa e ligeira escoliose dorsolombar sinistro-convexa. O

  12. Modified Ashworth Scale (MAS) Model based on Clinical Data Measurement towards Quantitative Evaluation of Upper Limb Spasticity

    Science.gov (United States)

    Puzi, A. Ahmad; Sidek, S. N.; Mat Rosly, H.; Daud, N.; Yusof, H. Md

    2017-11-01

    Spasticity is common symptom presented amongst people with sensorimotor disabilities. Imbalanced signals from the central nervous systems (CNS) which are composed of the brain and spinal cord to the muscles ultimately leading to the injury and death of motor neurons. In clinical practice, the therapist assesses muscle spasticity using a standard assessment tool like Modified Ashworth Scale (MAS), Modified Tardiue Scale (MTS) or Fugl-Meyer Assessment (FMA). This is done subjectively based on the experience and perception of the therapist subjected to the patient fatigue level and body posture. However, the inconsistency in the assessment is prevalent and could affect the efficacy of the rehabilitation process. Thus, the aim of this paper is to describe the methodology of data collection and the quantitative model of MAS developed to satisfy its description. Two subjects with MAS of 2 and 3 spasticity levels were involved in the clinical data measurement. Their level of spasticity was verified by expert therapist using current practice. Data collection was established using mechanical system equipped with data acquisition system and LABVIEW software. The procedure engaged repeated series of flexion of the affected arm that was moved against the platform using a lever mechanism and performed by the therapist. The data was then analyzed to investigate the characteristics of spasticity signal in correspondence to the MAS description. Experimental results revealed that the methodology used to quantify spasticity satisfied the MAS tool requirement according to the description. Therefore, the result is crucial and useful towards the development of formal spasticity quantification model.

  13. Best seating condition in children with spastic cerebral palsy : One type does not fit all

    NARCIS (Netherlands)

    Angsupaisal, Mattana; Dijkstra, Linze-Jaap; la Bastide-van Gemert, Sacha; van Hoorn, Jessika F.; Burger, Karine; Maathuis, Carel G. B.; Hadders-Algra, Mijna

    2017-01-01

    Background: The effect of forward-tilting of the seat surface and foot-support in children with spastic cerebral palsy (CP) is debated. Aim: To assess the effect of forward-tilting of the seat surface and foot-support in children with CP on kinematic head stability and reaching. Methods: Nineteen

  14. Caregiver burden, productivity loss, and indirect costs associated with caring for patients with poststroke spasticity

    Science.gov (United States)

    Ganapathy, Vaidyanathan; Graham, Glenn D; DiBonaventura, Marco D; Gillard, Patrick J; Goren, Amir; Zorowitz, Richard D

    2015-01-01

    Objective Many stroke survivors experience poststroke spasticity and the related inability to perform basic activities, which necessitates patient management and treatment, and exerts a considerable burden on the informal caregiver. The current study aims to estimate burden, productivity loss, and indirect costs for caregivers of stroke survivors with spasticity. Methods Internet survey data were collected from 153 caregivers of stroke survivors with spasticity including caregiving time and difficulty (Oberst Caregiver Burden Scale), Work Productivity and Activity Impairment measures, and caregiver and patient characteristics. Fractional logit models examined predictors of work-related restriction, and work losses were monetized (2012 median US wages). Results Mean Oberst Caregiver Burden Scale time and difficulty scores were 46.1 and 32.4, respectively. Employed caregivers (n=71) had overall work restriction (32%), absenteeism (9%), and presenteeism (27%). Caregiver characteristics, lack of nursing home coverage, and stroke survivors’ disability predicted all work restriction outcomes. The mean total lost-productivity cost per employed caregiver was US$835 per month (>$10,000 per year; 72% attributable to presenteeism). Conclusion These findings demonstrate the substantial burden of caring for stroke survivors with spasticity illustrating the societal and economic impact of stroke that extends beyond the stroke survivor. PMID:26609225

  15. The early markers for later dyskinetic cerebral palsy are different from those for spastic cerebral palsy

    NARCIS (Netherlands)

    Einspieler, C; Cioni, G; Paolicelli, PB; Bos, AF; Dressler, A; Ferrari, F; Roversi, MF; Prechtl, HFR

    Qualitative abnormalities of spontaneous motor activity in new-borns and young infants are early predictive markers for later spastic cerebral palsy. Aim of this research was to identify which motor patterns may be specific for later dyskinetic cerebral palsy. In a large, prospectively performed

  16. On Denny-Brown's 'spastic dystonia' - What is it and what causes it?

    DEFF Research Database (Denmark)

    Lorentzen, Jakob; Pradines, Maud; Gracies, Jean-Michel

    2018-01-01

    In this review, we will work around two simple definitions of two different entities, which most often co-exist in patients with lesions to central motor pathways: Spasticity is “Enhanced excitability of velocity-dependent responses to phasic stretch at rest”, which will not be the subject of thi...

  17. Reproducibility and validity of video screen measurements of gait in children with spastic cerebral palsy.

    NARCIS (Netherlands)

    Grunt, S.; van Kampen, P.M.; van der Krogt, M.M.; Brehm, M.A.; Doorenbosch, C.A.M.; Becher, J.G.

    2010-01-01

    Purpose: To determine the reproducibility and validity of video screen measurement (VSM) of sagittal plane joint angles during gait. Methods: 17 children with spastic cerebral palsy walked on a 10. m walkway. Videos were recorded and 3d-instrumented gait analysis was performed. Two investigators

  18. Reproducibility and validity of video screen measurements of gait in children with spastic cerebral palsy

    NARCIS (Netherlands)

    Grunt, Sebastian; van Kampen, Petra J.; van der Krogt, Marjolein M.; Brehm, Merel-Anne; Doorenbosch, Caroline A. M.; Becher, Jules G.

    2010-01-01

    PURPOSE: To determine the reproducibility and validity of video screen measurement (VSM) of sagittal plane joint angles during gait. METHODS: 17 children with spastic cerebral palsy walked on a 10m walkway. Videos were recorded and 3d-instrumented gait analysis was performed. Two investigators

  19. Efficacy of intrathecal baclofen delivery in the management of severe spasticity in upper motor neuron syndrome

    NARCIS (Netherlands)

    Rietman, Johan Swanik; Geertzen, J.H.B.

    In the treatment of patients with severe spasticity, intrathecal administration of baclofen (ITB) was introduced in order to exert its effect directly at the receptor sites in the spinal cord, and have better therapeutic efficacy with smaller drug doses compared to oral antispasmodic medications.

  20. Postural control in children with spastic diplegia : Muscle activity during perturbations in sitting

    NARCIS (Netherlands)

    Brogren, E; HaddersAlgra, M; Forssberg, H

    To clarify the neural mechanisms controlling equilibrium during sitting, and the implications for the optimal sitting position for children with CP, automatic postural adjustments after perturbations of the support surface during sitting were investigated in seven children with spastic diplegia and

  1. Classification of Topographical Pattern of Spasticity in Cerebral Palsy: A Registry Perspective

    Science.gov (United States)

    Reid, Susan M.; Carlin, John B.; Reddihough, Dinah S.

    2011-01-01

    This study used data from a population-based cerebral palsy (CP) registry and systematic review to assess the amount of heterogeneity between registries in topographical patterns when dichotomised into unilateral (USCP) and bilateral spastic CP (BSCP), and whether the terms diplegia and quadriplegia provide useful additional epidemiological…

  2. The benefits of a comprehensive rehabilitation program in patients diagnosed with spastic quadriplegia.

    Science.gov (United States)

    Rogoveanu, O C; Tuțescu, N C; Kamal, D; Alexandru, D O; Kamal, C; Streba, C T; Trăistaru, M R

    2016-01-01

    Spastic quadriplegia has as an etiopathogenic substrate, a non-progressive brain lesion; however, the clinical manifestations of the disease evolve over time. Children diagnosed with spastic quadriplegia show a variety of symptoms in different areas: sensorimotor, emotional, cognitive, and social. The purpose of this study was to assess the functional status in patients diagnosed with spastic quadriplegia, who followed a complex medical rehabilitation program, during a year, and highlight the importance of using physical and kinetic techniques in improving their status. A total of 10 children diagnosed with spastic quadriplegia were included in the study and the Gross Motor Function Classification System (GMFCS) and manual ability classification system (MACS) were used to evaluate the functionality status of each patient. Every patient was evaluated initially (T1), after six months of program (T2), and after they completed the study. All the children were originally monitored daily, for 5 days per week for a period of one month, then two times a week for a year. A statistically significant difference regarding the modification of the GMFCS and MACS stage was found, which occurred between the first and the third evaluation. The inverse correlation of the statistical significance between the ages of patients and the decrease in GMFCS or MACS stage was highlighted; the younger the patient, the more the scale decreased. A direct link between the gross motor function and the manual ability was noticed. Applying a complex rehabilitation program has proven efficient by improving both the gross motor functionality and the manual ability.

  3. Hamstring contractures in children with spastic cerebral palsy result from a stiffer extracellular matrix and increased in vivo sarcomere length.

    Science.gov (United States)

    Smith, Lucas R; Lee, Ki S; Ward, Samuel R; Chambers, Henry G; Lieber, Richard L

    2011-05-15

    Cerebral palsy (CP) results from an upper motoneuron (UMN)lesion in the developing brain. Secondary to the UMNl esion,which causes spasticity, is a pathological response by muscle - namely, contracture. However, the elements within muscle that increase passive mechanical stiffness, and therefore result in contracture, are unknown. Using hamstring muscle biopsies from pediatric patients with CP (n =33) and control (n =19) patients we investigated passive mechanical properties at the protein, cellular, tissue and architectural levels to identify the elements responsible for contracture. Titin isoform, the major load-bearing protein within muscle cells, was unaltered in CP. Correspondingly, the passive mechanics of individual muscle fibres were not altered. However, CP muscle bundles, which include fibres in their constituent ECM, were stiffer than control bundles. This corresponded to an increase in collagen content of CP muscles measured by hydroxyproline assay and observed using immunohistochemistry. In vivo sarcomere length of CP muscle measured during surgery was significantly longer than that predicted for control muscle. The combination of increased tissue stiffness and increased sarcomere length interact to increase stiffness greatly of the contracture tissue in vivo. These findings provide evidence that contracture formation is not the result of stiffening at the cellular level, but stiffening of the ECM with increased collagen and an increase of in vivo sarcomere length leading to higher passive stresses.

  4. Disturbances of motor unit rate modulation are prevalent in muscles of spastic-paretic stroke survivors

    Science.gov (United States)

    Heckman, C. J.; Powers, R. K.; Rymer, W. Z.; Suresh, N. L.

    2014-01-01

    Stroke survivors often exhibit abnormally low motor unit firing rates during voluntary muscle activation. Our purpose was to assess the prevalence of saturation in motor unit firing rates in the spastic-paretic biceps brachii muscle of stroke survivors. To achieve this objective, we recorded the incidence and duration of impaired lower- and higher-threshold motor unit firing rate modulation in spastic-paretic, contralateral, and healthy control muscle during increases in isometric force generated by the elbow flexor muscles. Impaired firing was considered to have occurred when firing rate became constant (i.e., saturated), despite increasing force. The duration of impaired firing rate modulation in the lower-threshold unit was longer for spastic-paretic (3.9 ± 2.2 s) than for contralateral (1.4 ± 0.9 s; P unit was also longer for the spastic-paretic (1.7 ± 1.6 s) than contralateral (0.3 ± 0.3 s; P = 0.007) and control (0.1 ± 0.2 s; P = 0.009) muscles. This impaired firing rate of the lower-threshold unit arose, despite an increase in the overall descending command, as shown by the recruitment of the higher-threshold unit during the time that the lower-threshold unit was saturating, and by the continuous increase in averages of the rectified EMG of the biceps brachii muscle throughout the rising phase of the contraction. These results suggest that impairments in firing rate modulation are prevalent in motor units of spastic-paretic muscle, even when the overall descending command to the muscle is increasing. PMID:24572092

  5. Intramuscular Connective Tissue Differences in Spastic and Control Muscle: A Mechanical and Histological Study

    Science.gov (United States)

    de Bruin, Marije; Smeulders, Mark J.; Kreulen, Michiel; Huijing, Peter A.; Jaspers, Richard T

    2014-01-01

    Cerebral palsy (CP) of the spastic type is a neurological disorder characterized by a velocity-dependent increase in tonic stretch reflexes with exaggerated tendon jerks. Secondary to the spasticity, muscle adaptation is presumed to contribute to limitations in the passive range of joint motion. However, the mechanisms underlying these limitations are unknown. Using biopsies, we compared mechanical as well as histological properties of flexor carpi ulnaris muscle (FCU) from CP patients (n = 29) and healthy controls (n = 10). The sarcomere slack length (mean 2.5 µm, SEM 0.05) and slope of the normalized sarcomere length-tension characteristics of spastic fascicle segments and single myofibre segments were not different from those of control muscle. Fibre type distribution also showed no significant differences. Fibre size was significantly smaller (1933 µm2, SEM 190) in spastic muscle than in controls (2572 µm2, SEM 322). However, our statistical analyses indicate that the latter difference is likely to be explained by age, rather than by the affliction. Quantities of endomysial and perimysial networks within biopsies of control and spastic muscle were unchanged with one exception: a significant thickening of the tertiary perimysium (3-fold), i.e. the connective tissue reinforcement of neurovascular tissues penetrating the muscle. Note that this thickening in tertiary perimysium was shown in the majority of CP patients, however a small number of patients (n = 4 out of 23) did not have this feature. These results are taken as indications that enhanced myofascial loads on FCU is one among several factors contributing in a major way to the aetiology of limitation of movement at the wrist in CP and the characteristic wrist position of such patients. PMID:24977410

  6. Caregiver burden, productivity loss, and indirect costs associated with caring for patients with poststroke spasticity

    Directory of Open Access Journals (Sweden)

    Ganapathy V

    2015-11-01

    Full Text Available Vaidyanathan Ganapathy,1 Glenn D Graham,2 Marco D DiBonaventura,3 Patrick J Gillard,1 Amir Goren,3 Richard D Zorowitz41Allergan, Irvine, CA, USA; 2Department of Veterans Affairs, San Francisco, CA, USA; 3Health Outcomes Practice, Kantar Health, New York, NY, USA; 4Johns Hopkins Bayview Medical Center, Baltimore, MD, USAObjective: Many stroke survivors experience poststroke spasticity and the related inability to perform basic activities, which necessitates patient management and treatment, and exerts a considerable burden on the informal caregiver. The current study aims to estimate burden, productivity loss, and indirect costs for caregivers of stroke survivors with spasticity.Methods: Internet survey data were collected from 153 caregivers of stroke survivors with spasticity including caregiving time and difficulty (Oberst Caregiver Burden Scale, Work Productivity and Activity Impairment measures, and caregiver and patient characteristics. Fractional logit models examined predictors of work-related restriction, and work losses were monetized (2012 median US wages.Results: Mean Oberst Caregiver Burden Scale time and difficulty scores were 46.1 and 32.4, respectively. Employed caregivers (n=71 had overall work restriction (32%, absenteeism (9%, and presenteeism (27%. Caregiver characteristics, lack of nursing home coverage, and stroke survivors’ disability predicted all work restriction outcomes. The mean total lost-productivity cost per employed caregiver was US$835 per month (>$10,000 per year; 72% attributable to presenteeism.Conclusion: These findings demonstrate the substantial burden of caring for stroke survivors with spasticity illustrating the societal and economic impact of stroke that extends beyond the stroke survivor.Keywords: burden, caregiver, productivity, spasticity, stroke

  7. Functional electrical stimulation of the ankle dorsiflexors during walking in spastic cerebral palsy: a systematic review.

    Science.gov (United States)

    Moll, Irene; Vles, Johannes S H; Soudant, Dan L H M; Witlox, Adhiambo M A; Staal, Heleen M; Speth, Lucianne A W M; Janssen-Potten, Yvonne J M; Coenen, Marcel; Koudijs, Suzanne M; Vermeulen, R Jeroen

    2017-12-01

    To assess the effect of functional electrical stimulation (FES) of ankle dorsiflexors in children and adolescents with spastic cerebral palsy (CP) during walking. A systematic review was performed using the American Academy of Cerebral Palsy and Developmental Medicine methodology and the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Six databases were searched for studies applying interventions to patients aged younger than 20 years. Outcomes were classified according to the International Classification of Functioning, Disability and Health (ICF). Seven hundred and eighty abstracts were found, 35 articles were fully screened, and 14 articles were used for analysis. Only five articles (three studies) were of level I to III evidence. At ICF participation and activity level, there is limited evidence for a decrease in self-reported frequency of toe-drag and falls. At ICF body structure and function level, there is clear evidence (I-III) that FES increased (active) ankle dorsiflexion angle, strength, and improved selective motor control, balance, and gait kinematics, but decreased walking speed. Adverse events include skin irritation, toleration, and acceptation issues. There are insufficient data supporting functional gain by FES on activity and participation level. However, evidence points towards a role for FES as an alternative to orthoses in children with spastic CP. Effects of functional electrical stimulation (FES) point towards a potential role as an alternative to orthoses for patients with spastic cerebral palsy (CP). Some evidence for a decrease in self-reported frequency of toe-drag and falls with the use of FES in spastic CP. Limited evidence for improvements in activity and participation in patients with spastic CP using FES. © 2017 Mac Keith Press.

  8. Gait asymmetry, ankle spasticity, and depression as independent predictors of falls in ambulatory stroke patients.

    Directory of Open Access Journals (Sweden)

    Ta-Sen Wei

    Full Text Available Falls are the leading cause of injury in stroke patients. However, the cause of a fall is complicated, and several types of risk factors are involved. Therefore, a comprehensive model to predict falls with high sensitivity and specificity is needed.This study was a prospective study of 112 inpatients in a rehabilitation ward with follow-up interviews in patients' homes. Evaluations were performed 1 month after stroke and included the following factors: (1 status of cognition, depression, fear of fall and limb spasticity; (2 functional assessments [walking velocity and the Functional Independence Measure (FIM]; and (3 objective, computerized gait and balance analyses. The outcome variable was the number of accidental falls during the 6-month follow-up period after baseline measurements.The non-faller group exhibited significantly better walking velocity and FIM scale compared to the faller group (P < .001. The faller group exhibited higher levels of spasticity in the affected limbs, asymmetry of gait parameters in single support (P < .001, double support (P = .027, and step time (P = .003, and lower stability of center of gravity in the medial-lateral direction (P = .008. Psychological assessments revealed that the faller group exhibited more severe depression and lower confidence without falling. A multivariate logistic regression model identified three independent predictors of falls with high sensitivity (82.6% and specificity (86.5%: the asymmetry ratio of single support [adjusted odds ratio, aOR = 2.2, 95% CI (1.2-3.8], the level of spasticity in the gastrocnemius [aOR = 3.2 (1.4-7.3], and the degree of depression [aOR = 1.4 (1.2-1.8].This study revealed depression, in additional to gait asymmetry and spasticity, as another independent factor for predicting falls. These results suggest that appropriate gait training, reduction of ankle spasticity, and aggressive management of depression may be critical to prevent falls in stroke patients.

  9. Surgical correction of scoliosis in children with spastic quadriplegia: benefits, adverse effects, and patient selection.

    Science.gov (United States)

    Legg, Julian; Davies, Evan; Raich, Annie L; Dettori, Joseph R; Sherry, Ned

    2014-04-01

    Cerebral palsy (CP) is a group of nonprogressive syndromes of posture and motor impairment associated with lesions of the immature brain. Spastic quadriplegia is the most severe form with a high incidence of scoliosis, back pain, respiratory compromise, pelvic obliquity, and poor sitting balance. Surgical stabilization of the spine is an effective technique for correcting deformity and restoring sitting posture. The decision to operate in this group of patients is challenging. The aim of this study is to determine the benefits of surgical correction of scoliosis in children with spastic quadriplegia, the adverse effects of this treatment, and what preoperative factors affect patient outcome after surgical correction. A systematic review was undertaken to identify studies describing benefits and adverse effects of surgery in spastic quadriplegia. Factors affecting patient outcome following surgical correction of scoliosis were assessed. Studies involving adults and nonspastic quadriplegia were excluded. A total of 10 case series and 1 prospective and 3 retrospective cohort studies met inclusion criteria. There was significant variation in the overall risk of complications (range, 10.9-70.9%), mortality (range, 2.8-19%), respiratory/pulmonary complications (range, 26.9-57.1%), and infection (range, 2.5-56.8%). Factors associated with a worse outcome were a significant degree of thoracic kyphosis, days in the intensive care unit, and poor nutritional status. Caregivers report a high degree of satisfaction with scoliosis surgery for children with spastic quadriplegia. There is limited evidence of preoperative factors that can predict patient outcome after scoliosis. There is a need for well-designed prospective studies of scoliosis surgery in spastic quadriplegia.

  10. Paraplegia is not a diagnosis: Spinal tuberculosis deserves a place on the clinical radar screen: Awakening call to clinicians

    Directory of Open Access Journals (Sweden)

    Liaqat Ali Chaudhry

    2012-01-01

    Full Text Available Disseminated Tuberculosis(TB occurs through lymphohaematogenous dissemination of M. tuberculosis. Although it is more common in young children and those who are having risk factors like having acquired or innate immunodeficiency, weak immune system being on immunosuppressive treatments; it can also occur in immunocompetent indviduals with heavy load of infection. Inhalation being the commonest mode of entry of the pathogen results in pulmonary tuberculosis being the commonest seat of primary infection,other systems commonly involved as extra-pulmonary sites are lymphnodes, bone, brain, peritonium and genitalia depending on the amount of relative blood supply and lymphatics. We present here case of a young female who was immunocompetent, having fever, progressive lower limb weakness and loss of bowel and bladder control, becoming bed bound, and admitted in our hospital for rehabilitation with a diagnosis of paraplegia.

  11. Bluish Discolouration of Urine Drainage Tube and Bag in a Female Patient with Spina Bifida, Paraplegia, and Suprapubic Cystostomy

    Directory of Open Access Journals (Sweden)

    Subramanian Vaidyanathan

    2007-01-01

    Full Text Available We present a female patient with spina bifida, paraplegia, suprapubic cystostomy, and chronic constipation, who became anxious when she noticed a bluish discolouration of her urine drainage system. Urine microbiology revealed growth of Providencia stuartii and Staphylococcus aureus. There were no systemic features of infection and, therefore, antibiotics were not prescribed for asymptomatic bacteriuria. This patient was advised to change the urine bag every day, and was prescribed senna to facilitate bowel evacuation. She was reassured that bluish discolouration of the urine drainage tube and bag was a transient, benign phenomenon and not indicative of any underlying pathology. Over the next 7 days, the bluish discolouration gradually faded away. Clinical characteristics of patients who are likely to develop this phenomenon and the underlying biochemical mechanism for bluish discolouration of the urine drainage system are discussed in brief.

  12. Transcranial and spinal cord magnetic stimulation in treatment of spasticity: a literature review and meta-analysis.

    Science.gov (United States)

    Korzhova, Julia; Sinitsyn, Dmitry; Chervyakov, Alexander; Poydasheva, Alexandra; Zakharova, Maria; Suponeva, Natalia; Chernikova, Lyudmila; Piradov, Michael

    2018-02-01

    Spasticity is associated with various diseases of the nervous system. Current treatments such as drug therapy, botulinum toxin injections, kinesitherapy, and physiotherapy are not sufficiently effective in a large number of patients. Transcranial magnetic stimulation (TMS) can be considered as an alternative method of treatment. The purpose of this article was to conduct a systematic review and meta-analysis of all available publications assessing the efficacy of repetitive TMS in treatment of spasticity. Search for articles was conducted in databases PubMed, Willey, and Google. Keywords included "TMS", "spasticity", "TMS and spasticity", "non-invasive brain stimulation", and "non-invasive spinal cord stimulation". The difference in scores according to the Modified Ashworth Scale (MAS) for one joint before and after treatment was taken as the effect size. We found 26 articles that examined the TMS efficacy in treatment of spasticity. Meta-analysis included 6 trials comprising 149 patients who underwent real stimulation or simulation. No statistically significant difference in the effect of real and simulated stimulation was found in stroke patients. In patients with spinal cord injury and spasticity, the mean effect size value and the 95% confidence interval were -0.80 and (-1.12, -0.49), respectively, in a group of real stimulation; in the case of simulated stimulation, these parameters were 0.15 and (-0.30, -0.00), respectively. Statistically significant differences between groups of real stimulation and simulation were demonstrated for using high-frequency repetitive TMS or iTBS mode for the M1 area of the spastic leg (P=0.0002). According to the meta-analysis, the statistically significant effect of TMS in the form of reduced spasticity was demonstrated only for the developed due to lesions at the brain stem and spinal cord level. To clarify the amount of the antispasmodic effect of repetitive TMS at other lesion levels, in particular in patients with

  13. The Effects of Exercise with TENS on Spasticity, Balance, and Gait in Patients with Chronic Stroke: A Randomized Controlled Trial

    OpenAIRE

    Park, Junhyuck; Seo, Dongkwon; Choi, Wonjae; Lee, Seungwon

    2014-01-01

    Background Transcutaneous electrical nerve stimulation (TENS) is a useful modality for pain control. TENS has recently been applied to decrease spasticity. The purpose of this study is to determine whether the addition of TENS to an exercise program reduces spasticity and improves balance and gait in chronic stroke patients. Material/Methods This was a single-blinded, multicenter, randomized controlled trial. Thirty-four ambulatory individuals with chronic stroke participated and were randoml...

  14. Somatosensory inputs by application of KinesioTaping: Effects on spasticity, balance, and gait in chronic spinal cord injury

    Directory of Open Access Journals (Sweden)

    Federica eTamburella

    2014-05-01

    Full Text Available Introduction: Leg paralysis, spasticity, reduced inter limb coordination and impaired balance are considered the chief limitations to overground ambulation in subjects with incomplete spinal cord injury (SCI. In the last years KinesioTaping (KT application has been proposed for enhancing sensory inputs, decreasing spasticity via proprioception feedback and relieving abnormal muscle tension. No studies addressed KT technique on SCI subjects: our goal was to analyze effects of ankle joint KT application on spasticity, balance and gait. Material and Methods: A randomized cross-over case control design was used to compare KT and conventional non-elastic silk tape (ST application’s effects in 11 chronic SCI subjects, AIS level D, with soleus/gastrocnemius (S/G muscles’ spasticity , balance and gait impairments. Treatment: 48 hours of either KT or ST treatment was followed after 1 week interval by a reverse protocol. Patient treated with KT were subjected to 48 hours of ST treatment and viceversa. Single Y-stripe of Cure©tape (KT and ST were applied to S and G with 0% stretch. Before and after 48 hours of KT and ST application, clinical data of range of motion (ROM, spasticity, clonus, pain, balance and gait were collected. Stabilometric platform assessment of Centre of Pressure (COP movements, bi-dimensional gait analysis and electromyograpich (EMG activity of S, G, Tibialis Anterior and Extensor Hallicus Lungus muscles were also collected. Results: Only After KT treatment significant effects on spasticity, clonus and COP movements, kinematic gait parameters and EMG activities were recorded. Comparison between KT and ST improvements pointed out significant differences for ROM, spasticity, clonus, pain, COP parameters and most of all kinematic gait data. Discussion: KT short term application reduces spasticity and pain and improves balance and gait performances in chronic incomplete SCI subjects.

  15. Increased lower limb muscle coactivation reduces gait performance and increases metabolic cost in patients with hereditary spastic paraparesis.

    Science.gov (United States)

    Rinaldi, Martina; Ranavolo, Alberto; Conforto, Silvia; Martino, Giovanni; Draicchio, Francesco; Conte, Carmela; Varrecchia, Tiwana; Bini, Fabiano; Casali, Carlo; Pierelli, Francesco; Serrao, Mariano

    2017-10-01

    The aim of this study was to investigate the lower limb muscle coactivation and its relationship with muscles spasticity, gait performance, and metabolic cost in patients with hereditary spastic paraparesis. Kinematic, kinetic, electromyographic and energetic parameters of 23 patients and 23 controls were evaluated by computerized gait analysis system. We computed ankle and knee antagonist muscle coactivation indexes throughout the gait cycle and during the subphases of gait. Energy consumption and energy recovery were measured as well. In addition to the correlation analysis between coactivation indexes and clinical variables, correlations between coactivation indexes and time-distance, kinematic, kinetic, and energetic parameters were estimated. Increased coactivity indexes of both knee and ankle muscles throughout the gait cycle and during the subphases of gait were observed in patients compared with controls. Energetic parameters were significantly higher in patients than in controls. Both knee and ankle muscle coactivation indexes were positively correlated with knee and ankle spasticity (Ashworth score), respectively. Knee and ankle muscle coactivation indexes were both positively correlated with energy consumption and both negatively correlated with energy recovery. Positive correlations between the Ashworth score and lower limb muscle coactivation suggest that abnormal lower limb muscle coactivation in patients with hereditary spastic paraparesis reflects a primary deficit linked to lower limb spasticity. Furthermore, these abnormalities influence the energetic mechanisms during walking. Identifying excessive muscle coactivation may be helpful in individuating the rehabilitative treatments and designing specific orthosis to restrain spasticity. Copyright © 2017 Elsevier Ltd. All rights reserved.

  16. Influence of Botulinum Toxin Therapy on Postural Control and Lower Limb Intersegmental Coordination in Children with Spastic Cerebral Palsy

    Directory of Open Access Journals (Sweden)

    Bernard Dan

    2013-01-01

    Full Text Available Botulinum toxin injections may significantly improve lower limb kinematics in gait of children with spastic forms of cerebral palsy. Here we aimed to analyze the effect of lower limb botulinum toxin injections on trunk postural control and lower limb intralimb (intersegmental coordination in children with spastic diplegia or spastic hemiplegia (GMFCS I or II. We recorded tridimensional trunk kinematics and thigh, shank and foot elevation angles in fourteen 3–12 year-old children with spastic diplegia and 14 with spastic hemiplegia while walking either barefoot or with ankle-foot orthoses (AFO before and after botulinum toxin infiltration according to a management protocol. We found significantly greater trunk excursions in the transverse plane (barefoot condition and in the frontal plane (AFO condition. Intralimb coordination showed significant differences only in the barefoot condition, suggesting that reducing the degrees of freedom may limit the emergence of selective coordination. Minimal relative phase analysis showed differences between the groups (diplegia and hemiplegia but there were no significant alterations unless the children wore AFO. We conclude that botulinum toxin injection in lower limb spastic muscles leads to changes in motor planning, including through interference with trunk stability, but a combination of therapies (orthoses and physical therapy is needed in order to learn new motor strategies.

  17. Influence of post-stroke spasticity on EMG-force coupling and force steadiness in biceps brachii.

    Science.gov (United States)

    Carlyle, Jennilee K; Mochizuki, George

    2018-02-01

    Individuals with spasticity after stroke experience a decrease in force steadiness which can impact function. Alterations in the strength of EMG-force coupling may contribute to the reduction in force steadiness observed in spasticity. The aim was to determine the extent to which force steadiness and EMG-force coupling is affected by post-stroke spasticity. This cross-sectional study involved individuals with upper limb spasticity after stroke. Participants were required to generate and maintain isometric contractions of the elbow flexors at varying force levels. Coefficient of variation of force, absolute force, EMG-force cross-correlation function peak and peak latency was measured from both limbs with surface electromyography and isometric dynamometry. Statistically significant differences were observed between the affected and less affected limbs for all outcome measures. Significant main effects of force level were also observed. Force steadiness was not statistically significantly correlated with EMG-force coupling; however, both force steadiness and absolute force were associated with the level of impairment as measured by the Chedoke McMaster Stroke Assessment Scale. Spasticity after stroke uncouples the relationship between EMG and force and is associated with reduced force steadiness during isometric contractions; however, these features of control are not associated in individuals with spasticity. Copyright © 2017 Elsevier Ltd. All rights reserved.

  18. A single trial of transcutaneous electrical nerve stimulation (TENS) improves spasticity and balance in patients with chronic stroke.

    Science.gov (United States)

    Cho, Hwi-young; In, Tae Sung; Cho, Ki Hun; Song, Chang Ho

    2013-03-01

    Spasticity management is pivotal for achieving functional recovery of stroke patients. The purpose of this study was to investigate the effects of a single trial of transcutaneous electrical nerve stimulation (TENS) on spasticity and balance in chronic stroke patients. Forty-two chronic stroke patients were randomly allocated into the TENS (n = 22) or the placebo-TENS (n = 20) group. TENS stimulation was applied to the gastrocnemius for 60 min at 100 Hz, 200 µs with 2 to 3 times the sensory threshold (the minimal threshold in detecting electrical stimulation for subjects) after received physical therapy for 30 min. In the placebo-TENS group, electrodes were placed but no electrical stimulation was administered. For measuring spasticity, the resistance encountered during passive muscle stretching of ankle joint was assessed using the Modified Ashworth Scale, and the Hand held dynamometer was used to assess the resistive force caused by spasticity. Balance ability was measured using a force platform that measures postural sway generated by postural imbalance. The TENS group showed a significantly greater reduction in spasticity of the gastrocnemius, compared to the placebo-TENS group (p TENS resulted in greater balance ability improvements, especially during the eyes closed condition (p TENS provides an immediately effective means of reducing spasticity and of improving balance in chronic stroke patients. The present data may be useful to establish the standard parameters for TENS application in the clinical setting of stroke.

  19. Proximal femoral resection and articulated hip distraction with an external fixator for the treatment of painful spastic hip dislocations in pediatric patients with spastic quadriplegia.

    Science.gov (United States)

    Lampropulos, Mario; Puigdevall, Miguel H; Zapozko, Daniel; Malvárez, Héctor R

    2008-01-01

    We describe the results obtained with an alternative method of treatment for spastic painful hip dislocations in nonambulatory patients, which consists of a proximal femoral resection with capsular interposition arthroplasty, and the addition of a hinged external fixator for postoperative articulated hip distraction to allow for an immediate upright position and the ability to sit in a wheelchair. We performed this technique in three patients (four hips) with a mean age at the time of surgery of 15 years. Postoperatively, clinical improvement was observed in all four hips, with respect to pain relief, sitting tolerance, perineal care and functional range of motion.

  20. Lower sulfurtransferase detoxification rates of cyanide in konzo—A tropical spastic paralysis linked to cassava cyanogenic poisoning

    Science.gov (United States)

    Kambale, K.J.; Ali, E.R.; Sadiki, N.H.; Kayembe, K.P.; Mvumbi, L.G.; Yandju, D.L.; Boivin, M.J.; Boss, G.R.; Stadler, D.D.; Lambert, W.E.; Lasarev, M.R.; Okitundu, L.A.; Ngoyi, D. Mumba; Banea, J.P.; Tshala-Katumbay, D.D.

    2016-01-01

    Using a matched case-control design, we sought to determine whether the odds of konzo, a distinct spastic paraparesis associated with food (cassava) cyanogenic exposure in the tropics, were associated with lower cyanide detoxification rates (CDR) and malnutrition. Children with konzo (N= 122, 5–17 years of age) were age- and sex-matched with presumably healthy controls (N = 87) and assessed for motor and cognition performances, cyanogenic exposure, nutritional status, and cyanide detoxification rates (CDR). Cyanogenic exposure was ascertained by thiocyanate (SCN) concentrations in plasma (P-SCN) and urine (U-SCN). Children with a height-for-age z-score (HAZNCHS) cyanide to SCN, and expressed as ms/μmol SCN/mg protein or as mmolSCN/ml plasma/min. Mean (SD) U-SCN in children with konzo was 521.9 (353.6) μmol/l and was, significantly higher than 384.6 (223.7) μmol/l in those without konzo. Conditional regression analysis of data for age- and sex- matched case-control pairs showed that konzo was associated with stunting (OR: 5.8; 95% CI: 2.7–12.8; p cyanide in those relying on the cassava as the main source of food. PMID:27246648

  1. The effect of spasticity, sense and walking aids in falls of people after chronic stroke.

    Science.gov (United States)

    Soyuer, Ferhan; Oztürk, Ahmet

    2007-05-15

    To study the effects of spasticity, sensory impairment, and type of walking aid on falls in community dwellers with chronic stroke. Functional Independence Measure (FIM) Instrument, Joint Position Sense Evaluation (JPS), the Rivermead motor assessment scale (RMA), Ashworth Scale, Tinetti Assessment Tool were used to assess 100 cases. Fifty-three of the cases were grouped as nonfallers, 36 as one-time fallers and 11 as repeat fallers. These 3 groups were found to be different from each other in respect to FIM, Tinetti test and RMA (p cane, 41.9% high cane). According to Ordinal logistic regression analysis, it was found that the possibility of fall increased (p fall of the individuals with stroke decreased (p falls, spasticity is also an indicator for chronic stroke patients, as is motor impairment, functional situation, impairment of balance and walking. Sensory impairment, using a walking aid and the type were found to be ineffective.

  2. [Intrathecal baclofen therapy for spastic paraparesis due to aortic dissecting aneurysm; recent progress in treatment strategy].

    Science.gov (United States)

    Nakajima, T; Akagawa, H; Ochiai, T; Hayashi, M; Goto, S; Taira, T; Okada, Y

    2009-11-01

    A 48-year-old man suffered from acute dissection of thoracic aortic aneurysm which eventually led to replacement of the ascending aorta with a tube graft. During this clinical course, circulatory failure in intercostal artery resulted in spinal cord infarction followed by moto-sensory disturbance below Th7 dermatomic area. Seven months later, spasticity with pain in both lower extremities became conspicuous that was uncontrollable by any oral medication. Eventually the patient underwent the implantation of continuous infusion pump for intrathecal baclofen therapy (ITB). The clinical condition was remarkably improved and now has been well controlled. ITB, authorized by Japanese Ministry of Health Labour and Welfare in 2006, has notable therapeutic effects on spasticity derived from any sort of central nervous disorder. More promotive enlightenment if ITB is indispensable for enhancement of its medical benefit in Japan.

  3. Assessing the immediate impact of botulinum toxin injection on impedance of spastic muscle.

    Science.gov (United States)

    Li, Xiaoyan; Shin, Henry; Li, Le; Magat, Elaine; Li, Sheng; Zhou, Ping

    2017-05-01

    This study aimed to investigate the immediate impacts of Botulinum Toxin A (BoNT-A) injections on the inherent electrical properties of spastic muscles using a newly developed electrical impedance myography (EIM) technique. Impedance measures were performed before and after a BoNT-A injection in biceps brachii muscles of 14 subjects with spasticity. Three major impedance variables, resistance (R), reactance (X) and phase angle (θ) were obtained from three different configurations, and were evaluated using the conventional EIM frequency at 50kHz as well as multiple frequency analysis. Statistical analysis demonstrated a significant decrease of resistance in the injected muscles (Multiple-frequency: R pre =25.17±1.94Ohm, R post =23.65±1.63Ohm, ptoxin effects on the muscle. This study demonstrated high sensitivity of the EIM technique in the detection of alterations to muscle composition. Copyright © 2017 IPEM. Published by Elsevier Ltd. All rights reserved.

  4. Sports practice, resilience, body and sexual esteem, and higher educational level are associated with better sexual adjustment in men with acquired paraplegia.

    Science.gov (United States)

    Dos Passos Porto, Isabela; Cardoso, Fernando Luiz; Sacomori, Cinara

    2016-10-12

    To analyse the association of team sports practice and physical and psychological factors with sexual adjustment in men with paraplegia. More specifically, we aimed to compare athletes and non-athletes regarding sexual adjustment, resilience, body and sexual self-esteem, and functional independence. Cross-sectional study with a paired design. The study included 60 men with paraplegia (30 athletes and 30 non-athletes). We used a sociodemographic questionnaire (age, education, and time since injury); a physical and sexual esteem questionnaire; a resilience questionnaire; and Functional Independence Measure (FIM). The dependent variable, sexual adjustment, was determined by the sum of 5 questions about sexual frequency, desire, and satisfaction and physical and psychological adjustment. Data were analysed by using the χ2 test, Wilcoxon's test, Spearman's correlation test, and hierarchical multiple linear regression analysis, with p Athletes had significantly higher sexual adjustment (p = 0.001) and higher body and sexual esteem (p esteem, higher educational level, and higher resilience levels (R2 = 58%). There was an interaction between sports practice and body and sexual esteem (p = 0.024; R2 = 62%). Participation in sports influenced the sexual adjustment of the men with paraplegia, even when controlled for psychological (resilience and body and sexual esteem) and physical (functional independence) aspects.

  5. Insulin resistance in tetraplegia but not in mid-thoracic paraplegia: is the mid-thoracic spinal cord involved in glucose regulation?

    Science.gov (United States)

    Bluvshtein, V; Korczyn, A D; Pinhas, I; Vered, Y; Gelernter, I; Catz, A

    2011-05-01

    Controlled experimental human study. To assess insulin resistance (IR) in tetraplegia and paraplegia, and the role of the spinal cord (SC) in glucose regulation. Laboratory of Spinal Research, Loewenstein Rehabilitation Hospital. Glucose and insulin levels and the heart rate variation spectral components LF (low frequency), HF (high frequency) and LF/HF were studied at supine rest, head-up tilt and after a standard meal in three groups: 13 healthy subjects, 7 patients with T(4)-T(6) paraplegia and 11 patients with C(4)-C(7) tetraplegia. Glucose and insulin increased significantly after the meal in all groups (Pinsulin level tended to accompany increases in LF/HF after the meal in the tetraplegia and control groups but not in the paraplegia group. Post-prandial IR appears in C(4)-C(7) but not in T(4)-T(6) SC injury. The results of the study, combined with previously published findings, are consistent with the hypotheses that IR is related to activation of the sympathetic nervous system, and that below T(4) the mid-thoracic SC is involved in the regulation of glucose and insulin levels.

  6. Effect of joint mobilization on the H Reflex amplitude in people with spasticity

    OpenAIRE

    Pérez Parra, Julio Ernesto; Henao Lema, Claudia Patricia

    2011-01-01

    Objective: To determine the effect of ankle joint mobilization on the H reflex amplitude of thesoleus muscle in people with spasticity. Materials and methods: A quasi-experimental study withcrossover design and simple masking was conducted in 24 randomized subjects to initiate thecontrol or experimental group. Traction and rhythmic oscillation were applied for five minutesto the ankle joint. H wave amplitude changes of Hoffmann reflex (electrical equivalent of themonosynaptic spinal reflex) w...

  7. Delayed finger tapping and cognitive responses in preterm-born male teenagers with mild spastic diplegia.

    Science.gov (United States)

    Gao, Fei; Mei, Xi; Chen, Andrew C N

    2015-02-01

    Information on fine motor and basic cognitive functions in spastic diplegia is sparse in the literature. The aim of this study was to investigate index finger's tapping speed and cognitive functions in categorization and old/new recognition of pictures in patients with mild spastic diplegia. Fifteen preterm-born male teenagers with mild spastic diplegia and 15 healthy male teenagers participated in this study. Finger-tapping tests and cognitive tests were performed on all participants. Outcomes were compared between the two groups. In the finger-tapping tests, the tapping speed was significantly slower in patients than in controls. In the tests of tapping one key persistently and tapping two keys alternately, the reaction time gaps between the left and right digits were larger in patients than in controls. In the categorization tests, the accuracies and reaction times for animal/plant and girl face pictures, but not for boy face pictures, were significantly worse in patients than in controls. In the recognition tests, the accuracies for old/new, animal/plant, and boy/girl face pictures were significantly lower in patients than in controls. The reaction times for old/new, animal/plant, and new face pictures, but not for old face pictures, were significantly longer in patients compared with controls. Our results demonstrate delayed finger tapping and cognitive responses in preterm-born male teenagers with mild spastic diplegia. Our experimental paradigm is sensitive for the study of fine motor and cognitive functions between patients and healthy controls. Copyright © 2015 Elsevier Inc. All rights reserved.

  8. USE OF BOTULINUM TOXIN TYPE A IN THE TREATMENT OF SPASTICITY IN CHILDREN WITH CEREBRAL PALSY

    Directory of Open Access Journals (Sweden)

    Ljiljana Lazić

    2011-06-01

    Full Text Available Cerebral palsy has an incidence of about 1-2 per 1000 live births, and in spite of the progress of neonatal medicine, it seems that the incidence will not subside in the near future. The most important characteristic of cerebral palsy is movement abnormality: spasticity, chorea, athetosis, ataxia, dystonia, as well as their different combinations. About 70% of children who suffer from cerebral palsy also suffer from some form of spasticity. Spasticity is a type of muscle hypertonicity characterized by rapid increase in resistance to passive stretching of muscles. The interest for botulinum toxin application in the treatment of spasticity has dramatically increased in the last 10 years. Botulinum toxin is the most powerful neurotoxin that is found in nature. It is produced by anaerobic bacteria – clostridium botulinum. It is produced in eight serotypes of which type A is the most commonly used. Botulinum toxin blocks neuromuscular transmission and causes irreversible weakness of the treated muscle. It has been used since 1993 in the treatment of cerebral palsy in children. The toxin effect is permanent and it results in irreversible denervation. Functional recovery is possible after 2-4 months, due to sprouting of nerve endings and the formation of new synaptic contacts. Treatment with botulinum toxin is safe. Adverse effects are rare, temporary and completely reversible. Application of botulinum toxin prevents or reduces contractures and deformities, and thus delays or avoids surgical treatment. Yet, physical therapy, which prolongs and improves the effects of botulinum toxin, remains an essential and most important form of therapy in the treatment of children with cerebral palsy.

  9. The contribution of cognition and spasticity to driving performance in multiple sclerosis.

    Science.gov (United States)

    Marcotte, Thomas D; Rosenthal, Theodore J; Roberts, Erica; Lampinen, Sara; Scott, J Cobb; Allen, R Wade; Corey-Bloom, Jody

    2008-09-01

    To examine the independent and combined impact of cognitive dysfunction and spasticity on driving tasks involving high cognitive workload and lower-limb mobility in persons with multiple sclerosis (MS). Single-visit cohort study. Clinical research center. Participants included 17 drivers with MS and 14 referent controls. The group with MS exhibited a broad range of cognitive functioning and disability. Of the 17 patients with MS, 8 had significant spasticity in the knee used to manipulate the accelerator and brake pedals (based on the Modified Ashworth Scale). Not applicable. A brief neuropsychologic test battery and 2 driving simulations. Simulation 1 required participants to maintain a constant speed and lane position while attending to a secondary task. Simulation 2 required participants to adjust their speed to accelerations and decelerations of a lead car in front of them. Patients with MS showed greater variability in lane position (effect size, g=1.30), greater difficulty in maintaining a constant speed (g=1.25), and less ability to respond to lead car speed changes (g=1.85) compared with controls. Within the MS group, in a multivariate model that included neuropsychologic and spasticity measures, cognitive functioning was the strongest predictor of difficulty in maintaining lane position during the divided attention task and poor response time to lead car speed changes, whereas spasticity was associated with reductions in accuracy of tracking the lead car movements and speed maintenance. In this preliminary study, cognitive and physical impairments associated with MS were related to deficits in specific components of simulated driving. Assessment of these factors may help guide the clinician regarding the types of driving behaviors that would put patients with MS at an increased risk for an automobile crash.

  10. Progression of scoliosis in patients with spastic quadriplegia after the insertion of an intrathecal baclofen pump.

    Science.gov (United States)

    Ginsburg, Glen M; Lauder, Anthony J

    2007-11-15

    Medical and radiographic review of 19 consecutive patients with spastic quadriplegia before and after intrathecal baclofen pump insertion with special attention paid to progression of scoliosis. Many orthopedic surgeons who treat spastic quadriplegic patients have noticed a trend of marked scoliosis progression after the administration of intrathecal baclofen (ITB) via subcutaneous pump and catheter. The purpose of this study is to quantify scoliosis progression in this patient population before and after baclofen administration and compare this to published natural history data. The authors had noted rapid progression of scoliosis in spastic quadriplegic patients after intrathecal baclofen pump insertion. This had been noted at other centers, but no significant statistical analysis had been done comparing prepump to postpump scoliosis progression in these patients. To document the magnitude and rate of scoliosis progressions after the placement of an ITB pump, the charts and radiographs of 19 consecutive nonambulatory patients with spastic quadriplegia and an ITB pump were reviewed. To document the rate of scoliosis progression, each patient had at least 2 pre and 2 postpump insertion spinal radiographs made. All radiographs were made with the patients in the supine position without orthoses. A board-certified orthopedic surgeon reviewed these radiographs. Skeletal maturity was assessed using Risser grading. Catheter tip location and rate of baclofen administration were recorded. For 19 patients with complete radiographic data, average Cobb angles were 10.2 degrees before pump insertion and 25 degrees at an average of 20.9 months after pump insertion (P quadriplegia and ITB pump. The authors are now performing spinal fusions for curves that exceed 40 degrees to 50 degrees in the presence of an ITB pump as recommended by previous reviews of scoliosis and accompanying quadriplegia.

  11. Evaluation of Spasticity Variations at the Elbow Joint of CVA Patients According to the Biomechanical Indices

    Directory of Open Access Journals (Sweden)

    Nima Soleimanzadeh-Ardabili

    2013-10-01

    Full Text Available Objective: The goal of the present study was to evaluate spasticity variations by increase the velocity of motion and MAS value in the elbow flexor and extensor muscles at extension and flexion of CVA patients elbow joint according to the biomechanical indices. Materials & Methods: Fifteen adult patients with a history of stroke and upper-extremity spasticity volunteered to participate in this study and fifteen healthy subjects were recruited in order to establish the control group. The degree of spasticity was evaluated for each patient using the MAS. CPM tests were imposed in elbow extension and flexion and the biomechanical indices were calculated at each of the following velocities: 15, 45, 75 and 120 º/s. Results: It seemed a regular increment of the viscoelastic and viscose stiffness indices by increasing the velocity of motion and the rate of MAS value in both extension and flexion in all test groups and also there was significant regular increment of elastic stiffness index by increasing the velocity in both extension and flexion between the control group and group 1 and also irregular increment between group1 and group 2 and 3 and also the effect of mentioned index was decreased at higher level of MAS. Conclusion: it seemed the more effect of elastic stiffness in spasticity in CVA patients at lower level of MAS and more effect of viscose stiffness in higher level of MAS and also results showed the increment of viscose stiffness by increment of speed of motion and the rate of MAS.

  12. Clinical experience with THC:CBD oromucosal spray in patients with multiple sclerosis-related spasticity.

    Science.gov (United States)

    Koehler, Jürgen; Feneberg, Wolfgang; Meier, Martin; Pöllmann, Walter

    2014-09-01

    This detailed medical charts' data collection study conducted at a multiple sclerosis (MS) clinic in Germany evaluated the effectiveness of tetrahydrocannabinol (THC)/cannabidiol (CBD) oromucosal spray in patients with resistant MS spasticity. Over a 15-month timeframe, THC:CBD spray was initiated in 166 patients. Mean follow-up was 9 months. In all, 120 patients remained on treatment for a response rate of 72%. THC:CBD spray was used as add-on therapy in 95 patients and as monotherapy in 25 patients to achieve best-possible therapeutic results. Among responders, the mean spasticity 0-10 numerical rating scale (NRS) score decreased by 57%, from 7.0 before treatment to 3.0 within 10 days of starting THC:CBD spray. The mean dosage was 4 sprays/day. Most patients who withdrew from treatment (40/46) had been receiving THC:CBD spray for less than 60 days. Main reasons for treatment discontinuation were: adverse drug reactions, mainly dizziness, fatigue and oral discomfort (23 patients; 13.9%); lack of efficacy (14 patients; 8.4%); or need for a baclofen pump (9 patients; 5.4%). No new safety signals were noted with THC:CBD spray during the evaluation period. In this routine clinical practice setting at an MS clinic in Germany, THC:CBD spray was effective and well tolerated as add-on therapy or as monotherapy in a relevant proportion of patients with resistant MS spasticity.

  13. Effects of hippotherapy on gait parameters in children with bilateral spastic cerebral palsy.

    Science.gov (United States)

    Kwon, Jeong-Yi; Chang, Hyun Jung; Lee, Ji Young; Ha, Yumi; Lee, Peter K; Kim, Yun-Hee

    2011-05-01

    To evaluate the effects of hippotherapy on temporospatial parameters and pelvic and hip kinematics of gait in children with bilateral spastic cerebral palsy. Nonrandomized prospective controlled trial. Outpatient therapy center. Children (N=32) with bilateral spastic cerebral palsy, Gross Motor Function Classification System level 1 or 2. Hippotherapy (30 min twice weekly for 8 consecutive weeks). Temporospatial parameters and pelvic and hip kinematic parameters in 3-dimensional motion analysis, Gross Motor Function Measure (GMFM)-88, and score for dimensions D (standing) and E (walking, running, jumping) of the GMFM, GMFM-66, and Pediatric Balance Scale (PBS). Hippotherapy significantly improved walking speed, stride length, and pelvic kinematics (average pelvic anterior tilt, pelvic anterior tilt at initial contact, pelvic anterior tilt at terminal stance). Scores for dimension E of the GMFM, GMFM-66 and PBS also increased. Hippotherapy provided by licensed health professionals using the multidimensional movement of the horse may be used in conjunction with standard physical therapy for improvement of gait and balance in children with bilateral spastic cerebral palsy. Copyright © 2011 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  14. Classification of topographical pattern of spasticity in cerebral palsy: a registry perspective.

    Science.gov (United States)

    Reid, Susan M; Carlin, John B; Reddihough, Dinah S

    2011-01-01

    This study used data from a population-based cerebral palsy (CP) registry and systematic review to assess the amount of heterogeneity between registries in topographical patterns when dichotomised into unilateral (USCP) and bilateral spastic CP (BSCP), and whether the terms diplegia and quadriplegia provide useful additional epidemiological information. From the Victorian CP Register, 2956 individuals (1658 males, 1298 females), born 1970-2003, with spastic CP were identified. The proportions with each topographical pattern were analysed overall and by gestational age. Binary logistic regression analysis was used to assess temporal trends. For the review, data were systematically collected on topographical patterns from 27 registries. Estimates of heterogeneity were obtained, overall and by region, reporting period and definition of quadriplegia. Among individuals born <32 weeks, 48% had diplegia, whereas the proportion for children born ≥ 32 weeks was 24% (p < 0.001). Evidence was weak for a temporal trend in the relative proportions of USCP and BSCP (p = 0.038), but much clearer for an increase in the proportion of spastic diplegia relative to quadriplegia (p < 0.001). The review revealed wide variations across studies in the proportion of diplegia (range 34-90%) and BSCP (range 51-86%). These findings argue against a topographical classification based solely on laterality. Copyright © 2011 Elsevier Ltd. All rights reserved.

  15. Muscle torque of healthy individuals and individuals with spastic hemiparesis after passive static streching.

    Science.gov (United States)

    Tatsukawa DE Freitas, Sérgio Takeshi; DE Carvalho Abreu, Elizângela Márcia; Dos Reis, Mariane Cecilia; DE Souza Cunha, Bruna; Souza Moreira Prianti, Tamires; Pupio Silva Lima, Fernanda; Oliveira Lima, Mário

    2016-01-01

    Spasticity is one of the main causes of contracture, muscle weakness and subsequent functional incapacity. The passive static stretching can be included as having the purpose of increasing musculoskeletal flexibility, however, it also can influence the muscle torque. The objective is to verify the immediate effect of passive static stretching in the muscle strength of healthy and those who present spastic hemiparesis. There were assessed 20 subjects, 10 spastic hemiparetic (EG) and 10 healthy individuals (CG), including both sexes, aged between 22 and 78 years. The torque of extensor muscles of the knee was analyzed using isokinetic dynamometer. Results have shown that EG has less muscle torque compared to CG ( p torque after stretching ( p torque of CG after performing the program that was prescribed. Immediately after the passive stretch, a significant torque decrease can be seen in hypertonic muscle; it is believed that this reduction may be associated with the physiological overlap between actin and myosin filaments and so preventing the muscle to develop a maximum contraction.

  16. Bone mineral density and insulin-like growth factor-1 in children with spastic cerebral palsy.

    Science.gov (United States)

    Nazif, H; Shatla, R; Elsayed, R; Tawfik, E; Osman, N; Korra, S; Ibrahim, A

    2017-04-01

    Children with cerebral palsy (CP) have significant decrease linear growth rate and low bone mineral density (BMD). This study is to evaluate BMD in children with CP and its relation to the levels of insulin-like growth factor-1 (IGF-1). This cross-sectional study was carried out on 58 children suffering from spastic CP with the age range 4-12 years compared to 19 controls. All assessed by dual energy x-ray absorptiometry (DXA) to measure BMD, serum level of IGF-1, and serum vitamin D. The patients were classified according to their GMFCS. Fractures were reported in seven (12.1%) of cases. Our study demonstrated that, IGF-1 level and BMD decrease in correlation with the severity of CP. IGF-1correlates positively with serum vitamin D, BMI, and BMD. CP children with severe GMFCS level or who use anticonvulsive drugs are at a high risk for low BMD and low levels of IGF-1. Both BMD and IGF-1 were significantly in low children with spastic CP; IGF-1 negatively correlates with the severity of osteopenia in children with spastic. Children with CP who are not independently ambulant or with severe GMFCS level or who use anticonvulsive drugs are at a high risk for developing low BMD.

  17. IMPACT OF BODY WEIGHT SUPPORTED BACKWARD TREADMILL TRAINING ON WALKING SPEED IN CHILDREN WITH SPASTIC DIPLEGIA

    Directory of Open Access Journals (Sweden)

    Hamada El Sayed Abd Allah Ayoub

    2016-10-01

    Full Text Available Background: A lot of the ambulating children with spastic diplegia were able to walk with flexed hips, knees and ankles this gait pattern is known as crouch gait. The most needed functional achievement of diplegic children habilitation is to be able to walk appropriately. The development of an independent and efficient walking is one of the main objectives for children with cerebral palsy especially those with spastic diplegia. Method: Twenty children with spastic diplegia enrolled in this study, they were classified into two groups of equal number, eligibility to our study were ages ranged from seven to ten years, were able to ambulate, They had gait problems and abnormal gait kinematics. The control group (A received selected physical therapy program based on neurodevelopmental approach for such cases, while the study group (B received partial body weight supported backward treadmill training in addition to regular exercise program. Gait pattern was assessed using the Biodex Gait Trainer II for each group pre and post three months of the treatment program. Results: There was statistically significant improvement in walking speed in the study group (P<0.05 with significant difference when comparing post treatment results between groups (p<0.05. Conclusion: These findings suggested that partial body weight supported backward treadmill training can be included as a supplementary therapeutic modality to improve walking speed and functional abilities of children with diplegic cerebral palsy.

  18. Catheter Migration After Implantationan Intrathecal Baclofen Infusion Pump for Severe Spasticity: A Case Report

    Directory of Open Access Journals (Sweden)

    Tung-Chou Li

    2008-09-01

    Full Text Available We report a case of intrathecal baclofen infusion pump implantation complicated by migration of the catheter tip. A 55-year-old man required an intrathecal baclofen infusion for severe spasticity 4 years after a cervical spinal cord injury with incomplete tetraparesis. Twelve months after initial implantation of the device, the patient began to experience a recurrence of trunk tightness and spasticity. Subsequent X-ray and computed tomography evaluations of the catheter system revealed pooling of contrast medium outside of the intrathecal distribution in the lumbar subcutaneous region of the back and therefore migration of the pump catheter tip. At surgical revision, emphasis was placed on minimizing the length of catheter outside of the spine and securing the catheter in the supraspinous fascia with a right-angled anchor. The distance between the anchors and the entry point of the catheter into the supraspinous fascia was also reduced to prevent slipping when the patient bends forward. After surgery, the patient's spasticity improved and, 1 year later, he has experienced no further complications during follow-up, requiring an average baclofen dose of 150 mg/day. Here, we describe several surgical methods intended to secure the intrathecal catheter and prevent catheter migration. Other complications related to catheter failure are also highlighted.

  19. Neurological manifestations in individuals with HTLV-1-associated myelopathy/tropical spastic paraparesis in the Amazon.

    Science.gov (United States)

    Dias, G A S; Yoshikawa, G T; Koyama, R V L; Fujihara, S; Martins, L C S; Medeiros, R; Quaresma, J A S; Fuzii, H T

    2016-02-01

    A cross-sectional observational study was conducted. The aim was to analyze the clinical-functional profile of patients diagnosed with HTLV-1 (human T-lymphotropic virus type 1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) in the Amazon region. Reference center for HTLV in the city of Belém, state of Pará, Brazil. Muscle strength, muscle tone, balance and the need for gait assistance among patients with HAM/TSP were evaluated. Among the 82 patients infected with HTLV-1, 27 (10 men and 17 women) were diagnosed with HAM/TSP. No statistically significant difference in muscle tone or strength was found between the lower limbs. Muscle weakness and spasticity were predominant in the proximal lower limbs. Patients with HAM/TSP are at a high risk of falls (P=0.03), and predominantly use either a cane or a crutch on one side as a gait-assistance device (P=0.02). Patients with HAM/TSP exhibit a similar clinical pattern of muscle weakness and spasticity, with a high risk of falls, requiring gait-assistance devices.

  20. Epidemiological, humanistic, and economic burden of illness of lower limb spasticity in adults: a systematic review

    Directory of Open Access Journals (Sweden)

    Martin A

    2014-01-01

    Full Text Available Alison Martin,1 Seye Abogunrin,1 Hannah Kurth,2 Jerome Dinet2 1Evidera, London, UK; 2Ipsen, Boulogne Billancourt Cedex, France Background: The purpose of this study was to investigate the epidemiological, humanistic, and economic burden of illness associated with adult lower limb spasticity (LLS and its complications. Methods: A systematic search of MEDLINE and EMBASE identified 23 studies published between January 2002 and October 2012 that assessed the epidemiology, impact, and resource use associated with LLS. A hand-search of four neurology conferences identified abstracts published between 2010 and 2012. Results: LLS was found to occur in one third of adults after stroke, half to two thirds with multiple sclerosis, and three quarters with cerebral palsy. LLS limits mobility and reduces quality of life. No clear association was found between LLS and occurrence of pain, development of contractures, or risk of falls. Conclusion: The evidence on the burden of LLS and its complications is surprisingly limited given the condition's high prevalence among adults with common disorders, such as stroke. Further research is needed to clarify the impact of LLS, including the likelihood of thrombosis in spastic lower limbs. The dearth of high-quality evidence for LLS suggests a lack of awareness of, and interest in, the problem, and therefore, the unmet need among patients and their carers. Keywords: muscle spasticity, cost of illness, complications, quality of life

  1. Botulinum toxin type A chemodenervation treatment in spastic forms of cerebral palsy

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    A. L. Kurenkov

    2013-01-01

    Full Text Available Cerebral palsy (CP is one of the most serious outcomes of the perinatal lesion of central nervous system and the most common reason for neurological disability in children. Being the key cause of pathological dynamic stereotypes that frequently result in pathological posture and contractures, spasticity is critically important for CP. The use of botulinum toxin type A (BTA in complex treatment 2-6 years old CP patients allows significantly to improve motor abilities, help to change the surgical procedure, delay or even avoid some types of surgery. For elder children the use of BTA allows to improve local motor impairment. The treatment of spasticity in CP with BTA is safe (evidence level A and highly effective (evidence level A. It leads to the positive change of pathological dynamic stereotype, significantly improves gait, decreases muscle tone with Ashworth and Tardeu scales and rises the gross motor function score. Our own experience of onabotulinumtoxinA treatment as a part of complex therapy in 68 patients with spastic forms of CP demonstrates the significant improvement of motor function, most noticeable in younger patients(early pre-school age with GMFS I-III.

  2. Lower limb spasticity assessment using an inertial sensor: a reliability study

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    Sterpi, I; Colombo, R; Caroli, A; Meazza, E; Maggioni, G; Pistarini, C

    2013-01-01

    Spasticity is a common motor impairment in patients with neurological disorders that can prevent functional recovery after rehabilitation. In the clinical setting, its assessment is carried out using standardized clinical scales. The aim of this study was to verify the applicability of inertial sensors for an objective measurement of quadriceps spasticity and evaluate its test–retest and inter-rater reliability during the implementation of the Wartenberg pendulum test. Ten healthy subjects and 11 patients in vegetative state with severe brain damage were enrolled in this study. Subjects were evaluated three times on three consecutive days. The test–retest reliability of measurement was assessed in the first two days. The third day was devoted to inter-rater reliability assessment. In addition, the lower limb muscle tone was bilaterally evaluated at the knee joint by the modified Ashworth scale. The factorial ANOVA analysis showed that the implemented method allowed us to discriminate between healthy and pathological conditions. The fairly low SEM and high ICC values obtained for the pendulum parameters indicated a good test–retest and inter-rater reliability of measurement. This study shows that an inertial sensor can be reliably used to characterize leg kinematics during the Wartenberg pendulum test and provide quantitative evaluation of quadriceps spasticity. (paper)

  3. Swedish Massage and Abnormal Reflexes of Children with Spastic Cerebral Palsy

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    Vida Alizad

    2007-09-01

    Full Text Available Objectives: Massage therapy is one of the most widely used complementary and alternative medicine therapies for children. This study was conducted to determine the effect of wedish massage on abnormal reflexes in children with spastic cerebral palsy (CP. Methods: This study was a single blind clinical trial conducted on forty children with spastic CP who were recruited from clinics of the University of Social Welfare & Rehabilitation Sciences. They were randomly assigned to intervention and control groups. The routine occupational therapy (OT techniques were performed during a 3 month-period in both groups. The intervention group also received Swedish massage for 30 minutes before every OT session. Primary, spinal, brain stem, midbrain, cortical and automatic reflexes were evaluated at the beginning of the study and 3 months later. The data analysis was done by parametric and nonparametric tests. Results: Finally, thirteen subjects in the intervention group and 14 subjects in the control group were remained and studied. The average ages in the intervention and control groups were 49.5 and 42.1 months respectively. There were no statistically significant differences in abnormal reflexes in the intervention group in comparison to the control (P>0.05. Discussion: Adding Swedish massage to traditional OT techniques had no significant effects on abnormal reflexes in children with spastic cerebral palsy. Evidently more research is required in order to completely reject the effects of Swedish massage on abnormal reflexes of children with CP.

  4. Effects of interactive games on motor performance in children with spastic cerebral palsy.

    Science.gov (United States)

    AlSaif, Amer A; Alsenany, Samira

    2015-06-01

    [Purpose] Motor control and muscle strength impairments are the prime reasons for motor behavior disorders in children with spastic cerebral palsy. These impairments lead to histological changes in muscle growth and the learning of motor skills. Therefore, such children experience reduced muscle force generation and decreased muscle flexibility. We investigated the effect of training with Nintendo Wii Fit games on motor performance in children with spastic cerebral palsy. [Subjects and Methods] Forty children with cerebral palsy spastic diplegia aged 6-10 years diagnosed with level-3 functional capabilities according to the Gross Motor Classification System (GMFCS) were enrolled. Participants were divided randomly into equal groups: group (A) that practiced with the Nintendo Wii Fit game for at least 20 minutes/day for 12 weeks and group (B) that underwent no training (control group). The Movement Assessment Battery for Children-2 (mABC-2) was used to assess motor performance, because it mainly involves motor tasks very similar to those involved in playing Nintendo Wii Fit games, e.g., goal-directed arm movements, balancing, and jumping. [Results] There were significant improvements in the subscales of the motor performance test of those who practiced with the Nintendo Wii, while the control group showed no significant changes. [Conclusion] Using motion interactive games in home rehabilitation is feasible for children with cerebral palsy.

  5. A new approach to assess the spasticity in hamstrings muscles using mechanomyography antagonist muscular group.

    Science.gov (United States)

    Krueger, Eddy; Scheeren, Eduardo M; Nogueira-Neto, Guilherme N; Button, Vera Lúcia da S N; Nohama, Percy

    2012-01-01

    Several pathologies can cause muscle spasticity. Modified Ashworth scale (MAS) can rank spasticity, however its results depend on the physician subjective evaluation. This study aims to show a new approach to spasticity assessment by means of MMG analysis of hamstrings antagonist muscle group (quadriceps muscle). Four subjects participated in the study, divided into two groups regarding MAS (MAS0 and MAS1). MMG sensors were positioned over the muscle belly of rectus femoris (RF), vastus lateralis (VL) and vastus medialis (VM) muscles. The range of movement was acquired with an electrogoniometer placed laterally to the knee. The system was based on a LabVIEW acquisition program and the MMG sensors were built with triaxial accelerometers. The subjects were submitted to stretching reflexes and the integral of the MMG (MMG(INT)) signal was calculated to analysis. The results showed that the MMG(INT) was greater to MAS1 than to MAS0 [muscle RF (p = 0.004), VL (p = 0.001) and VM (p = 0.007)]. The results showed that MMG was viable to detect a muscular tonus increase in antagonist muscular group (quadriceps femoris) of spinal cord injured volunteers.

  6. The role of kinesiotaping combined with botulinum toxin to reduce plantar flexors spasticity after stroke.

    Science.gov (United States)

    Karadag-Saygi, Evrim; Cubukcu-Aydoseli, Koza; Kablan, Nilufer; Ofluoglu, Demet

    2010-01-01

    To evaluate the effect of kinesiotaping as an adjuvant therapy to botulinum toxin A (BTX-A) injection in lower extremity spasticity. This is a single-center, randomized, and double-blind study. Twenty hemiplegic patients with spastic equinus foot were enrolled into the study and randomized into 2 groups. The first group (n=10) received BTX-A injection and kinesiotaping, and the second group (n=10) received BTX-A injection and sham-taping. Clinical assessment was done before injection and at 2 weeks and 1, 3, and 6 months. Outcome measures were modified Ashworth scale (MAS), passive ankle dorsiflexion, gait velocity, and step length. Improvement was recorded in both kinesiotaping and sham groups for all outcome variables. No significant difference was found between groups other than passive range of motion (ROM), which was found to have increased more in the kinesiotaping group at 2 weeks. There is no clear benefit in adjuvant kinesiotaping application with botulinum toxin for correction of spastic equinus in stroke.

  7. New approaches in the management of spasticity in multiple sclerosis patients: role of cannabinoids

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    Paul F Smith

    2010-02-01

    Full Text Available Paul F SmithDepartment of Pharmacology and Toxicology, School of Medical Sciences, University of Otago, Dunedin, New ZealandAbstract: Cannabinoids such as Cannabis-based medicinal extracts (CBMEs are increasingly being used in the treatment of spasticity associated with multiple sclerosis (MS. They have been shown to have a beneficial effect on spasticity; however, this evidence is largely based on subjective rating scales. Objective measurements using the Ashworth scale have tended to show no significant effect; however, the validity of this scale has been questioned. The available clinical trial data suggest that the adverse side effects associated with using CBMEs are generally mild, such as dry mouth, dizziness, somnolence, nausea and intoxication. However, most of these trials were run over a period of months and it is possible that other adverse side effects could develop with long-term use. There may be reason to be concerned about the use of therapeutic cannabinoids by adolescents, people predisposed to psychosis and pregnant women.Keywords: multiple sclerosis, spasticity, cannabinoids, Cannabis

  8. Botulinum toxin therapy for treatment of spasticity in multiple sclerosis: review and recommendations of the IAB-Interdisciplinary Working Group for Movement Disorders task force.

    Science.gov (United States)

    Dressler, Dirk; Bhidayasiri, Roongroj; Bohlega, Saeed; Chahidi, Abderrahmane; Chung, Tae Mo; Ebke, Markus; Jacinto, L Jorge; Kaji, Ryuji; Koçer, Serdar; Kanovsky, Petr; Micheli, Federico; Orlova, Olga; Paus, Sebastian; Pirtosek, Zvezdan; Relja, Maja; Rosales, Raymond L; Sagástegui-Rodríguez, José Alberto; Schoenle, Paul W; Shahidi, Gholam Ali; Timerbaeva, Sofia; Walter, Uwe; Saberi, Fereshte Adib

    2017-01-01

    Botulinum toxin (BT) therapy is an established treatment of spasticity due to stroke. For multiple sclerosis (MS) spasticity this is not the case. IAB-Interdisciplinary Working Group for Movement Disorders formed a task force to explore the use of BT therapy for treatment of MS spasticity. A formalised PubMed literature search produced 55 publications (3 randomised controlled trials, 3 interventional studies, 11 observational studies, 2 case studies, 35 reviews, 1 guideline) all unanimously favouring the use of BT therapy for MS spasticity. There is no reason to believe that BT should be less effective and safe in MS spasticity than it is in stroke spasticity. Recommendations include an update of the current prevalence of MS spasticity and its clinical features according to classifications used in movement disorders. Immunological data on MS patients already treated should be analysed with respect to frequencies of MS relapses and BT antibody formation. Registration authorities should expand registration of BT therapy for spasticity regardless of its aetiology. MS specialists should consider BT therapy for symptomatic treatment of spasticity.

  9. Effect of repetitive transcranial magnetic stimulation on reducing spasticity in patients suffering from HTLV-1-associated myelopathy.

    Science.gov (United States)

    Amiri, Mostafa; Nafissi, Shahriar; Jamal-Omidi, Shirin; Amiri, Motahareh; Fatehi, Farzad

    2014-12-01

    Human T-lymphotropic virus type 1 has been implicated in human T-lymphotropic virus type 1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). Regarding its endemicity in Iran and the role of repetitive transcranial magnetic stimulation in reducing spasticity, we decided to evaluate the efficacy of repetitive transcranial magnetic stimulation in reducing spasticity (as primary outcome) and pain, muscle power, and quality of life (as secondary outcomes) in patients suffering from HAM/TSP. In this pretest-posttest study, nine definite patients with HAM/TSP (according to WHO guidelines) were recruited. All patients underwent five consecutive daily sessions of active repetitive transcranial magnetic stimulation (each session consisting of 20 trains of 10 pulses at 5 Hz and an intensity of 90% of resting motor threshold for the biceps brachii muscle). Main outcome measures including spasticity (by modified Ashworth scale), pain (by visual analog scale), muscle power, and quality of life (by SF 36) were measured before the study and days 5, 7, 30 after the termination of the sessions. Seven (77.8%) females and 2 (22.2%) males were recruited with the mean age of 52 ± 12.67 years, and the mean duration of the disease was 5 ± 3.94. Comparison of the repeated measures showed a statistically significant decrease in pain and spasticity in lower limbs. The decrement in spasticity was persistent even 30 days after the intervention; however, the pain reduction was seen only 5 days after the procedure. No change in quality of life, and muscle power was detected. It seems that repetitive transcranial magnetic stimulation could decrease spasticity and pain in patients with HAM/TSP, and this effect could persistently continue by 1 month, but it did not influence patients' muscle power and quality of life, and it could be used as an adjuvant therapy in patients suffering from human T-lymphotropic virus type 1-associated HAM/TSP.

  10. Phase-II Clinical Validation of a Powered Exoskeleton for the Treatment of Elbow Spasticity.

    Science.gov (United States)

    Crea, Simona; Cempini, Marco; Mazzoleni, Stefano; Carrozza, Maria Chiara; Posteraro, Federico; Vitiello, Nicola

    2017-01-01

    Introduction: Spasticity is a typical motor disorder in patients affected by stroke. Typically post-stroke rehabilitation consists of repetition of mobilization exercises on impaired limbs, aimed to reduce muscle hypertonia and mitigate spastic reflexes. It is currently strongly debated if the treatment's effectiveness improves with the timeliness of its adoption; in particular, starting intensive rehabilitation as close as possible to the stroke event may counteract the growth and postpone the onset of spasticity. In this paper we present a phase-II clinical validation of a robotic exoskeleton in treating subacute post-stroke patients. Methods: Seventeen post-stroke patients participated in 10 daily rehabilitation sessions using the NEUROExos Elbow Module exoskeleton, each one lasting 45 min: the exercises consisted of isokinetic passive mobilization of the elbow, with torque threshold to detect excessive user's resistance to the movement. We investigated the safety by reporting possible adverse events, such as mechanical, electrical or software failures of the device or injuries or pain experienced by the patient. As regards the efficacy , the Modified Ashworth Scale, was identified as primary outcome measure and the NEEM metrics describing elbow joint resistance to passive extension (i.e., maximum extension torque and zero-torque angle) as secondary outcomes. Results: During the entire duration of the treatments no failures or adverse events for the patients were reported. No statistically significant differences were found in the Modified Ashworth Scale scores, between pre-treatment and post-treatment and between post-treatment and follow-up sessions, indicating the absence of spasticity increase throughout (14 days) and after (3-4 months follow-up) the treatment. Exoskeleton metrics confirmed the absence of significant difference in between pre- and post-treatment data, whereas intra-session data highlighted significant differences in the secondary outcomes

  11. Phase-II Clinical Validation of a Powered Exoskeleton for the Treatment of Elbow Spasticity

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    Simona Crea

    2017-05-01

    Full Text Available Introduction: Spasticity is a typical motor disorder in patients affected by stroke. Typically post-stroke rehabilitation consists of repetition of mobilization exercises on impaired limbs, aimed to reduce muscle hypertonia and mitigate spastic reflexes. It is currently strongly debated if the treatment's effectiveness improves with the timeliness of its adoption; in particular, starting intensive rehabilitation as close as possible to the stroke event may counteract the growth and postpone the onset of spasticity. In this paper we present a phase-II clinical validation of a robotic exoskeleton in treating subacute post-stroke patients.Methods: Seventeen post-stroke patients participated in 10 daily rehabilitation sessions using the NEUROExos Elbow Module exoskeleton, each one lasting 45 min: the exercises consisted of isokinetic passive mobilization of the elbow, with torque threshold to detect excessive user's resistance to the movement. We investigated the safety by reporting possible adverse events, such as mechanical, electrical or software failures of the device or injuries or pain experienced by the patient. As regards the efficacy, the Modified Ashworth Scale, was identified as primary outcome measure and the NEEM metrics describing elbow joint resistance to passive extension (i.e., maximum extension torque and zero-torque angle as secondary outcomes.Results: During the entire duration of the treatments no failures or adverse events for the patients were reported. No statistically significant differences were found in the Modified Ashworth Scale scores, between pre-treatment and post-treatment and between post-treatment and follow-up sessions, indicating the absence of spasticity increase throughout (14 days and after (3–4 months follow-up the treatment. Exoskeleton metrics confirmed the absence of significant difference in between pre- and post-treatment data, whereas intra-session data highlighted significant differences in the

  12. [Autoimmune syndrome in the tropical spastic paraparesis/myelopathy associated with human T-lymphotropic virus infections].

    Science.gov (United States)

    Domínguez, Martha C; Torres, Miyerlandi; Tamayo, Oscar; Criollo, William; Quintana, Milton; Sánchez, Adalberto; García, Felipe

    2008-12-01

    Previous reports have given evidence that in tropical spastic paraparesis (TSP)/human T-lymphotrophic virus (HTLV-I)-associated myelopathy (HAM), an autoimmune process occurs as part of its pathogenesis. The roles of autoimmunity and the molecular mimicry was evaluated in TSP/HAM patients. Plasma samples were characterized from patients in the Pacific coastal region of Colombia. Thirty-seven were identified as TSP/HAM, 10 were diagnosed with adult T-cell leukemia virus, 22 were asymptomatic carriers but seropositive for HTLV-I and 20 were seronegative and served as negative controls. Plasmatic levels of the following were determined: antinuclear antibody (ANA) levels, anticardiolipine-2 (ACL-2), interferon- (IFN-gamma) and interleukin-4 (IL-4). Using Western blot, the crossreactivity of the seropositive and seronegative samples was evaluated against proteins extracted from several central nervous system components of non infected Wistar rats. The HTLV-I seropositive plasmas were crossreacted with a monoclonal tax (LT4 anti-taxp40) from spinal cord neurons of non infected Wistar rats. Of the TSP/HAM patients, 70.2% were reactive against ANA and 83.8% against ACL-2, in contrast with those ATL and asymptomatic seropositives subjects that were not reactive (P<0.001). Moreover, 70.3% had detectable levels of IFN and 43.2% had detectable IL-4. LT4 anti-taxp40 and plasma of TSP/HAM exhibited cross reactivity with a MW 33-35 kDa protein from the rat spinal cord nuclei. Support was provided for the existence of an autoimmune syndrome mediated by molecular mimicry; the syndrome was responsible for some of the axonal degeneration observed in TSP/HAM patients.

  13. Quality of life and self-esteem of persons with paraplegia living in São Paulo, Brazil.

    Science.gov (United States)

    Blanes, Leila; Carmagnani, Maria Isabel S; Ferreira, Lydia M

    2009-02-01

    To evaluate the quality of life (QoL) and self-esteem of paraplegic persons. The sample consisted of 60 outpatients with traumatic paraplegia living in São Paulo, Brazil, from whom clinical and demographic data were obtained. QoL was assessed by the 36-item Short-Form (SF-36) health survey questionnaire, and self-esteem was measured by Rosenberg's Self-Esteem (RSE) scale. Statistical analysis was performed using Student's t-test, analysis of variance and Fisher's least significant difference (LSD) test at a significance level of 5%. Participants were predominately men (86.7%) with a mean age of 32.9 (standard deviation [SD] = 9.47) years, low education level and low income. The SF-36 dimensions that received the lowest scores were physical functioning, role physical and role emotional. Cronbach's alpha for the SF-36 questionnaire was 0.80. A significant statistical difference was found between the presence of pressure ulcers and low scores on mental health (P = 0.001), as determined by Student's t-test. The mean self-esteem score was 8.35 and there was a significant statistical difference between low self-esteem scores and occupation (P = 0.008). Participants reported low QoL and self-esteem. The results provide background information that may be useful in the development of strategies to reduce the impact of spinal cord injury (SCI) on the life and health of persons with SCI, improving their QoL.

  14. Radiotherapy of heterotopic bone formation in patients with paraplegia. Preliminary results; Strahlentherapie heterotoper Ossifikationen bei Querschnittsgelaehmten. Praeliminaere Ergebnisse

    Energy Technology Data Exchange (ETDEWEB)

    Sautter-Bihl, M.L. [Klinik fuer Strahlentherapie, Staedtisches Klinikum Karlsruhe (Germany); Liebermeister, E. [Klinik fuer Strahlentherapie, Staedtisches Klinikum Karlsruhe (Germany); Heinze, H.G. [Klinik fuer Strahlentherapie, Staedtisches Klinikum Karlsruhe (Germany); Nanassy, A. [Klinik fuer Orthopaedie, Rehabilitationskrankenhaus Langensteinbach (Germany); Stoltze, D. [Klinik fuer Orthopaedie, Rehabilitationskrankenhaus Langensteinbach (Germany)

    1995-08-01

    In 20 patients with paralysis, 25 regions were irradiated with (mostly) 10 Gy in single fractions of 2 to 2.5 Gy using 8 MW photons. In 15 patients radiotherapy was performed as a primary treatment in the status of myositis; 7 patients were treated after (subtotal) resection of already manifest ossifications (2 patients were treated twice, primarily and postoperatively). In a minimum follow-up 12 weeks, none of the 20 irradiated patients showed any progression of the developing or already manifest ossification; thus mobilisation and rehabilitation could be carried out as desired. No side effects occurred. The preliminary results of the present study suggest that radiotherapy is an effective local treatment with minimal side effects for the prevention of heterotopic bone formation in patients with paraplegia. (orig.) [Deutsch] Bei 20 Patienten (18 Maenner, zwei Frauen, Alter 19 bis 62 Jahre) mit Querschnittssyndrom wurden 25 Regionen mit ueberwiegend 10 Gy a 2 bis 2,5 Gy Einzeldosis mit 8-MW-Photonen bestrahlt. Die Radiatio erfolgte bei 15 Patienten als Primaerprophylaxe im entzuendlichen Stadium, bei sieben Patienten sekundaer nach (subtotaler) Resektion von Ossifikationen (zwei Patienten wurden sowohl primaer als auch sekundaer bestrahlt). Bei einer Mindestnachbeobachtungszeit von zwoelf Wochen trat in keinem Fall eine Progression der sich entwickelnden bzw. bereits bestehenden heterotopen Ossifikationen auf: saemtliche Patienten konnten wunschgemaess mobilisiert und im Rahmen ihrer neurologischen Ausfaelle rehabilitiert werden. Nebenwirkungen traten nicht auf. Die vorliegende praeliminaeren Ergebnisse deuten hin, dass die Strahlentherapie eine effektive und nebenwirkungsarme lokale Therapie zur Verhinderung heterotoper Ossifikationen beim Querschnittssyndrom darstellt. (orig.)

  15. Emergency Closed Reduction of a C4/5 Fracture Dislocation with Complete Paraplegia Resulting in Profound Neurologic Recovery

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    Christian W. Müller

    2013-01-01

    Full Text Available Introduction. Cervical spinal cord injuries due to traumatic fractures are associated with persistent neurological deficits. Although clinical evidence is weak, early decompression, defined as <24–72 h, has been frequently proposed. Animal studies show better outcomes after early decompression within one hour or less, which can hardly ever be achieved in clinical practice. Case Presentation. A 37-year-old patient was hospitalized after being hit by a shying horse. After diagnosis of C4/5 fracture dislocation and complete paraplegia, she was intubated and sedated with deep relaxation. Emergency reduction was performed at approximately 120 minutes after trauma. Subsequently, a standard anterior decompression, discectomy, and fusion were carried out. She was then transferred to a specialized rehabilitation hospital. Her neurologic function improved from AIS grade A on admission to grade B postoperatively and grade D after four months of rehabilitation. One year after the accident, she was ambulatory without walking aids and restarted horse riding. Discussion and Conclusion. Rarely in clinical practice, decompression of the spine canal can be performed as early as in this case. This case highlights the potential benefit of utmost early reduction in cervical fracture dislocations with compression of the spinal cord.

  16. Unusual Presentation of a Primary Ewing’s Sarcoma of the Spine with Paraplegia: A Case Report

    Science.gov (United States)

    Sundarapandian, Rajkumar Jayachandran; Surulivel, Vignesh Jayabalan

    2015-01-01

    Ewing’s sarcoma is a primary malignancy of the bone affecting individuals in the second decade of life. Primary sarcomas of the spine are rare and the occurrence of Primary Ewing’s sarcoma in the spine is very rare. Ewing’s sarcoma occurring in the spine is divided into two types, Ewing’s sarcoma of sacral spine which are very aggressive with poor prognosis and Ewing’s sarcoma of the non sacral spine which is an extremely rare occurrence. Patient may present with neurological deficit when the tumour extends into the spinal canal causing spinal cord compression. Magnetic resonance imaging (MRI) is very sensitive in diagnosing the tumour and defining the extent of the tumour. Here we report an 18-year-old boy who presented with back pain and complete paraplegia of two months duration. The MRI gave a differential diagnosis of infective pathology due to the fluid collection in the paraspinal region, followed by primary malignancy as the second diagnosis. Patient underwent posterior spinal decompression and stabilization, and intaoperatively there was significant collection of pus whose culture showed no growth. The histopathology and immunohistochemistry studies confirmed the diagnosis of Ewing’s sarcoma and patient was started on combination chemotherapy and radiotherapy. PMID:25954672

  17. [When a patient falls (asleep) and can't get up: conversion disorder - paraplegia following general anesthesia].

    Science.gov (United States)

    Mason, Chawla LaToya

    This case report describes the rare occurrence of paraplegia caused by conversion disorder in a woman who received general anesthesia for breast surgery. A 46-year-old healthy woman received general anesthesia for excision of a left breast fibroepithelial lesion. In the post-anesthesia care unit, she reported bilateral loss of both sensation and motor function below the knees. Physical signs and symptoms did not correlate with any anatomical or neurological patterns; imaging revealed no abnormalities. Psychiatric consultation was performed wherein familial stressor circumstances were identified, leading to diagnosis and management of conversion disorder. Conversion disorder is characterized by alteration of physical function due to expression of an underlying psychological ailment. Its diagnosis requires thorough evaluation including appropriate workup to exclude organic causes. The meshing together of anesthesiology and psychiatry - as demonstrated by this case report - offers an opportunity to highlight important information pertaining to the definition, diagnosis, and management of conversion disorder as it may be encountered in the postanesthesia recovery period. Copyright © 2015 Sociedade Brasileira de Anestesiologia. Publicado por Elsevier Editora Ltda. All rights reserved.

  18. Cautious Use of Intrathecal Baclofen in Walking Spastic Patients: Results on Long-term Follow-up.

    Science.gov (United States)

    Dones, Ivano; Nazzi, Vittoria; Tringali, Giovanni; Broggi, Giovanni

    2006-04-01

    Intrathecal baclofen is presently the most effective treatment for diffuse spasticity whatever the cause. The fact that both spasticity is always accompanied by a degree of muscle weakness and that any antispastic treatment causes a decrease in muscle strength indicate that major attention must be paid in treating spasticity in ambulant patients. Methods.  We present here a retrospective study, approved by the insitutional ethics committee, of 22 ambulant spastic patients, selected as homogeneous for disease and disease duration, who were treated with intrathecal baclofen at the Istituto Nazionale Neurologico "C.Besta" in Milan. These patients were followed-up for to 15 years of treatment and their clinical assessment was enriched by the evaluation of their functional independence measurement (FIM) before and during treatment. Results.  There was improvement in quality of life as measured by the FIM scale; however, an increase in the patient's motor performance could not be detected. Conclusion.  Although we did not show any improvement in muscle performance, intrathecal baclofen did improve daily quality of life, even in spastic patients who were able to walk.

  19. Spasticity Measurement Based on Tonic Stretch Reflex Threshold in Children with Cerebral Palsy Using the PediAnklebot

    Directory of Open Access Journals (Sweden)

    Marco Germanotta

    2017-05-01

    Full Text Available Nowadays, objective measures are becoming prominent in spasticity assessment, to overcome limitations of clinical scales. Among others, Tonic Stretch Reflex Threshold (TSRT showed promising results. Previous studies demonstrated the validity and reliability of TSRT in spasticity assessment at elbow and ankle joints in adults. Purposes of the present study were to assess: (i the feasibility of measuring TSRT to evaluate spasticity at the ankle joint in children with Cerebral Palsy (CP, and (ii the correlation between objective measures and clinical scores. A mechatronic device, the pediAnklebot, was used to impose 50 passive stretches to the ankle of 10 children with CP and 3 healthy children, to elicit muscles response at 5 different velocities. Surface electromyography, angles, and angular velocities were recorded to compute dynamic stretch reflex threshold; TSRT was computed with a linear regression through angles and angular velocities. TSRTs for the most affected side of children with CP resulted into the biomechanical range (95.7 ± 12.9° and 86.7 ± 17.4° for Medial and Lateral Gastrocnemius, and 75.9 ± 12.5° for Tibialis Anterior. In three patients, the stretch reflex was not elicited in the less affected side. TSRTs were outside the biomechanical range in healthy children. However, no correlation was found between clinical scores and TSRT values. Here, we demonstrated the capability of TSRT to discriminate between spastic and non-spastic muscles, while no significant outcomes were found for the dorsiflexor muscle.

  20. Muscle releases to improve passive motion and relieve pain in patients with spastic hemiplegia and elbow flexion contractures.

    Science.gov (United States)

    Namdari, Surena; Horneff, J Gabe; Baldwin, Keith; Keenan, Mary Ann

    2012-10-01

    Patients with spastic hemiplegia after upper motor neuron (UMN) injury can develop elbow contractures. This study evaluated outcomes of elbow releases in treating spastic elbow flexion contractures in hemiplegic patients. Adults with spastic hemiplegia due to UMN injury who underwent elbow releases (brachialis, brachioradialis, and biceps muscles) were included. Nonoperative treatment was unsuccessful in all patients. Patients complained of difficulty with passive functions. Passive range of motion (ROM), pain relief, Modified Ashworth spasticity score, and complications were evaluated preoperatively and postoperatively. There were 8 men and 21 women with an average age of 52.4 years (range, 24.1-81.4 years). Seventeen patients had pain preoperatively. Postoperative follow-up was a mean of 1.7 years (range, 1-4.5 years). Preoperatively, patients lacked a mean of 78° of passive elbow extension compared with 17° postoperatively (P .05). Releases of the brachialis, brachioradialis, and biceps muscles can be an effective means of pain relief, improved passive ROM, and decreased spasticity in patients with elbow flexion deformity after UMN injury. Copyright © 2012 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Mosby, Inc. All rights reserved.

  1. A review of the properties and limitations of the Ashworth and modified Ashworth Scales as measures of spasticity.

    Science.gov (United States)

    Pandyan, A D; Johnson, G R; Price, C I; Curless, R H; Barnes, M P; Rodgers, H

    1999-10-01

    The Ashworth Scale and the modified Ashworth Scale are the primary clinical measures of spast city. A prerequisite for using any scale is a knowledge of its characteristics and limitations, as these will play a part in analysing and interpreting the data. Despite the current emphasis on treating spasticity, clinicians rarely measure it. To determine the validity and the reliability of the Ashworth and modified Ashworth Scales. A theoretical analysis following a structured literature review (key words: Ashworth; Spasticity; Measurement) of 40 papers selected from the BIDS-EMBASE, First Search and Medline databases. The application of both scales would suggest that confusion exists on their characteristics and limitations as measures of spasticity. Resistance to passive movement is a complex measure that will be influenced by many factors, only one of which could be spasticity. The Ashworth Scale (AS) can be used as an ordinal level measure of resistance to passive movement, but not spasticity. The modified Ashworth Scale (MAS) will need to be treated as a nominal level measure of resistance to passive movement until the ambiguity between the '1' and '1+' grades is resolved. The reliability of the scales is better in the upper limb. The AS may be more reliable than the MAS. There is a need to standardize methods to apply these scales in clinical practice and research.

  2. Short- and long-term effects of selective dorsal rhizotomy on gross motor function in ambulatory children with spastic diplegia Clinical article

    NARCIS (Netherlands)

    van Schie, P.E.M.; Schothorst, M.; Dallmeijer, A.J.; Vermeulen, R.J.; van Ouwerkerk, W.J.R.; Strijers, R.L.M.; Becher, J.G.

    2011-01-01

    Object. The primary aim of this prospective cohort study was to evaluate the short-term (1 year) and long-term (mean 6 years) effects of selective dorsal rhizotomy (SDR) on gross motor function and spasticity in ambulatory children with spastic diplegia. Secondary aims were to investigate side

  3. Correlations between risk factors and functional evolution in patients with spastic quadriplegia.

    Science.gov (United States)

    Rogoveanu, O C; Tuțescu, N C; Kamal, D; Alexandru, D O; Kamal, C; Streba, L; Trăistaru, M R

    2016-01-01

    Cerebral palsy is the most common cause of developing neuro-motor disability in children, in many cases, the triggering cause remaining unknown. Quadriplegia is the most severe spastic cerebral palsy, characterized by severe mental retardation and bi-pyramidal syndrome. The purpose of this paper was to demonstrate the importance of knowing the risk factors and the psychosomatic ones, determining to what extent they influence the functional evolution in patients diagnosed with spastic quadriplegia. 23 children diagnosed with spastic quadriplegia were included in the study, being aged between 1 year and half and 12 years. Patients were assessed at baseline (T1), at one year (T2) and after two years at the end of the study (T3). Patients received a comprehensive rehabilitation program for the motor and sensory deficits throughout the study. Initially, a comprehensive evaluation (etiopathogenic, clinical and functional) that started from a thorough medical history of children (the older ones), was conducted but chose parents to identify the risk factors, and a complete physical exam. At each assessment, joint and muscle balance was conducted. To assess functionality, the gross motor function classification systems (GMFCS) and manual ability (MACS) were used. Many risk factors that were classified according to the timeline in prenatal factors, perinatal and postnatal, were identified from a thorough history. A direct correlation was noticed between the decrease of coarse functionality and manual ability, both initially and in dynamic and low APGAR scores, low gestational age, low birth weight and a higher body mass index of the mother. A direct link was observed between the gross motor function and the manual ability. A significant improvement in the MACS score was noticed in patients with a better GMFCS score.

  4. Outcome of medial hamstring lengthening in children with spastic paresis: A biomechanical and morphological observational study.

    Science.gov (United States)

    Haberfehlner, Helga; Jaspers, Richard T; Rutz, Erich; Harlaar, Jaap; van der Sluijs, Johannes A; Witbreuk, Melinda M; van Hutten, Kim; Romkes, Jacqueline; Freslier, Marie; Brunner, Reinald; Becher, Jules G; Maas, Huub; Buizer, Annemieke I

    2018-01-01

    To improve gait in children with spastic paresis due to cerebral palsy or hereditary spastic paresis, the semitendinosus muscle is frequently lengthened amongst other medial hamstring muscles by orthopaedic surgery. Side effects on gait due to weakening of the hamstring muscles and overcorrections have been reported. How these side effects relate to semitendinosus morphology is unknown. This study assessed the effects of bilateral medial hamstring lengthening as part of single-event multilevel surgery (SEMLS) on (1) knee joint mechanics (2) semitendinosus muscle morphology and (3) gait kinematics. All variables were assessed for the right side only. Six children with spastic paresis selected for surgery to counteract limited knee range of motion were measured before and about a year after surgery. After surgery, in most subjects popliteal angle decreased and knee moment-angle curves were shifted towards a more extended knee joint, semitendinosus muscle belly length was approximately 30% decreased, while at all assessed knee angles tendon length was increased by about 80%. In the majority of children muscle volume of the semitendinosus muscle decreased substantially suggesting a reduction of physiological cross-sectional area. Gait kinematics showed more knee extension during stance (mean change ± standard deviation: 34±13°), but also increased pelvic anterior tilt (mean change ± standard deviation: 23±5°). In most subjects, surgical lengthening of semitendinosus tendon contributed to more extended knee joint angle during static measurements as well as during gait, whereas extensibility of semitendinosus muscle belly was decreased. Post-surgical treatment to maintain muscle belly length and physiological cross-sectional area may improve treatment outcome of medial hamstring lengthening.

  5. Experience with Relatox® in the combination therapy of arm and hand spasticity after stroke

    Directory of Open Access Journals (Sweden)

    V. V. Gusev

    2017-01-01

    Full Text Available Objective: to evaluate the safety, efficacy, and tolerability of the botulinum toxin A Relatox® in arm and hand spasticity after ischemic stroke in routine clinical practice.Patients and methods. The instigation enrolled 7 patients after ischemic stroke (7 years ago with the signs of upper limb spasticity. All the patients received combination treatment that involved daily kinesiotherapy sessions and electrical stimulation of the paralyzed limbs. Relatox® was once injected into the forearm muscles of the paralyzed arm 6 months or later after stroke. Muscles were chosen according to clinical and electromyographic findings. The patients' status was assessed before, 2 weeks and 3 months after injection.There were changes in muscle tone, motor abilities of the hand, in the degree of self-service, the presence of subjective sensations, and the degree of local and systemic reactions. The efficiency of therapy was evaluated clinically (Ashworth scale, Frenchay test, Barthel index and on the basis of an analysis of video monitoring a patient's status and of the consideration of care-givers' views.Before included in the study, all the patients were treated with different types of botulinum neurotoxin type A made by other manufacturers.Results. The clinical efficiency of local intramuscular injection of the botulinum toxin type Relatox® in combination with kinesiotherapy and electrical stimulation after 14 days and 3 months after injection was noted in all cases.The good tolerability, efficacy, and long-term of action of relatox, which were comparable to those of other botulinum neurotoxin type A products, were noted during a 3-month follow-up. Neither side effects no adverse events were identified.Conclusion. Accumulation of data on the doses and effects of drugs for the local therapy of post-stroke spasticity, which have been obtained by different clinical centers, and the possibility of choosing a medication will be able to improve treatment in such

  6. The ankle-foot orthosis improves balance and reduces fall risk of chronic spastic hemiparetic patients.

    Science.gov (United States)

    Cakar, E; Durmus, O; Tekin, L; Dincer, U; Kiralp, M Z

    2010-09-01

    Ankle foot orthoses (AFO) are commonly used orthotic device in order to restore the ankle foot function and to improve the balance and gait in post-stroke hemiparetic patients. However, there remain some discussions about their effectiveness on long term hemiparetic patients who had mild to moderate spasticity. To investigate the relative effect of prefabricated thermoplastic posterior leaf spring AFO (PLS-AFO) on balance and fall risk. A cross-over interventional study The Department of PMR of a tertiary hospital. Twenty-five chronic post-stroke long duration hemiparetic patients who had Ashworth grade 1-2 spasticity at affected calf muscles and lower limb Brunnstrom stage 2-3 and also able to walk independently without an assistive device. Berg Balance Scale (BERG), and the postural stability test (PST) and the fall risk test (FRT) of Biodex balance systems were used for the assessments. All of the patients were assessed with AFO and without AFO. All assessments were made with footwear. The mean post-stroke duration was 20,32±7,46 months. The BERG scores were 42,12±9,05 without AFO and 47,52±7,77 with AFO; the overall stability scores of FRT were 3,35±1,97 without AFO and 2,69±1,65 with AFO (Pbalance and provide fall risk reduction in chronic post-stroke ambulatory hemiparetic patients who had mild to moderate spasticity on their affected lower limb. These results encourage the usage of AFO on long duration hemiparetic patients in order to provide better balance and lesser fall risk.

  7. Does electrical stimulation reduce spasticity after stroke? A randomized controlled study.

    Science.gov (United States)

    Bakhtiary, Amir H; Fatemy, Elham

    2008-05-01

    To investigate the therapeutic effect of electrical stimulation on plantarflexor spasticity in stroke patients. A randomized controlled clinical trial study. Rehabilitation clinic of Semnan University of Medical Sciences. Forty stroke patients (aged from 42 to 65 years) with ankle plantarflexor spasticity. Fifteen minutes of inhibitory Bobath techniques were applied to one experimental group and a combination of 9 minutes of electrical stimulation on the dorsiflexor muscles and inhibitory Bobath techniques was applied to another group for 20 sessions daily. Passive ankle joint dorsiflexion range of motion, dorsiflexion strength test, plantarflexor muscle tone by Modified Ashworth Scale and soleus muscle H-reflex. The mean change of passive ankle joint dorsiflexion in the combination therapy group was 11.4 (SD 4.79) degrees versus 6.1 (SD 3.09) degrees, which was significantly higher (P = 0.001). The mean change of plantarflexor muscle tonicity measured by the Modified Ashworth Scale in the combination therapy group was -1.6 (SD 0.5) versus -1.1 (SD 0.31) in the Bobath group (P = 0.001). Dorsiflexor muscle strength was also increased significantly (P = 0.04) in the combination therapy group (0.7 +/- 0.37) compared with the Bobath group (0.4 +/- 0.23). However, no significant change in the amplitude of H-reflex was found between combination therapy (-0.41 +/- 0.29) and Bobath (-0.3 +/- 0.28) groups. Therapy combining Bobath inhibitory technique and electrical stimulation may help to reduce spasticity effectively in stroke patients.

  8. Modification of spasticity by transcutaneous spinal cord stimulation in individuals with incomplete spinal cord injury

    Science.gov (United States)

    Hofstoetter, Ursula S.; McKay, William B.; Tansey, Keith E.; Mayr, Winfried; Kern, Helmut; Minassian, Karen

    2014-01-01

    Context/objective To examine the effects of transcutaneous spinal cord stimulation (tSCS) on lower-limb spasticity. Design Interventional pilot study to produce preliminary data. Setting Department of Physical Medicine and Rehabilitation, Wilhelminenspital, Vienna, Austria. Participants Three subjects with chronic motor-incomplete spinal cord injury (SCI) who could walk ≥10 m. Interventions Two interconnected stimulating skin electrodes (Ø 5 cm) were placed paraspinally at the T11/T12 vertebral levels, and two rectangular electrodes (8 × 13 cm) on the abdomen for the reference. Biphasic 2 ms-width pulses were delivered at 50 Hz for 30 minutes at intensities producing paraesthesias but no motor responses in the lower limbs. Outcome measures The Wartenberg pendulum test and neurological recordings of surface-electromyography (EMG) were used to assess effects on exaggerated reflex excitability. Non-functional co-activation during volitional movement was evaluated. The timed 10-m walk test provided measures of clinical function. Results The index of spasticity derived from the pendulum test changed from 0.8 ± 0.4 pre- to 0.9 ± 0.3 post-stimulation, with an improvement in the subject with the lowest pre-stimulation index. Exaggerated reflex responsiveness was decreased after tSCS across all subjects, with the most profound effect on passive lower-limb movement (pre- to post-tSCS EMG ratio: 0.2 ± 0.1), as was non-functional co-activation during voluntary movement. Gait speed values increased in two subjects by 39%. Conclusion These preliminary results suggest that tSCS, similar to epidurally delivered stimulation, may be used for spasticity control, without negatively impacting residual motor control in incomplete SCI. Further study in a larger population is warranted. PMID:24090290

  9. A Descriptive Study of Lower Limb Torsional Kinematic Profiles in Children With Spastic Diplegia.

    Science.gov (United States)

    Simon, Anne-Laure; Ilharreborde, Brice; Megrot, Fabrice; Mallet, Cindy; Azarpira, Reza; Mazda, Keyvan; Presedo, Ana; Penneçot, Georges F

    2015-09-01

    Lower limb rotational anomalies in spastic diplegic children with cerebral palsy (CP) are common and difficult to identify through physical examination alone. The identification and treatment of the overall rotational disorders must be considered to restore physiological lever-arms lengths and lever-arms orientation.The aims of the study were to assess the prevalence of lower limb rotational malalignment and to describe the distribution of the different kinematic torsional profiles in children with spastic diplegia. Instrumented gait analysis data from 188 children with spastic diplegia were retrospectively reviewed. None of the patients had undergone surgery previously or received botulinum toxin treatment within 6 months before the review. Kinematic data, collected at the midstance phase, included: pelvic, hip, and ankle rotation and foot progression angle. The prevalence of kinematic rotational deviations was 98.4%. Sixty-one percent of the children walked with an internal foot progression angle and 21% exhibited external alignment. The pelvis was internally rotated in 41% of the cases and externally in another 27%. Hip rotation was internal in 29% and external in 27% of the cases. Ankle rotation was internal in 55% and external in 16% of the cases. Lower limb rotational anomalies involved more than one level in 77% of the limbs. A kinematic compensatory deviation was identified in at least one level in 48% of the limbs. Kinematic rotational anomalies were identified in nearly all the 188 children in the study. The multilevel involvement of lower limb malalignment was not systematically associated with compensatory mechanisms between the levels. Ankle rotational anomalies were the most frequent cause of lower limb torsional deviations followed by pelvic malalignment. Level IV.

  10. Can turned inward patella predict an excess of femoral anteversion during gait in spastic diplegic children?

    Science.gov (United States)

    Simon, Anne-Laure; Presedo, Ana; Ilharreborde, Brice; Mallet, Cindy; Mazda, Keyvan; Penneçot, Georges-François

    2014-06-01

    Determining patellar orientation in the transverse plane during observational gait analysis is a fundamental aspect of physical examinations. Many physicians consider that an abnormal position of the patella in the transverse planes is only explained by a rotational abnormality of the proximal femur. A total of 188 spastic diplegic children with cerebral palsy were reviewed (376 lower limbs). The physical examination included observation of patellar orientation at midstride and measuring femoral anteversion (FA). All patients also underwent 3-dimensional (3D) computerized gait analysis of pelvic and hip rotation kinematics. Observational gait analysis and videotapes found 103 children (206 lower limbs) with inturned patella at midstance. Kinematic data from 3D gait analysis showed that the visual impression of turned inward patella was erroneous in 48 limbs. Of the remaining 158 lower limbs, 117 (74%) exhibited excessive FA and 41 (26%) did not. Of the 117 with excessive FA, kinematics showed only 66 (56%) with excessive internal hip rotation (with or without excessive internal pelvic rotation). Of the 41 lower limbs without excessive FA, 25 were explained by excessive internal pelvic rotation and 16 were explained by excessive internal hip rotation (isolated spasticity and/or contracture of internal rotator muscles). Turned inward patella was caused by isolated excessive internal pelvic rotation in 48%, excessive internal hip rotation in 35% (including 44 cases with excessive FA and 12 cases with isolated spasticity and/or contracture of internal hip rotators), and excessive internal hip rotation combined with excessive internal pelvic rotation in 17%. Excessive FA was not the only cause of turned inward patella gait and could not explain this gait anomaly by itself. Excessive internal pelvic rotation was the most frequent cause of turned inward patella gait. Level IV.

  11. Novel application of a Wii remote to measure spasticity with the pendulum test: Proof of concept.

    Science.gov (United States)

    Yeh, Chien-Hung; Hung, Chi-Yao; Wang, Yung-Hung; Hsu, Wei-Tai; Chang, Yi-Chung; Yeh, Jia-Rong; Lee, Po-Lei; Hu, Kun; Kang, Jiunn-Horng; Lo, Men-Tzung

    2016-01-01

    The pendulum test is a standard clinical test for quantifying the severity of spasticity. In the test, an electrogoniometer is typically used to measure the knee angular motion. The device is costly and difficult to set up such that the pendulum test is normally time consuming. The goal of this study is to determine whether a Nintendo Wii remote can replace the electrogroniometer for reliable assessment of the angular motion of the knee in the pendulum test. The pendulum test was performed in three control participants and 13 hemiplegic stroke patients using both a Wii remote and an electrogoniometer. The correlation coefficient and the Bland-Altman difference plot were used to compare the results obtained from the two devices. The Wilcoxon signed-rank test was used to compare the difference between hemiplegia-affected and nonaffected sides in the hemiplegic stroke patients. There was a fair to strong correlation between measurements from the Wii remote and the electrogoniometer (0.513spastic) side from the nonaffected (nonspastic) side (both with p<.0001*). In addition, the intraclass correlation coefficient, standard error of measurement, and minimum detectable differences were highly consistent for both devices. Our findings suggest that the Wii remote may serve as a convenient and cost-efficient tool for the assessment of spasticity. Copyright © 2015 Elsevier B.V. All rights reserved.

  12. Research on the performance of the spastic calf muscle of young adults with cerebral palsy.

    Science.gov (United States)

    Lampe, Renee; Mitternacht, Jurgen

    2011-02-12

    The aim of this study was to find an objective graduation of pes equinus in infantile cerebral palsy, especially with regard to functional aspects, to allow a differentiated choice of the therapeutic options. Very often raises the question of whether a surgical lengthening of the Achilles tendon may let expect a functional improvement. For this documentation 17 patients with pes equinus and a diagnosis of spastic cerebral palsy, primarily of the lower limbs, and hemiplegia were examined first clinically and then by a procedure for calculating the functional kinetic parameters from an in-shoe plantar pressure distribution measurement (novel pedar-X system), which is used in many orthopedic practices and clinics as a standard measuring device. Using additional video motion analysis, the flexion in the ankle joint and the ankle joint torque were determined. From this the physical performance of the spastically shortened calf muscle was calculated. The course of the curves of torque and joint performance allows a functional classification of the pes equinus. Approximately three quarters of all pes equinus demonstrated functional activity of the most part of the normal push-off propulsion power. Even the rigid pes equinus was capable of performing push-off propulsion work, provided it converted energy that was absorbed during the heel-strike phase and released it again during the push-off phase. This suggests that the function of paretic ankle joint is better than its kinematics of motion. A heel strike with a pes equinus triggers via stretching stimuli in the muscle-ligament structure reflex motor functions, thereby causing the typical spastic gait pattern. This remarkable gait pattern is often evaluated as dysfunctional and as absolutely requiring correction. However, an aspect possibly neglected in this instance is the fact that this gait pattern may be efficient for the patient and may in fact be a suitable means allowing for economic locomotion despite the cerebral

  13. A COMPARATIVE STUDY ON EFFECTIVENESS OF OPEN VERSUS CLOSED KINETIC CHAIN EXERCISES TO IMPROVE GAIT IN SPASTIC DIPLEGIC CEREBRAL PALSY

    Directory of Open Access Journals (Sweden)

    Trishna Saikia Baruah

    2016-04-01

    Full Text Available Background: Cerebral Palsy (CP describes a non- progressive but not unchanging disorder of movement and posture due to an insult to or anomaly of the developing brain. People with spastic diplegia typically walk slowly and have difficulties in performing activities such as walking running or jumping. Children with spastic diplegic cerebral palsy are relied more on cadence to increase speed. Hence, the purpose of this study is to compare the effectiveness of open and closed kinetic chain (OKC and CKC exercises in improving gait in spastic diplegic cerebral palsy. Methods: 30 children with spastic diplegic cerebral palsy of both genders with age 4-12 years was taken. Cadence and distance covered in 1Minute Walk Test was calculated before and after the test. The intervention for group A was CKC exercises and group B was OKC exercises for 3 days a week for 6 weeks and each session lasted for 30-45 minutes was given for both the groups. Results: Paired t-test was performed to find effectiveness of CKC and OKC improving gait in spastic diplegic CP to see the difference of means of 1minute walk, t = 10.789 which is significant (p = 0.000 and for cadence, t = 3.37 which is highly significant (p = 0.00 implying that cadence and distance covered in1minute walk was more with CKC exercises. Conclusion: Based on the result it is concluded that CKC exercises are effective in improving gait than OKC exercises in spastic diplegic cerebral palsy.

  14. Phonologically based assessment and intervention in Spastic Cerebral Palsy: A case analysis

    Directory of Open Access Journals (Sweden)

    Michael A. Crary

    1981-11-01

    Full Text Available The articulation errors of one adult subject demonstrating a spastic variety of congenital cerebral palsy were evaluated via a phonological process analysis. This analysis indicated that a stopping process (replacement of fricatives with homorganic stops was the most detrimental to the subject's, intelligibility. Subsequent to this analysis a phonemic contrasting programme was initiated toward the goal of minimizing the influence of the stopping process. Results of  spontaneous speech sample analyses indicated that this approach was successful in increasing the percentage of correctly produced fricative patterns. Success in this case suggests the applicability of  a linguistically based intervention approach in structural/functional disturbances of speech articulation.

  15. Brain State Before Error Making in Young Patients With Mild Spastic Cerebral Palsy.

    Science.gov (United States)

    Hakkarainen, Elina; Pirilä, Silja; Kaartinen, Jukka; van der Meere, Jaap J

    2015-10-01

    In the present experiment, children with mild spastic cerebral palsy and a control group carried out a memory recognition task. The key question was if errors of the patient group are foreshadowed by attention lapses, by weak motor preparation, or by both. Reaction times together with event-related potentials associated with motor preparation (frontal late contingent negative variation), attention (parietal P300), and response evaluation (parietal error-preceding positivity) were investigated in instances where 3 subsequent correct trials preceded an error. The findings indicated that error responses of the patient group are foreshadowed by weak motor preparation in correct trials directly preceding an error. © The Author(s) 2015.

  16. Warm-needle moxibustion for spasticity after stroke: A systematic review of randomized controlled trials.

    Science.gov (United States)

    Yang, Liu; Tan, Jing-Yu; Ma, Haili; Zhao, Hongjia; Lai, Jinghui; Chen, Jin-Xiu; Suen, Lorna K P

    2018-03-22

    Spasticity is a common post-stroke complication, and it results in substantial deterioration in the quality of life of patients. Although potential positive effects of warm-needle moxibustion on spasticity after stroke have been observed, evidence on its definitive effect remains uncertain. This study aimed to summarize clinical evidence pertaining to therapeutic effects and safety of warm-needle moxibustion for treating spasticity after stroke. Randomized controlled trials were reviewed systematically on the basis of the Cochrane Handbook for Systematic Reviews of Interventions. The report follows the PRISMA statement. Ten electronic databases (PubMed, CENTRAL, EMBASE, AMED, CINAHL, Web of Science, CBM, CNKI, WanFang, and VIP) were explored, and articles were retrieved manually from two Chinese journals (The Journal of Traditional Chinese Medicine and Zhong Guo Zhen Jiu) through retrospective search. Randomized controlled trials with warm-needle moxibustion as treatment intervention for patients with limb spasm after stroke were included in this review. The risk of bias assessment tool was utilized in accordance with Cochrane Handbook 5.1.0. All included studies reported spasm effect as primary outcome. Effect size was estimated using relative risk, standardized mean difference, or mean difference with a corresponding 95% confidence interval. Review Manager 5.3 was utilized for meta-analysis. Twelve randomized controlled trials with certain methodological flaws and risk of bias were included, and they involved a total of 878 participants. Warm-needle moxibustion was found to be superior to electroacupuncture or acupuncture in reducing spasm and in promoting motor function and daily living activities. Pooled results for spasm effect and motor function were significant when warm-needle moxibustion was compared with electroacupuncture or acupuncture. A comparison of daily living activities indicated significant differences between warm-needle moxibustion and

  17. [Microsurgical drezotomy for the treatment of spasticity of the lower limbs].

    Science.gov (United States)

    Mertens, P; Sindou, M

    1998-09-01

    Ablative functional neurosurgery can be useful in some selected patients for the treatment of harmful spasticity in the lower limbs. Microsurgical drezotomy was introduced in 1972, on the basis of anatomical studies of the human dorsal root entry zone (DREZ) showing a topographical segregation of the afferent fibers according to their size and thus functional destinations. It consists of a 3 mm deep microsurgical lesion directed at a 45 degree angle in the postero-lateral sulcus, penetrating the DREZ in its ventro-lateral aspect, at the level of all the rootlets considered as involved in spasticity (and pain). It destroys mainly the lateral (nociceptive) and central (myotatic) afferent fibers as well as the facilitatory medial part of the Lissauer tract, whilst sparing most of the medial (lemniscal) fibers and the inhibitor lateral part of the Lissauer tract. We report a series of 121 bedridden patients suffering from harmful spasticity in one (15) or both (106) lower limbs and treated with microsurgical drezotomy. Surgery was decided on because of abnormal postures in flexion in two-thirds of the patients and in hyperextension in one-third, additional pain in 75 of them, and hyperactive bladder in 38 cases. The post-operative results were evaluated after a mean follow-up time of 5 years and 6 months. Both spasticity and spasms were significantly decreased or suppressed respectively in 78% and 88% of the patients. When present, pain was relieved without abolition of sensation in 82%. These benefits resulted in either disappearance or marked reduction of the abnormal postures and articular limitation in 90% of the patients. When present preoperatively, urinary leakage disappeared in 85% of the cases. Mild to severe complications occurred in 32 patients and precipitated or were responsible for death in 6 cases (5%). This is explained by the fact that most of the patients, especially those affected by multiple sclerosis, were in very precarious general and

  18. Normative NeuroFlexor data for detection of spasticity after stroke: a cross-sectional study

    OpenAIRE

    Pennati, Gaia Valentina; Plantin, Jeanette; Borg, J?rgen; Lindberg, P?vel G

    2016-01-01

    Background and Objective The NeuroFlexor is a novel instrument for quantification of neural, viscous and elastic components of passive movement resistance. The aim of this study was to provide normative data and cut-off values from healthy subjects and to use these to explore signs of spasticity at the wrist and fingers in patients recovering from stroke. Methods 107 healthy subjects (age range 28?68 years; 51?% females) and 39 stroke patients (age range 33?69 years; 33?% females), 2?4 weeks ...

  19. Spastic paretic hemifacial contracture as a presenting feature of multiple sclerosis.

    Science.gov (United States)

    Koutsis, Georgios; Breza, Marianthi; Evangelopoulos, Maria-Eleftheria; Anagnostouli, Maria; Andreadou, Elisavet; Karagiorgis, Georgios; Kokotis, Panagiotis; Kilidireas, Costas; Karandreas, Nikolaos

    2017-04-01

    Spastic paretic hemifacial contracture (SPHC) is characterized by sustained unilateral contraction of the facial muscles associated with mild ipsilateral facial paresis. Rarely described in the context of multiple sclerosis (MS), it has never been reported as presenting symptom of MS. Two patients developed SPHC within the context of a clinically isolated syndrome suggestive of MS. EMG revealed continuous resting activity of irregularly firing motor unit potentials, associated with impaired recruitment upon voluntary contraction. SPHC remitted fully in both patients. SPHC, a rare but distinct clinical and EMG entity, can occasionally be the presenting feature of MS. Copyright © 2017 Elsevier B.V. All rights reserved.

  20. Supplemental Stimulation Improves Swing Phase Kinematics During Exoskeleton Assisted Gait of SCI Subjects With Severe Muscle Spasticity

    Science.gov (United States)

    Ekelem, Andrew; Goldfarb, Michael

    2018-01-01

    Spasticity is a common comorbidity associated with spinal cord injury (SCI). Robotic exoskeletons have recently emerged to facilitate legged mobility in people with motor complete SCI. Involuntary muscle activity attributed to spasticity, however, can prevent such individuals from using an exoskeleton. Specifically, although most exoskeleton technologies can accommodate low to moderate spasticity, the presence of moderate to severe spasticity can significantly impair gait kinematics when using an exoskeleton. In an effort to potentially enable individuals with moderate to severe spasticity to use exoskeletons more effectively, this study investigates the use of common peroneal stimulation in conjunction with exoskeleton gait assistance. The electrical stimulation is timed with the exoskeleton swing phase, and is intended to acutely suppress extensor spasticity through recruitment of the flexion withdrawal reflex (i.e., while the stimulation is activated) to enable improved exoskeletal walking. In order to examine the potential efficacy of this approach, two SCI subjects with severe extensor spasticity (i.e., modified Ashworth ratings of three to four) walked in an exoskeleton with and without supplemental stimulation while knee and hip motion was measured during swing phase. Stimulation was alternated on and off every ten steps to eliminate transient therapeutic effects, enabling the acute effects of stimulation to be isolated. These experiments indicated that common peroneal stimulation on average increased peak hip flexion during the swing phase of walking by 21.1° (236%) and peak knee flexion by 14.4° (56%). Additionally, use of the stimulation decreased the swing phase RMS motor current by 228 mA (15%) at the hip motors and 734 mA (38%) at the knee motors, indicating improved kinematics were achieved with reduced effort from the exoskeleton. Walking with the exoskeleton did not have a significant effect on modified Ashworth scores, indicating the common

  1. Supplemental Stimulation Improves Swing Phase Kinematics During Exoskeleton Assisted Gait of SCI Subjects With Severe Muscle Spasticity.

    Science.gov (United States)

    Ekelem, Andrew; Goldfarb, Michael

    2018-01-01

    Spasticity is a common comorbidity associated with spinal cord injury (SCI). Robotic exoskeletons have recently emerged to facilitate legged mobility in people with motor complete SCI. Involuntary muscle activity attributed to spasticity, however, can prevent such individuals from using an exoskeleton. Specifically, although most exoskeleton technologies can accommodate low to moderate spasticity, the presence of moderate to severe spasticity can significantly impair gait kinematics when using an exoskeleton. In an effort to potentially enable individuals with moderate to severe spasticity to use exoskeletons more effectively, this study investigates the use of common peroneal stimulation in conjunction with exoskeleton gait assistance. The electrical stimulation is timed with the exoskeleton swing phase, and is intended to acutely suppress extensor spasticity through recruitment of the flexion withdrawal reflex (i.e., while the stimulation is activated) to enable improved exoskeletal walking. In order to examine the potential efficacy of this approach, two SCI subjects with severe extensor spasticity (i.e., modified Ashworth ratings of three to four) walked in an exoskeleton with and without supplemental stimulation while knee and hip motion was measured during swing phase. Stimulation was alternated on and off every ten steps to eliminate transient therapeutic effects, enabling the acute effects of stimulation to be isolated. These experiments indicated that common peroneal stimulation on average increased peak hip flexion during the swing phase of walking by 21.1° (236%) and peak knee flexion by 14.4° (56%). Additionally, use of the stimulation decreased the swing phase RMS motor current by 228 mA (15%) at the hip motors and 734 mA (38%) at the knee motors, indicating improved kinematics were achieved with reduced effort from the exoskeleton. Walking with the exoskeleton did not have a significant effect on modified Ashworth scores, indicating the common

  2. Supplemental Stimulation Improves Swing Phase Kinematics During Exoskeleton Assisted Gait of SCI Subjects With Severe Muscle Spasticity

    Directory of Open Access Journals (Sweden)

    Andrew Ekelem

    2018-06-01

    Full Text Available Spasticity is a common comorbidity associated with spinal cord injury (SCI. Robotic exoskeletons have recently emerged to facilitate legged mobility in people with motor complete SCI. Involuntary muscle activity attributed to spasticity, however, can prevent such individuals from using an exoskeleton. Specifically, although most exoskeleton technologies can accommodate low to moderate spasticity, the presence of moderate to severe spasticity can significantly impair gait kinematics when using an exoskeleton. In an effort to potentially enable individuals with moderate to severe spasticity to use exoskeletons more effectively, this study investigates the use of common peroneal stimulation in conjunction with exoskeleton gait assistance. The electrical stimulation is timed with the exoskeleton swing phase, and is intended to acutely suppress extensor spasticity through recruitment of the flexion withdrawal reflex (i.e., while the stimulation is activated to enable improved exoskeletal walking. In order to examine the potential efficacy of this approach, two SCI subjects with severe extensor spasticity (i.e., modified Ashworth ratings of three to four walked in an exoskeleton with and without supplemental stimulation while knee and hip motion was measured during swing phase. Stimulation was alternated on and off every ten steps to eliminate transient therapeutic effects, enabling the acute effects of stimulation to be isolated. These experiments indicated that common peroneal stimulation on average increased peak hip flexion during the swing phase of walking by 21.1° (236% and peak knee flexion by 14.4° (56%. Additionally, use of the stimulation decreased the swing phase RMS motor current by 228 mA (15% at the hip motors and 734 mA (38% at the knee motors, indicating improved kinematics were achieved with reduced effort from the exoskeleton. Walking with the exoskeleton did not have a significant effect on modified Ashworth scores, indicating the

  3. Somatosensory inputs by application of KinesioTaping: effects on spasticity, balance, and gait in chronic spinal cord injury.

    Science.gov (United States)

    Tamburella, Federica; Scivoletto, Giorgio; Molinari, Marco

    2014-01-01

    Leg paralysis, spasticity, reduced interlimb coordination, and impaired balance are the chief limitations to overground ambulation in subjects with incomplete spinal cord injury (SCI). In recent years, the application of KinesioTaping (KT) has been proposed to enhance sensory inputs, decreasing spasticity by proprioception feedback and relieving abnormal muscle tension. Because no studies have examined KT-based techniques in SCI subjects, our goal was to analyze the effects of ankle joint KT on spasticity, balance, and gait. A randomized crossover case control design was used to compare the effects of KT and conventional nonelastic silk tape (ST) in 11 chronic SCI subjects, AIS level D, with soleus/gastrocnemius (S/G) muscle spasticity and balance and gait impairments. 48 h of treatment with KT or ST was followed by 48 h with the other technique after 1 week. A single Y-strip of Cure(©) tape (KT) and ST was to the S and G muscles with 0% stretch. Before and 48 h after of application of KT and ST, clinical data on the range of motion (ROM), spasticity, clonus, pain, balance, and gait were collected. Stabilometric platform assessment of center of pressure (COP) movements; bidimensional gait analysis; and recording of electromyographic (EMG) activity of the S, G, and tibialis anterior and extensor hallucis lungus muscles were also performed. Only KT had significant effects on spasticity (p < 0.05), clonus (p < 0.001) and COP movements (p < 0.05), kinematic gait parameters (p < 0.001), and EMG activity (p < 0.001). Comparison between ST and KT improvements pointed out significant differences as concerns ROM (p < 0.001), spasticity (p < 0.001), clonus (p < 0.001), pain (p < 0.001), COP parameters (p < 0.05), and most kinematic gait data (p < 0.05). Short-term application of KT reduces spasticity and pain and improves balance and gait in chronic SCI subjects. Although these data are promising, they require confirmation in a larger cohort of patients.

  4. Paraplegia-quadriplegia Independently Increases All Percutaneous Nephrolithotomy Complications: A Comparative Study Using the Modified Clavien System.

    Science.gov (United States)

    Danawala, Zeeshan A; Singh, Dinesh

    2015-05-01

    To investigate the perioperative complication rates for paraplegic-quadriplegic patients (PQPs) undergoing percutaneous nephrolithotomy (PCNL) as compared with non-PQPs using a standardized method of complication reporting via the Clavien system. Two hundred thirteen consecutive PCNLs performed by a single surgeon were analyzed. There were 31 and 115 patients separated into PQP and non-PQP groups, respectively. Data collection included demographic and clinical factors, as well as perioperative and delayed complications. Complications were organized by the Clavien grade. All- and initial-procedure complications were analyzed. The rate of adverse events for each Clavien grade was calculated, and statistical comparisons were made. The relationship between PQP and complication severity was investigated using univariate and multivariate analyses. There were 38 and 43 initial-procedure complications in the PQP and non-PQP groups, respectively. The rate of adverse events was higher across the spectrum of Clavien grades for the PQP group, specifically grade 1 (48.4% vs 20.2%; P = .002), grade 2 (22.6% vs 5.3%; P = .004), grade 3b (12.9% vs 2.6%; P = .038), grade 4a (6.5% vs 0%), and grade 4b (9.7% vs 1.8%; P = .066). Approximately 51.6% and 31.5% of PQPs and non-PQPs experienced ≥ 1 complications, respectively (odds ratio = 2.34; P = .05). Multivariate analysis demonstrated paraplegia or quadriplegia status to be an independent risk factor for the development of perioperative complications after adjusting for confounding factors (odds ratio = 2.91; P = .040). PCNL complication rates are higher in PQPs compared with non-PQPs. This study is one of the first in PCNL to use a standardized reporting system to highlight high-risk individuals within the stone population. Copyright © 2015 Elsevier Inc. All rights reserved.

  5. Voluntary Ambulation by Upper Limb-Triggered HAL® in Patients with Complete Quadri/Paraplegia Due to Chronic Spinal Cord Injury.

    Science.gov (United States)

    Shimizu, Yukiyo; Kadone, Hideki; Kubota, Shigeki; Suzuki, Kenji; Abe, Tetsuya; Ueno, Tomoyuki; Soma, Yuichiro; Sankai, Yoshiyuki; Hada, Yasushi; Yamazaki, Masashi

    2017-01-01

    Patients with complete paraplegia after spinal cord injury (SCI) are unable to stand or walk on their own. Standing exercise decreases the risk of decubitus ulcers, osteoporosis, and joint deformities in patients with SCI. Conventional gait training for complete paraplegia requires excessive upper limb usage for weight bearing and is difficult in cases of complete quadriplegia. The purpose of this study was to describe voluntary ambulation triggered by upper limb activity using the Hybrid Assistive Limb® (HAL) in patients with complete quadri/paraplegia after chronic SCI. Four patients (3 men, 1 woman) were enrolled in this study. The mean patient age ± standard deviation was 37.2 ± 17.8 (range, 20-67) years. Clinical evaluation before intervention revealed the following findings: case 1, neurological level C6, American Spinal Cord Injury Association impairment scale (AIS) grade B; case 2, T6, AIS A; case 3, T10 AIS A; and case 4, T11, AIS A. The HAL intervention consisted of 10 sessions. Each HAL session lasted 60-90 min. The HAL electrodes for hip and knee flexion-extension were placed on the anterior and posterior sides of the upper limbs contralaterally corresponding to each of the lower limbs. Surface electromyography (EMG) was used to evaluate muscle activity of the tensor fascia lata and quadriceps femoris (Quad) in synchronization with a Vicon motion capture system. The modified Ashworth scale (mAs) score was also evaluated before and after each session. All participants completed all 10 sessions. Cases 1, 2, and 3 demonstrated significant decreases in mAs score after the sessions compared to pre-session measurements. In all cases, EMG before the intervention showed no apparent activation in either Quad. However, gait phase dependent activity of the lower limb muscles was seen during voluntarily triggered ambulation driven by upper limb muscle activities. In cases 3 and 4, active contraction in both Quads was observed after intervention. These findings

  6. Voluntary Ambulation by Upper Limb-Triggered HAL® in Patients with Complete Quadri/Paraplegia Due to Chronic Spinal Cord Injury

    Directory of Open Access Journals (Sweden)

    Yukiyo Shimizu

    2017-11-01

    Full Text Available Patients with complete paraplegia after spinal cord injury (SCI are unable to stand or walk on their own. Standing exercise decreases the risk of decubitus ulcers, osteoporosis, and joint deformities in patients with SCI. Conventional gait training for complete paraplegia requires excessive upper limb usage for weight bearing and is difficult in cases of complete quadriplegia. The purpose of this study was to describe voluntary ambulation triggered by upper limb activity using the Hybrid Assistive Limb® (HAL in patients with complete quadri/paraplegia after chronic SCI. Four patients (3 men, 1 woman were enrolled in this study. The mean patient age ± standard deviation was 37.2 ± 17.8 (range, 20–67 years. Clinical evaluation before intervention revealed the following findings: case 1, neurological level C6, American Spinal Cord Injury Association impairment scale (AIS grade B; case 2, T6, AIS A; case 3, T10 AIS A; and case 4, T11, AIS A. The HAL intervention consisted of 10 sessions. Each HAL session lasted 60–90 min. The HAL electrodes for hip and knee flexion-extension were placed on the anterior and posterior sides of the upper limbs contralaterally corresponding to each of the lower limbs. Surface electromyography (EMG was used to evaluate muscle activity of the tensor fascia lata and quadriceps femoris (Quad in synchronization with a Vicon motion capture system. The modified Ashworth scale (mAs score was also evaluated before and after each session. All participants completed all 10 sessions. Cases 1, 2, and 3 demonstrated significant decreases in mAs score after the sessions compared to pre-session measurements. In all cases, EMG before the intervention showed no apparent activation in either Quad. However, gait phase dependent activity of the lower limb muscles was seen during voluntarily triggered ambulation driven by upper limb muscle activities. In cases 3 and 4, active contraction in both Quads was observed after intervention

  7. Incidence estimate and guideline-oriented treatment for post-stroke spasticity: an analysis based on German statutory health insurance data

    Directory of Open Access Journals (Sweden)

    Egen-Lappe V

    2013-03-01

    Full Text Available Veronika Egen-Lappe, Ingrid Köster, Ingrid SchubertPMV Research Group, Department of Child and Adolescence Psychiatry and Psychotherapy, University of Cologne, Cologne, GermanyBackground: Spasticity after stroke has been internationally recognized as an important health problem causing impairment of mobility, deformity, and pain. The aim of this study was to assess the frequency of first-ever and recurrent stroke and of subsequent spastic and flaccid paresis. Factors influencing the development of spasticity were analyzed. A further major aim was to provide a "real-life" assessment of the treatment of spasticity in Germany and to discuss this in view of the treatment recommended by German and international clinical guidelines.Methods: The database used in this study comprised a cohort of 242,090 insurants from a large statutory health insurance fund in the federal state of Hesse, Germany. A first hospital discharge diagnosis in 2009 with any of the International Classification of Diseases, Tenth Revision (ICD-10 codes I60–I64 was used to identify patients with acute stroke (hemorrhage and ischemic. These patients were followed up six months after stroke to monitor whether they developed spastic or flaccid paresis (hospital or ambulatory care diagnoses ICD-10 code G81–G83 [excluding G82.6/G83.4/G83.8]. For patients with spastic paresis after stroke the spasticity treatment was analyzed for a six-month period (physiotherapy, oral muscle relaxants, intrathecal baclofen, and botulinum toxin.Results: Standardized to the population of Germany, 3.7 per 1000 persons suffered a stroke in 2009 (raw 5.2/1000. Of all surviving patients, 10.2% developed spasticity within 6 months. Cox regression revealed no significant influence of patient age, gender, morbidity (diabetes, hypertensive diseases, ischemic heart diseases or type of stroke on development of spasticity. 97% of surviving patients with spasticity received physiotherapy (inpatient care 89

  8. Effects of intensive physical therapy on the motor function of a child with spastic hemiparesis

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    María Eugenia Serrano-Gómez

    2016-09-01

    Full Text Available Introduction: Physical therapy is a health profession whose object of study is the movement of the human body, therefore, it is responsible for cases involving motor development problems, as in the case presented here. Objective: To describe the short-term effect caused by intensive physical therapy treatment, performed with Therasuit, on motor function of a child with spastic right hemiparesis. Materials and methods: Descriptive qualitative research conducted based on the case study methodology with an observation period of two years. Results: The results include, besides the detection and diagnosis of the case, the analysis of information based on the application of the methodology and the observation of results in clinical trials to assess movement, design and implementation of a treatment plan using the Therasuit method. Conclusions: This case study makes possible to observe how the presence of a physical therapy program at a clinical practice institution allowed Therasuit method treatment to a four-year-old child diagnosed with right spastic hemiparesis sequelae, which improved gait and motor function.

  9. Effects of early spasticity treatment on children with hemiplegic cerebral palsy: a preliminary study

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    Marise Bueno Zonta

    2013-07-01

    Full Text Available Objective To compare motor and functional performance of two groups of children with hemiplegic cerebral palsy (HCP. Only the study group (SG received early treatment of spasticity with botulinum neurotoxin type A (BXT-A. Methods Gross Motor Function Measure (GMFM, functional performance (Pediatric Evaluation of Disability Inventory - PEDI, range of movement, gait pattern (Physician Rating Scale - PRS and the speed of hand movements were considered. Results The SG, composed of 11 HCP (45.64±6.3 months, was assessed in relation to the comparison group, composed of 13 HCP (45.92±6.4 months. SG showed higher scores in four of the five GMFM dimensions, which included scores that were statistically significant for dimension B, and higher scores in five of the six areas evaluated in the PEDI. Active wrist extension, the speed of hand movements and PRS score were higher in the SG. Conclusion Children who received early BXT-A treatment for spasticity showed higher scores in motor and functional performance.

  10. EFFECTIVENESS OF FLOOR EXERCISES VERSES BALL EXERCISES ON SPINAL MOBILITY IN SPASTIC DIPLEGIC

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    Sumitra Sakhawalkar

    2017-04-01

    Full Text Available Background: The objective of this present study was to determine the Effectiveness of Floor Exercises versus Ball Exercises on spinal mobility in Spastic Diplegic. Methods: Institutional ethical committee permission was taken before starting the study. A sample of 70 Diplegic CP children was screened, and 40 meeting the inclusion criteria were selected for study were then randomly divided into two groups one control other experimental i.e. 20 in each group by chit method. Both the groups were assessed with spinal goniometry using Tape measurements for Thoracolumbar spine and Modified Schober's Test (MMSTbefore and after the treatment. Control group were given Floor exercise on a mat, and Swiss ball was giving experimental group Ball exercises for ten repetitions with 10-second hold, treatment time was 40 min per session for 3days per week for six weeks. Same sustained stretching technique for both groups in bilateral lower extremities for ten repetitions with 30 sec hold was given for, TA, Iliopsoas, Hamstrings, Hip Adductor, Rectus femoris. Result: Significant improvement was noted in the Intra-group comparison of both the groups from baseline to post six weeks of intervention p-value 0.001*** in both groups, and the Intergroup analysis using with tape measurements for Thoracolumbar spine (p-value and MMST (p-value 0.133NS. Conclusion: The present study concludes that there is a similar effect of both Floor Exercises versus Ball Exercises on spinal mobility in Spastic Diplegic.

  11. NEUROORTHOPEDICAL APPROACH TO THE CORRECTION OF EQUINES CONTRACTURE IN PATIENTS WITH SPASTIC PARALYSIS

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    Valery Vladimirovich Umnov

    2014-03-01

    Full Text Available The frequency of recurrent contractures of the joints of the lower limb after their correction by means of tendon-muscle plasty remains significant. Therefore, the search for effective ways to correct contractures with the most resistant long-term result is relevant. The objective of the study is to improve treatment outcomes of equinus contracture in children with spastic paralysis. Materials and methods. We analyzed the results of correction of contractures in joints of lower limbs in 40 patients with cerebral palsy and the influence of spasticity of patognomonic muscles on them. The mean age was 6 years 7 months. In addition, for the correction of hypertonus of triceps muscle of tibia, the 330 lower limb segments were performed selective neurotomy of appropriate motor branches of the general tibial nerve. This operation in 304 cases was combined with achilloplastics or Strayer operation. Results. A mean degree of correlation between the degree of contracture in the ankle and increased tone of triceps tibia was determined (r value ranged from 0.451 to 0.487. Short-term results of the combined neuroorthopedic method for correction of contractures were good in estimating within 1 year post surgery, but a study of its short-run effect requires long-term follow-up.

  12. Effect of rhythmic auditory stimulation on gait performance in children with spastic cerebral palsy.

    Science.gov (United States)

    Kwak, Eunmi Emily

    2007-01-01

    The purpose of this study was to use Rhythmic Auditory Stimulation (RAS) for children with spastic cerebral palsy (CP) in a clinical setting in order to determine its effectiveness in gait training for ambulation. RAS has been shown to improve gait performance in patients with significant gait deficits. All 25 participants (6 to 20 years old) had spastic CP and were ambulatory, but needed to stabilize and gain more coordinated movement. Participants were placed in three groups: the control group, the therapist-guided training (TGT) group, and the self-guided training (SGT) group. The TGT group showed a statistically significant difference in stride length, velocity, and symmetry. The analysis of the results in SGT group suggests that the self-guided training might not be as effective as therapist-guided depending on motivation level. The results of this study support three conclusions: (a) RAS does influence gait performance of people with CP; (b) individual characteristics, such as cognitive functioning, support of parents, and physical ability play an important role in designing a training application, the effectiveness of RAS, and expected benefits from the training; and (c) velocity and stride length can be improved by enhancing balance, trajectory, and kinematic stability without increasing cadence.

  13. Orthodontic treatment and follow-up of a patient with cerebral palsy and spastic quadriplegia.

    Science.gov (United States)

    Çifter, Muhsin; Cura, Nil

    2016-10-01

    This report describes the clinical orthodontic management of a patient with spastic quadriplegia and cerebral palsy. Guidelines to overcome difficulties encountered during the treatment period are suggested. A 13-year-old boy with cerebral palsy and spastic quadriplegia complained of an undesirable oral appearance because of his malocclusion. He had a Class II molar relationship, with severe maxillary and moderate mandibular anterior crowding. Enamel hypoplasia was apparent on all teeth. He had losses of body function and upper extremity function of 70% and 39%, respectively. His physical limitations necessitated a treatment approach that did not rely on patient-dependent appliances. The treatment plan called for maxillary first premolar extractions, mandibular incisor protrusion, and air rotor stripping. The patient's oral function and esthetic appearance were significantly improved. Aligned dental arches with good occlusion were obtained. The patient's self-confidence improved during the treatment period. Physical appearance can influence personality and social acceptability. Corrective orthodontic treatment for patients with physical handicaps can improve not only oral function, but also self-confidence and self-esteem. Copyright © 2016 American Association of Orthodontists. Published by Elsevier Inc. All rights reserved.

  14. Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia.

    Science.gov (United States)

    Kurosawa, Kenji; Enomoto, Keisuke; Tominaga, Makiko; Furuya, Noritaka; Sameshima, Kiyoko; Iai, Mizue; Take, Hiroshi; Shinkai, Masato; Ishikawa, Hiroshi; Yamanaka, Michiko; Matsui, Kiyoshi; Masuno, Mitsuo

    2012-06-01

    Down syndrome is an autosomal chromosome disorder, characterized by intellectual disability and muscle hypotonia. Muscle hypotonia is observed from neonates to adulthood in Down syndrome patients, but muscle hypertonicity is extremely unusual in this syndrome. During a study period of nine years, we found three patients with severe spastic quadriplegia among 20 cases with Down syndrome and congenital duodenal stenosis/atresia (3/20). However, we could find no patient with spastic quadriplegia among 644 cases with Down syndrome without congenital duodenal stenosis/atresia during the same period (0/644, P quadriplegia among 17 patients with congenital duodenal stenosis/atresia without Down syndrome admitted during the same period to use as a control group (0/17, P quadriplegia in patients with Down syndrome. Long-term survival is improving, and the large majority of people with Down syndrome are expected to live well into adult life. Management and further study for the various problems, representing a low prevalence but serious and specific to patients with Down syndrome, are required to improve their quality of life. © 2012 The Authors. Congenital Anomalies © 2012 Japanese Teratology Society.

  15. Recovery of neuronal and network excitability after spinal cord injury and implications for spasticity

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    Jessica Maria D'Amico

    2014-05-01

    Full Text Available The state of areflexia and muscle weakness that immediately follows a spinal cord injury is gradually replaced by the recovery of neuronal and network excitability, leading to both improvements in residual motor function and the development of spasticity. In this review we summarize recent animal and human studies that describe how motoneurons and their activation by sensory pathways become hyperexcitable to compensate for the reduction of descending and movement-induced sensory inputs and the eventual impact on the muscle. We discuss how replacing lost patterned activation of the spinal cord by activating synaptic inputs via assisted movements, pharmacology or electrical stimulation may help to recover lost spinal inhibition. This may lead to a reduction of uncontrolled activation of the spinal cord and thus, improve its controlled activation by synaptic inputs to ultimately normalize circuit function. Increasing the excitation of the spinal cord below an injury with spared descending and/or peripheral functional synaptic activation, instead of suppressing it pharmacologically, may provide the best avenue to improve residual motor function and manage spasticity after spinal cord injury.

  16. Posture Influence on the Pendulum Test of Spasticity in Patients with Spinal Cord Injury.

    Science.gov (United States)

    de Azevedo, Eliza Regina Ferreira Braga Machado; Maria, Renata Manzano; Alonso, Karina Cristina; Cliquet, Alberto

    2015-12-01

    The study aims to investigate the influence of different postures on spasticity results by pendulum test in patients with spinal cord injury (SCI). The setting was at the University of Campinas (UNICAMP), Campinas, SP, Brazil. Five individuals with SCI and five individuals in the control group were included. All individuals went through the pendulum test in three different positions: supine, semi-supine at an angle of 30°, and sitting up at an angle of 60°. An electrogoniometer was attached to the right leg for measurement of knee joint angles. All situations were performed five times. Blood pressure was monitored during tests. Relaxation index (RI), normalized relaxation index (RIn), test duration in seconds, initial flexion angle, and resting angle were analyzed at three different positions. Results were compared between different positions, and statistically no differences were found. In individuals with SCI, RI (1.83 ± 0.2), RIn (1.14 ± 0.13), and test duration values (13.95 ± 4.14), in sitting up position, were similar to the control group results. In sitting up position, patients showed spasticity reduction. However, the other two postures produce pain and increase blood pressure in patients with tetraplegia. Therefore, these postures should be avoided in patients with lesions above T6, due to possible autonomic dysreflexia symptoms. Copyright © 2015 International Center for Artificial Organs and Transplantation and Wiley Periodicals, Inc.

  17. Signs of long-term adaptation to permanent brain damage as revealed by prehension studies of children with spastic hemiparesis

    NARCIS (Netherlands)

    Steenbergen, B.; Meulenbroek, R.G.J.; Latash, M.L.; Levin, M.

    2003-01-01

    This chapter focusses on signs of long-term adaptation to permanent brain damage in children with spastic hemiparesis. First, we recognize that adaptation processes may occur at various time scales. Then, we formulate a tentative strategy to infer signs of adaptation from behavioral data.

  18. The effect of walking speed on hamstrings length and lengthening velocity in children with spastic cerebral palsy

    NARCIS (Netherlands)

    Krogt, van der M.M.; Doorenbosch, C.A.M.; Harlaar, J.

    2009-01-01

    0.001). These data are important as a reference for valid interpretation of hamstrings length and velocity data in gait analyses at different walking speeds. The results indicate that the presence of spasticity is associated with reduced hamstrings length and lengthening velocity during gait, even

  19. High signal in the spinal cord on T2-weighted images in rapidly progressive tropical spastic paraparesis

    Energy Technology Data Exchange (ETDEWEB)

    Watanabe, M.; Hara, A.; Murakami, T.; Ando, Y.; Uyama, E.; Mita, S.; Uchino, M. [Kumamoto Univ. (Japan). School of Medicine; Yamashita, T. [Kumamoto Univ. (Japan). School of Medicine; Dept. of Neurology, Kumamoto Univ. (Japan)

    2001-03-01

    We report a 59-year-old woman with human T-cell lymphotrophic virus type-I (HTLV-I) associated myelopathy/tropical spastic paraparesis who showed high signal in the cervical and thoracic spinal cord on T2-weighted and contrast enhancement on T1-weighted images. (orig.)

  20. [Experience in using xeomin in the treatment of arm and hand spasticity in the early rehabilitation phase of stroke].

    Science.gov (United States)

    Kostenko, E V; Petrova, L V; Ganzhula, P A; Lisenker, L N; Otcheskaia, O V; Khozova, A A; Boĭko, A N

    2012-01-01

    To reduce arm and hand spasticity, 28 patients in the early rehabilitation phase of ischemic hemisphere stroke received injections of the botulinum toxin A preparation xeomin in the content of complex rehabilitation programs. The following muscles: m. biceps brachii, m. flexor digitorum profundus, m. flexor digitorum superficialis, m. flexor carpi ulnaris, m. flexor carpi radialis were injected according to standard scheme. The total dose of drug was 200U in moderate (2-3 scores on the Ashworth scale) and 300U in marked (3-4 scores on the Ashworth scale) spasticity. Efficacy and safety of treatment was assessed at baseline and 2, 4, 8, 12, 16 weeks after injections. Xeomin significantly (parm (due to patient's and caregiver's reports) remained for to 12 weeks. The treatment was most effective in the group of patients with moderate spasticity. The correlation analysis confirmed that the severity of spasticity increased with the disease duration that reduced rehabilitation efficiency. The treatment with xeomin was safe, no serious side-effects were found.

  1. Changes in Muscle Activation Following Ankle Strength Training in Children with Spastic Cerebral Palsy: An Electromyography Feasibility Case Report

    Science.gov (United States)

    Olsen, Jamie E.; Ross, Sandy A.; Foreman, Matthew H.; Engsberg, Jack R.

    2013-01-01

    Children with cerebral palsy (CP) are likely to experience decreased participation in activities and less competence in activities of daily living. Studies of children with spastic CP have shown that strengthening programs produce positive results in strength, gait, and functional outcomes (measured by the Gross Motor Function Measure). No…

  2. Physical Therapy for an Adult with Chronic Stroke after Botulinum Toxin Injection for Spasticity: A Case Report

    Science.gov (United States)

    Phadke, Chetan P.; Ismail, Farooq; Boulias, Chris

    2015-01-01

    ABSTRACT Purpose: In this case report, we describe the type and duration of a physical therapy and botulinum toxin type A (BoNTA) intervention directed at lower limb spasticity and the gait and balance improvement in a patient post-stroke. Treatment of focal spasticity with BoNTA intramuscular injections combined with physical therapy is recommended by rehabilitation experts. However, the optimal type and duration of physical therapy intervention to optimize any functional gains that follow chemodenervation induced by BoNTA has not been established. Method: One individual with chronic stroke who received BoNTA injections for upper and lower extremity spasticity was included. Physical therapy intervention consisted of 45- to 60-min sessions twice weekly for 12 weeks, based on the Bobath–neurodevelopmental therapy approach, and an activity-based home program. Results: After BoNTA injections and physical therapy, the patient made clinically significant improvements in balance and gait speed and became more independent with his ambulation. Conclusions: This case report demonstrates that physical therapy after BoNTA injections can result in significant functional improvements for individuals with spasticity after chronic stroke that may not be possible with BoNTA injections alone. PMID:25931655

  3. Classification of Posture in Poststroke Upper Limb Spasticity: A Potential Decision Tool for Botulinum Toxin A Treatment?

    Science.gov (United States)

    Hefter, Harald; Jost, Wolfgang H.; Reissig, Andrea; Zakine, Benjamin; Bakheit, Abdel Magid; Wissel, Jorg

    2012-01-01

    A significant percentage of patients suffering from a stroke involving motor-relevant central nervous system regions will develop a spastic movement disorder. Hyperactivity of different muscle combinations forces the limbs affected into abnormal postures or movement patterns. As muscular hyperactivity can effectively and safely be treated with…

  4. Substantial effects of epimuscular myofascial force transmission on muscular mechanics have major implications on spastic muscle and remedial surgery

    NARCIS (Netherlands)

    Yucesoy, C.A.; Huijing, P.A.J.B.M.

    2007-01-01

    The specific aim of this paper is to review the effects of epimuscular myofascial force transmission on muscular mechanics and present some new results on finite element modeling of non-isolated aponeurotomized muscle in order to discuss the dependency of mechanics of spastic muscle, as well as

  5. The Use of Botulinum Toxin for the Treatment of Muscle Spasticity in the First 2 Years of Life

    Science.gov (United States)

    Bakheit, Abdel Magid

    2010-01-01

    Although there are sound theoretical reasons for the use of botulinum toxin (Btx) as early as possible in the management of severe childhood muscle spasticity, the experience with its safety in children younger than 2 years of age is limited and information about its possible effects on the development and maturation of the human motor system…

  6. Evaluation of a training program for persons with SCI paraplegia using the Parastep 1 ambulation system: part 4. Effect on physical self-concept and depression.

    Science.gov (United States)

    Guest, R S; Klose, K J; Needham-Shropshire, B M; Jacobs, P L

    1997-08-01

    To determine whether persons with spinal cord injury (SCI) paraplegia who participated in an electrical stimulation walking program experienced changes in measures of physical self-concept and depression. Before-after trial. Human SCI applied research laboratory. Volunteer sample of 12 men and 3 women with SCI paraplegia, mean age 28.75 +/- 6.6yrs and mean duration of injury 3.8 +/- 3.2yrs. Thirty-two FNS ambulation training sessions using a commercially available system (Parastep 1). The hybrid system consists of a microprocessor-controlled stimulator and a modified walking frame with finger-operated switches that permit the user to control the stimulation parameters and activate the stepping. The Tennessee Self-Concept Scale (TSCS) and the Beck Depression Inventory (BDI) were administered before and after training. Only the Physical Self subscale of the TSCS was analyzed. After training, individual interviews were performed to assess participants' subjective reactions to the training program. A repeated measures analysis of variance indicated that desired directional and statistically significant changes occurred on the Physical Self subscale of the TSCS (F(1,14) = 8.54, p self-concept scores and decreases in depression scores.

  7. Subscales correlations between MSSS-88 and PRISM scales in evaluation of spasticity for patients with multiple sclerosis

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    Knežević Tatjana

    2017-01-01

    Full Text Available Introduction/Objective. Patient-reported outcomes have been recognized as an important way of assessing health and well-being of patients with multiple sclerosis (MS. The aim of the study is to determine the correlation between different subscales of Patient-Reported Impact of Spasticity Measure (PRISM and Multiple Sclerosis Spasticity Scale (MSSS-88 scales in the estimation of spasticity influence on different domains Methods. The study is a cross-sectional observational study. MSSS-88 and PRISM scales were analyzed in five domains (body-function domain, activity domain, participation domain, personal factors/wellbeing domain, and hypothesis. For statistical interpretation of the correlation we performed the Spearman’s ρ-test, concurrent validity, divergent validity, and the linear regression model. Results. We found a significant correlation between subscales of evaluated MSSS-88 and PRISM scales for body domains; the highest correlation was between the need for assistance/positioning (NA/P and walking (W. Spasticity has the weakest correlation with the need for intervention (NI. The presence of pain has a negative impact and significant positive correlation between pain discomfort and NI. In the domain of body function for males, there was a non-significant correlation between muscle spasms and NI. The same applies for social functioning and social embarrassment domains, as well as for emotional health and psychological agitation for personal factors / wellbeing domain. The differences between genders of MS patients persist in different domains; muscle spasms are strong predictors for NI, and body movement is a strong predictor versus W for NA/P. Conclusion. MSSS-88 and PRISM scales can be considered reliable in measuring different domains of disability for MS patients with spasticity. Because it is shorter, quicker, and simple to use, it is concluded that the PRISM scale can successfully compete with and replace the MSSS-88 scale in

  8. Effect of exoskeletal joint constraint and passive resistance on metabolic energy expenditure: Implications for walking in paraplegia.

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    Sarah R Chang

    Full Text Available An important consideration in the design of a practical system to restore walking in individuals with spinal cord injury is to minimize metabolic energy demand on the user. In this study, the effects of exoskeletal constraints on metabolic energy expenditure were evaluated in able-bodied volunteers to gain insight into the demands of walking with a hybrid neuroprosthesis after paralysis. The exoskeleton had a hydraulic mechanism to reciprocally couple hip flexion and extension, unlocked hydraulic stance controlled knee mechanisms, and ankles fixed at neutral by ankle-foot orthoses. These mechanisms added passive resistance to the hip (15 Nm and knee (6 Nm joints while the exoskeleton constrained joint motion to the sagittal plane. The average oxygen consumption when walking with the exoskeleton was 22.5 ± 3.4 ml O2/min/kg as compared to 11.7 ± 2.0 ml O2/min/kg when walking without the exoskeleton at a comparable speed. The heart rate and physiological cost index with the exoskeleton were at least 30% and 4.3 times higher, respectively, than walking without it. The maximum average speed achieved with the exoskeleton was 1.2 ± 0.2 m/s, at a cadence of 104 ± 11 steps/min, and step length of 70 ± 7 cm. Average peak hip joint angles (25 ± 7° were within normal range, while average peak knee joint angles (40 ± 8° were less than normal. Both hip and knee angular velocities were reduced with the exoskeleton as compared to normal. While the walking speed achieved with the exoskeleton could be sufficient for community ambulation, metabolic energy expenditure was significantly increased and unsustainable for such activities. This suggests that passive resistance, constraining leg motion to the sagittal plane, reciprocally coupling the hip joints, and weight of exoskeleton place considerable limitations on the utility of the device and need to be minimized in future designs of practical hybrid neuroprostheses for walking after paraplegia.

  9. Developmental Profiles of Preschool Children With Spastic Diplegic and Quadriplegic Cerebral Palsy

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    Ya-Chen Lee

    2010-07-01

    Full Text Available Cerebral palsy (CP is a disorder of movement and posture control with multiple impairments. The clinical manifestations of CP vary among children. The aim of this study was to compare the developmental profiles of preschool children with either of two types of CP: spastic diplegic (SD CP and spastic quadriplegic (SQ CP. Relationships between the children's various developmental functions were also investigated. We recruited 137 children with spastic CP, aged 1-5 years (mean age = 3.7 ± 2.1 years, and we classified them into two groups: SD (n = 59 and SQ (n = 78. The comparison group comprised 18 children with typical development. Developmental functions were assessed in all the children, using the Chinese Child Development Inventory with the updated norms. This scale addressed eight functional domains: gross motor ability, fine motor ability, expressive language ability, concept comprehension ability, situation comprehension ability, self-help ability, personal-social skills, and general development. A development quotient (DQ was determined for each domain as a percentage of the developmental age divided by the chronological age. The developmental profiles of the CP subtypes were found to differ. Children with SQ were found to have lower DQs than those with SD (p < 0.01. There was also a difference in the distribution of DQs between the SD and SQ groups, although the lowest DQ in both groups was for the gross motor domain. An uneven delay in the development of gross motor function was found in both groups of children with CP. Motor functions, including gross motor and fine motor functions, were significantly related to self-help ability. Complex and significant correlations among developmental functions were also identified in children with CP. The findings in the present study may allow clinicians to anticipate the developmental profile of children with CP on the basis of whether they have the SD or SQ subtype. This, in turn, is likely to

  10. Intrathecal baclofen pumps do not accelerate progression of scoliosis in quadriplegic spastic cerebral palsy.

    Science.gov (United States)

    Rushton, Paul R P; Nasto, Luigi A; Aujla, Ranjit K; Ammar, Amr; Grevitt, Michael P; Vloeberghs, Michael H

    2017-06-01

    To compare scoliosis progression in quadriplegic spastic cerebral palsy with and without intrathecal baclofen (ITB) pumps. A retrospective matched cohort study was conducted. Patients with quadriplegic spastic cerebral palsy, GMFCS level 5, treated with ITB pumps with follow-up >1 year were matched to comparable cases by age and baseline Cobb angle without ITB pumps. Annual and peak coronal curve progression, pelvic obliquity progression and need for spinal fusion were compared. ITB group: 25 patients (9 female), mean age at pump insertion 9.4 and Risser 0.9. Initial Cobb angle 25.6° and pelvic tilt 3.2°. Follow-up 4.3 (1.0-7.8) years. Cobb angle at follow-up 76.1° and pelvic tilt 18.9°. Non-ITB group: 25 patients (14 female), mean age at baseline 9.2 and Risser 1.0. Initial Cobb angle 29.7° and pelvic tilt 7.1°. Follow-up 3.5 (1.0-7.5) years. Cobb angle at follow-up 69.1° and pelvic tilt 21.0°. The two groups were statistically similar for baseline age, Cobb angle and Risser grade. Mean curve progression was 13.6°/year for the ITB group vs 12.6°/year for the non-ITB group (p = 0.39). Peak curve progression was similar between the groups. Pelvic tilt progression was comparable; ITB group 4.5°/year vs non-ITB 4.6°/year (p = 0.97). During follow-up 5 patients in the ITB group and 9 in the non-ITB group required spinal fusion surgery for curve progression (p = 0.35). Patients with quadriplegic spastic cerebral palsy with and without ITB pumps showed significant curve progression over time. ITB pumps do not appear to alter the natural history of curve progression in this population.

  11. [Effects of acupuncture on quality of life in children with spastic cerebral palsy].

    Science.gov (United States)

    Liu, Zhen-huan; Pan, Pei-guang; Ma, Mei-mei

    2007-03-01

    To investigate the effect of acupuncture in children with spastic cerebral palsy (SCP). One hundred SCP children, 2 to 7 years old, were randomly assigned to two groups equally. The control group was treated with rehabilitation training using Bobath and Vojta physical training methods and the acupuncture group treated also with the same training but with acupuncture conducted additionally. The therapeutic course was 3-12 months arranged according to the state of illness. The total effective rate, development quotient (DQ), improvement rate of brain hypogenesis and atrophy showed by skull CT, and recovery rate of cerebral emission computed tomography (ECT) were all higher in the acupuncture group than those in the control group (all P cerebral function and shows a favorable effect in improving quality of life of the children with SCP.

  12. Effect of Adding Swedish Massage to Occupational Therapy on Muscle Tone of Spastic Cerebral Palsied Children

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    Firouzeh Sajedi

    2007-10-01

    Full Text Available Objective: Cerebral palsy is a nonprogressive disorder in body posture and movement, due to different etiologies. Different medical and rehabilitation interventions include massage have been used in these children. This study has been done to determine the effect of adding massage to occupational therapy on muscle tone of children with spastic cerebral palsy. Materials & Methods: This study was a double blind clinical trial. The children were recruited from clinics of University of Welfare & Rehabilitation Sciences. The individuals were divided to intervention and control groups. The routine rehabilitation techniques were done in 3 months in both groups. The intervention group received massage for 30 minutes before rehabilitation. Muscle tonicity was evaluated at the beginning of the study and 3 months later by Ashworth test. The data analysis was done by parametric (t test, paired t test and nonparametric (Mann Whitney, Wilcoxon tests. Results: Thirteen subjects of case (intervention group and 14 subjects of control group were studied. The average age in case group and control group was 49.5, and 42.1 months respectively. There were no statistically significant differences in Tonicity of upper and lower limbs, trunk and neck between intervention group and control group (P>0/05. Conclusion: In general based on the results of this study, adding massage to occupational therapy had no effect on tonicity of spastic cerebral palsied children. Regarding to some effects of massage mentioned in different articles on physical abilities of children with C.P. as well as executive limitations in this research, it is not possible to reject the effects of homeopathy on physical abilities of children with C.P.

  13. The effect of hippotherapy on gait in patients with spastic cerebral palsy

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    Veronika Fízková

    2013-12-01

    Full Text Available BACKGROUND: Disorders of motor skills, especially regarding gait, are prevalent in nearly all forms of cerebral palsy. Through a horse’s back movement, the patient is exposed to proprioceptive stimulation, thus improvement in gait performance could be expected. OBJECTIVE: The aim of our study was to determine the effect of hippotherapy on gait in patients with spastic cerebral palsy. METHODS: Eleven subjects (age 14.3 ± 4.8 years, height 148.2 ± 17.6 cm, weight 43.3 ± 20.2 kg with spastic cerebral palsy participated in the study. Gait assessment was performed before and after a weeklong stay. The hippotherapy was conducted daily. Kinematic data from three trials for each child was obtained using the Vicon MX system (seven infrared cameras, frequency 200 Hz. Comparison of ankle, knee, hip and pelvis movement before and after hippotherapy intervention was performed in Statistica (version 10.0 using the Wilcoxon test. To determine the effect size, Cohen’s d was used. RESULTS: After completing the short-term hippotherapy intervention, we observed a decrease in the second plantar flexion during initial swing (p < .05, decrease in knee flexion during the stance phase (p < .05, decrease in the hip range of motion in sagittal plane (p < .05 and decrease in the pelvic obliquity (p < .05. The effect size for all statistically significant differences was low. CONCLUSIONS: Hippotherapy combined with individually defined physiotherapy can lead to some changes in bipedal locomotion in terms of improvement and thus contribute to greater self-sufficiency, self-reliance and independence of patients with cerebral palsy.

  14. F-18-fluoride PET for early diagnosis and evaluation of therapeutic outcome in patients with heterotopic ossification (HO) after recent paraplegia due to spinal cord injury

    International Nuclear Information System (INIS)

    Baum, R.P.; Niesen, A.; Schmuecking, M.; Przetak, C.; Ruhwedel, H.; Boehm, H.

    2002-01-01

    Aim: Heterotopic ossification (HO) is the presence of bone in soft tissue. The acquired form of HO most frequently is seen with either musculoskeletal trauma, spinal cord injury or central nervous system injury. Fever, swelling, erythema, and occasional joint tenderness seen in early HO can be difficult to distinguish from cellulitis, osteomyelitis or thrombophlebitis. As compared to paraplegia alone, combination of HO and paraplegia, especially excessive delay of diagnosis, is associated with a significantly higher incidence for thrombosis, immobilization, decubitus leading to a reduced expectation and quality of life. To evaluate the role of F-18-fluoride PET for the early diagnosis and the evaluation of the therapeutic outcome, 38 patients (56 PET examinations) were analyzed prospectively. Material and Methods: Within 8 weeks after acquired paraplegia, each patient was studied by F-18-fluoride PET in addition to clinical, serologic and conventional radiographic examinations. Whole-body PET studies (ECAT Exact 47, attenuation corrected, iterative reconstruction) were obtained 150 min. after injection of 12 MBq F-18-fluoride/kg body weight. For semi-quantitative analysis, standardized-uptake values (SUV) and the metabolic transverse diameters (MTD) of the lesions were assessed. To prevent post-traumatic neurogenic HO, patients received physiotherapy and NSA (indomethacin 3 x 50 mg per day for 4 months). In addition, external beam radiation therapy (EBRT, 1x7 Gy according to ICRU) was administered, if PET demonstrated HO. Therapeutic outcome was compared with a historical group of patients receiving only physiotherapy. Kaplan-Meier-Method, log-rank-, chi-square- and Wilcoxon-test were used for statistical analyses. Results: In the course of HO, 4/38 patients received EBRT with 1x7 Gy for a second time due to an increasing SUV and/or MTD and rising levels of alkaline phosphatase. Within a follow-up period of at least 30 months, none of the patients showed clinical

  15. Clinical and socio-demographic characteristics of persons with traumatic paraplegia living in São Paulo, Brazil Características clínicas e sócio demográficas de pessoas com paraplegia traumática na cidade de São Paulo

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    Leila Blanes

    2009-06-01

    Full Text Available OBJECTIVE: To evaluate the clinical profile of individuals with paraplegia living in São Paulo, Brazil. METHOD: The sample consisted of 60 outpatients with traumatic paraplegia from whom clinical and demographic data were obtained. RESULTS: The patients were predominately men (86.7%, single (61.7%, with mean age of 32.9 (SD=9.47 years, and complete or incomplete primary education (63.3%. Although 41.7% were born in different states, all patients were current residents of São Paulo, Brazil. The most frequent cause of paraplegia was firearm injury (63.3% followed by car accident (20%. The most common complications observed in the patients were urinary (88.3% and anal (45% incontinence, muscle spasm (65%, and pressure ulcers (26.7%. CONCLUSION: The data revealed that the sample consisted predominantly of young males with low education level, showing complications due to SCI, and who were victims of urban violence.OBJETIVO: Avaliar o perfil de paraplégicos que vivem na cidade de São Paulo. MÉTODO: Foram incluídos 60 paraplégicos por causa traumática. O instrumento de coleta de dados constava de dados demográficos e clínicos. RESULTADOS: A maioria era do sexo masculino (86,7%, com média de idade igual a 32,9 (DP=9,47 anos, sendo 61,7% solteiros. Em relação à naturalidade 41,7% nasceram em outros estados, porém todos residiam em São Paulo. A causa mais freqüente da paraplegia foi por ferimento por arma de fogo (63,3%, seguida por acidente automobilístico (20%. Quanto às complicações decorrentes da lesão medular, destaca-se a presença de incontinência urinária (88,3% e anal (45%, o espasmo muscular (65% e a úlcera por pressão (26,7%. CONCLUSÃO: Os resultados encontrados permitiram verificar uma amostra de pessoas em sua maioria do sexo masculino, jovem, com baixa escolaridade e que apresentam complicações decorrentes da lesão medular e em grande parte, vítimas da violência dos grandes centros urbanos.

  16. KAPS (kinematic assessment of passive stretch): a tool to assess elbow flexor and extensor spasticity after stroke using a robotic exoskeleton.

    Science.gov (United States)

    Centen, Andrew; Lowrey, Catherine R; Scott, Stephen H; Yeh, Ting-Ting; Mochizuki, George

    2017-06-19

    Spasticity is a common sequela of stroke. Traditional assessment methods include relatively coarse scales that may not capture all characteristics of elevated muscle tone. Thus, the aim of this study was to develop a tool to quantitatively assess post-stroke spasticity in the upper extremity. Ninety-six healthy individuals and 46 individuals with stroke participated in this study. The kinematic assessment of passive stretch (KAPS) protocol consisted of passive elbow stretch in flexion and extension across an 80° range in 5 movement durations. Seven parameters were identified and assessed to characterize spasticity (peak velocity, final angle, creep (or release), between-arm peak velocity difference, between-arm final angle, between-arm creep, and between-arm catch angle). The fastest movement duration (600 ms) was most effective at identifying impairment in each parameter associated with spasticity. A decrease in peak velocity during passive stretch between the affected and unaffected limb was most effective at identifying individuals as impaired. Spasticity was also associated with a decreased passive range (final angle) and a classic 'catch and release' as seen through between-arm catch and creep metrics. The KAPS protocol and robotic technology can provide a sensitive and quantitative assessment of post-stroke elbow spasticity not currently attainable through traditional measures.

  17. Ankle Plantarflexor Spasticity Does Not Restrict the Recovery of Ankle Plantarflexor Strength or Ankle Power Generation for Push-Off During Walking Following Traumatic Brain Injury.

    Science.gov (United States)

    Williams, Gavin; Banky, Megan; Olver, John

    2016-01-01

    The main aim of this project was to determine the impact of plantarflexor spasticity on muscle performance for ambulant people with traumatic brain injury (TBI). A large metropolitan rehabilitation hospital. Seventy-two ambulant people with TBI who were attending physiotherapy for mobility limitations. Twenty-four participants returned for a 6-month follow-up reassessment. Cross-sectional cohort study. Self-selected walking speed, Tardieu scale, ankle plantarflexor strength, and ankle power generation (APG). Participants with ankle plantarflexor spasticity had significantly lower self-selected walking speed; however, there was no significant difference in ankle plantarflexor strength or APG. Participants with ankle plantarflexor spasticity were not restricted in the recovery of self-selected walking speed, ankle plantarflexor strength, or APG, indicating equivalent ability to improve their mobility over time despite the presence of spasticity. Following TBI, people with ankle plantarflexor spasticity have significantly greater mobility limitations than those without spasticity, yet retain the capacity for recovery of self-selected walking speed, ankle plantarflexor strength, and APG.

  18. Paraplegia and the shoulder.

    Science.gov (United States)

    Hastings, Jennifer; Goldstein, Barry

    2004-08-01

    Among consumers, families, therapists, physicians, and other rehabilitation professionals, there has been an increasing interest in shoulder pain associated with spinal cord injury. These disorders primarily affect the soft tissues, including the tendons (eg, rotator cuff tendonitis and bicipital tendinitis), muscles (eg, myalgias and myofascial pain syndromes), and bursae. Disorders of bone and joints also have been of interest (eg, osteoporosis and osteoarthritis of the acromioclavicular and glenohumeral joints). This article addresses the historical context, epidemiology, pathophysiology,diagnosis, prevention, and treatment of shoulder pain as it relates to patients with spinal cord injury.

  19. Expanding phenotype of p.Ala140Val mutation in MECP2 in a 4 generation family with X-linked intellectual disability and spasticity.

    Science.gov (United States)

    Lambert, Sophie; Maystadt, Isabelle; Boulanger, Sébastien; Vrielynck, Pascal; Destrée, Anne; Lederer, Damien; Moortgat, Stéphanie

    2016-10-01

    Mutations in MECP2 (MIM #312750), located on Xq28 and encoding a methyl CpG binding protein, are classically associated with Rett syndrome in female patients, with a lethal effect in hemizygous males. However, MECP2 mutations have already been reported in surviving males with severe neonatal-onset encephalopathy, or with X-linked intellectual disability associated with psychosis, pyramidal signs, parkinsonian features and macro-orchidism (PPM-X syndrome; MIM3 #300055). Here we report on the identification of the p.Ala140Val mutation in the MECP2 gene in 4 males and 3 females of a large Caucasian family affected with X-linked intellectual disability. Females present with mild cognitive impairment and speech difficulties. Males have moderate intellectual disability, impaired language development, friendly behavior, slowly progressive spastic paraparesis and dystonic movements of the hands. Two of them show microcephaly. The p.Ala140Val mutation is recurrent, as it was already described in 4 families with X-linked mental retardation and in three sporadic male patients with intellectual disability. We further delineate the phenotype associated with the p.Ala140Val mutation, illustrating a variable expressivity even within a given family, and we compare our patients with previous reported cases in the literature. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  20. Common γ-chain blocking peptide reduces in vitro immune activation markers in HTLV-1-associated myelopathy/tropical spastic paraparesis.

    Science.gov (United States)

    Massoud, Raya; Enose-Akahata, Yoshimi; Tagaya, Yutaka; Azimi, Nazli; Basheer, Asjad; Jacobson, Steven

    2015-09-01

    Human T-cell lymphotropic virus type 1 (HTLV-1)-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a progressive inflammatory myelopathy occurring in a subset of HTLV-1-infected individuals. Despite advances in understanding its immunopathogenesis, an effective treatment remains to be found. IL-2 and IL-15, members of the gamma chain (γc) family of cytokines, are prominently deregulated in HAM/TSP and underlie many of the characteristic immune abnormalities, such as spontaneous lymphocyte proliferation (SP), increased STAT5 phosphorylation in the lymphocytes, and increased frequency and cytotoxicity of virus-specific cytotoxic CD8(+) T lymphocytes (CTLs). In this study, we describe a novel immunomodulatory strategy consisting of selective blockade of certain γc family cytokines, including IL-2 and IL-15, with a γc antagonistic peptide. In vitro, a PEGylated form of the peptide, named BNZ132-1-40, reduced multiple immune activation markers such as SP, STAT5 phosphorylation, spontaneous degranulation of CD8(+) T cells, and the frequency of transactivator protein (Tax)-specific CD8(+) CTLs, thought to be major players in the immunopathogenesis of the disease. This strategy is thus a promising therapeutic approach to HAM/TSP with the potential of being more effective than single monoclonal antibodies targeting either IL-2 or IL-15 receptors and safer than inhibitors of downstream signaling molecules such as JAK1 inhibitors. Finally, selective cytokine blockade with antagonistic peptides might be applicable to multiple other conditions in which cytokines are pathogenic.

  1. INTERFERON BETA-1A TREATMENT IN HTLV-1-ASSOCIATED MYELOPATHY/TROPICAL SPASTIC PARAPARESIS: A CASE REPORT

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    Graça Maria de Castro Viana

    2014-09-01

    Full Text Available Here a young patient (< 21 years of age with a history of infective dermatitis is described. The patient was diagnosed with myelopathy associated with HTLV-1/tropical spastic paraparesis and treated with interferon beta-1a. The disease was clinically established as HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP, and laboratory tests confirmed the presence of antibodies to HTLV-1 in the cerebrospinal fluid (CSF. Mumps, cytomegalovirus, Epstein-Barr virus, schistosomiasis, herpes virus 1 and 2, rubella, measles, varicella-zoster toxoplasmosis, hepatitis, HIV, and syphilis were excluded by serology. The patient was diagnosed with neurogenic bladder and presented with nocturia, urinary urgency, paresthesia of the lower left limb, a marked reduction of muscle strength in the lower limbs, and a slight reduction in upper limb strength. During the fourth week of treatment with interferon beta-1a, urinary urgency and paresthesia disappeared and clinical motor skills improved.

  2. Evaluating the functional outcomes of ultrasound-guided botulinum toxin type A injections using the Euro-musculus approach for upper limb spasticity treatment in post-stroke patients; an observational study.

    Science.gov (United States)

    Buyukavci, Raikan; Akturk, Semra; Ersoy, Yüksel

    2018-02-07

    Ultrasound-guided botulinum toxin type A injection is an effective treatment for spasticity. Euro-musculus spasticity approach is a new method for administering injections to the correct point of the correct muscle. The clinical outcomes of this practical approach is not yet available in the literature. The purpose of this study was to evaluate the effects on spasticity and the functional outcomes of ultrasound guided botulinum toxin type A injections via the Euro-musculus spasticity approach to treat upper limb spasticity in post-stroke patients. An observational study. Inpatient post-stroke patients. Twenty five post-stroke patients with post-stroke upper limb spasticity were recruited. The ultrasound-guided botulinum toxin type A injections were administered into the spastic target muscles using the Euro-musculus spasticity approach, and all of the patients were enrolled in rehabilitation programmes after the injections. This research included the innervation zone and injection site figures and ultrasound images of each muscle in the upper limb. The degree of spasticity was assessed via the Modified Ashworth Scale and the upper limb motor function via the Fugl Meyer Upper Extremity Scale at the baseline and 4 and 12 weeks after the botulinum toxin type A injection. Significant decreases in the Modified Ashworth Scale scores of the upper limb flexor muscle tone measured 4 and 12 weeks after the botulinum toxin type A injection were found when compared to the baseline scores (pbotulinum toxin type A injection via the Euro- musculus spasticity approach is a practical and effective method for administering injections to the correct point of the correct muscle. Ultrasound-guided botulinum toxin type A injections combined with rehabilitation programmes decrease spasticity and improve the upper extremity motor functions in stroke patients. This new approach for ultrasound- guided botulinum toxin type A injection is very practical and effective method for upper

  3. Robot-Assisted Rehabilitation of Ankle Plantar Flexors Spasticity: A Three-Month Study with Proprioceptive Neuromuscular Facilitation

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    Zhihao Zhou

    2016-11-01

    Full Text Available In this paper, we aim to investigate the effect of Proprioceptive Neuromuscular Facilitation (PNF based rehabilitation for ankle plantar flexors spasticity by using a Robotic Ankle-foot Rehabilitation System (RARS. A modified robot-assisted system was proposed and seven post-stroke patients with hemiplegic spastic ankles participated a three-month of robotic PNF training. Their impaired sides were used as the experimental group while their unimpaired sides as the control group. A robotic intervention for the experimental group generally started from a two minutes passive stretching to warm-up or relax the soleus and gastrocnemius muscle and also ended with the same one. Then a PNF training session included 30 trails was activated between them. The rehabilitation trainings were carried out three times a week as an addition of their regular rehabilitation exercise. Passive ankle joint range of motion, resistance torque and stiffness were measured in both ankles before and after the intervention. The changes in Achilles' tendon length, walking speed, and lower limb function were also evaluated by the same physician or physiotherapist for each participant. Biomechanical measurements before interventions showed significant difference between the experimental group and the control group due to ankle spasticity. For the control group, there was no significant difference in the three months with no robotic intervention. But for the experimental group, passive dorsiflexion range of motion increased ( p0.05 . The robotic rehabilitation also improved the muscle strength ( p0.05 and fast walking speed ( p<0.05 . These results indicated that PNF based robotic intervention could significantly alleviate lower limb spasticity and improve the motor function in chronic stroke participant. The robotic system could potentially be used as an effective tool in post-stroke rehabilitation training.

  4. The effect of Bobath approach on the excitability of the spinal alpha motor neurones in stroke patients with muscle spasticity.

    Science.gov (United States)

    Ansari, N N; Naghdi, S

    2007-01-01

    A clinical study was performed to evaluate the efficacy of the Bobath approach on the excitability of the spinal alpha motor neurones in patients with poststroke spasticity. Ten subjects ranging in age from 37 through 76 years (average 60 years) with ankle plantarflexor spasticity secondary to a stroke were recruited and completed the trial. They had physiotherapy according to Bobath concept for ten treatment sessions, three days per week. Two repeated measures, one before and another after treatment, were taken to quantify clinical efficacy. The effect of this type of therapy on the excitability of alpha motor neurones (aMN) was assessed by measuring the latency of the Hoffmann reflex (H-reflex) and the Hmax/Mmax ratio. The original Ashworth scale and ankle range of motion were also measured. The mean HmaxlMmax ratio on the affected side at baseline was high in the study patients. However, there were no statistically significant differences in the HmaxlMmax ratio or in the H-reflex latency between the baseline values and those recorded after therapy intervention. Before treatment, the HmaxlMmax ratio was significantly higher in the affected side than in the unaffected side. However, it was similar at both sides after treatment. Following treatment, the significant reduction in spasticity was clinically detected as measured with the original Ashworth scale. The ankle joint active and passive range of motion was significantly increased. In conclusion, Bobath therapy had a statistically significant effect on the excitability of the aMN in the affected side compared to the unaffected side in stroke patients with muscle spasticity.

  5. The Effect of Resistance Training on Performance of Gross Motor Skills and Balance in Children with Spastic Cerebral Palsy

    OpenAIRE

    Ebrahim Zarrinkalam; Majid Ebadi Fara

    2016-01-01

    Objective: Cerebral palsy is the most common chronic motor disability in children and can have negative effect on motor functions. The purpose of this study was to investigate the effect of eight weeks resistance training on gross motor ability, balance and walking speed in a group of such children. Methods: 21 cerebral palsy boys with spastic diplegia, aged between 12 and 16 years (mean, 13.66 years), participated in this study. A pre-test, involving walking, sitting, standing and walkin...

  6. Cannabis as a Possible Treatment for Spasticity in Multiple Sclerosis / Kanabis Kao Moguci Tretman U Lecenju Spasticnosti Kod Multiple Skleroze

    Directory of Open Access Journals (Sweden)

    Vesic Katarina

    2016-03-01

    Full Text Available The therapeutic potential of cannabis has been known for centuries. Cannabinoids express their effects through two types of receptors, cannabinoid receptor 1 (CB1 and cannabinoid receptor 2 (CB2. Present studies indicate that cannabis-based drugs can make a positive impact in the treatment of different diseases. For many years, multiple sclerosis patients have self-medicated with illegal street cannabis to alleviate spasticity, a common and debilitating symptom that impairs quality of life.

  7. Evaluation of low-level laser therapy in the treatment of masticatory muscles spasticity in children with cerebral palsy

    Science.gov (United States)

    Santos, Maria Teresa Botti Rodrigues; Diniz, Michele Baffi; Gouw-Soares, Sheila Cynthia; Lopes-Martins, Rodrigo Alvaro Brandão; Frigo, Lucio; Baeder, Fernando Martins

    2016-02-01

    Spasticity is a motor disorder frequently present in individuals with cerebral palsy (CP). This study aimed to evaluate the effect of low-level laser therapy (LLLT) on the spasticity of the masseter and anterior temporal muscle fibers in children with CP over three weeks of intermittent laser exposures. The bite force (BF) of the masticatory muscles and the amplitude of mouth opening were evaluated before and after laser irradiation in 30 children with CP. Both sides of the masseter and temporalis muscles were irradiated with low-intensity diode laser pulses of 808-nm wavelength six times over three consecutive weeks. During the subsequent three weeks of postlaser exposures, although no laser treatment was applied, the evaluation parameters were measured and recorded. A significant improvement in the amplitude of mouth opening and a decrease in the BF were observed in the weeks following LLLT (Peffective short-term therapeutic tool. This method increased the amplitude of mouth opening and decreased the muscle tonus of children with spastic CP over a time course of three weeks of intermittent laser applications.

  8. The effect and complication of botulinum toxin type a injection with serial casting for the treatment of spastic equinus foot.

    Science.gov (United States)

    Lee, Sook Joung; Sung, In Young; Jang, Dae Hyun; Yi, Jin Hwa; Lee, Jin Ho; Ryu, Ju Seok

    2011-06-01

    To identify the effect of serial casting combined with Botulinum toxin type A (BTX-A) injection on spastic equinus foot. Twenty-nine children with cerebral palsy who had equinus foot were recruited from the outpatient clinic of Rehabilitation Medicine. The children were divided into 2 groups, one of which received serial casting after BTX-A injection, and the other which only received BTX-A injection. Serial casting started 3 weeks after the BTX-A injection, and was changed weekly for 3 times. Spasticity of the ankle joint was evaluated using the modified Ashworth scale (MAS), and the modified Tardieu scale (MTS). Gait pattern was measured using the physician's rating scale (PRS). The degree of ankle dorsiflexion and the MAS improved significantly until 12 weeks following the BTX-A injection in the serial casting group (pcasting. Our study demonstrated that the effect of BTX-A injection with serial casting was superior and lasted longer than the effect of BTX-A injection only in patients with spastic equinus foot. We therefore recommend BTX-A injection with serial casting for the treatment of equinus foot. However, physicians must also consider the possible complications associated with serial casting.

  9. Assessment Impact of Foot Sensory Modulation on Inhibition of Hypertonicity of the Lower Limb in Children with Diplegia Spastic

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    Saeed Fatoureh-Chi

    2005-01-01

    Full Text Available Objective: The purpose of this study was to assess impact of foot sensory modulation on inhibition of hypertonicity of the lower limb in children with diplegia spastic cerebral palsy. Materials & Methods: 24 selected children (aged 2.5 to 4.5 years were randomly assigned to a control and experimental groups. Muscle tone was assessed using modified Ashworth scale, passive Range of motion by goniameter (Pedretti, neurodevelopmental level by Bobath scale. All children were pre-post tested in an interval of ten weeks. Results: Significant reduction was observed in hypertonicity of hip extensor (p<0/1 and ankle planter flexor (P<0/05. Significant increase was observed in passive Range of motion of hip flexion (P<0/1, knee extension (P<0/05 and ankle dorsi flexion (P<0/05. There was found no significant difference of reduction in hypertonicity of knee flexor and improvement neurodevelopmental level. Meaningful relationship was observed between reduction hypertonicity of the hip extensor (P<0/05 and improvement of neurodevelopmental level (P<0/05. Conclusion: Impact of sensory modulation on children with diplegia spastic cerebral palsy reduces spasticity of lower limb and also extends joints domain of motion.

  10. Changes in skeletal muscle perfusion and spasticity in patients with poststroke hemiparesis treated by robotic assistance (Gloreha) of the hand.

    Science.gov (United States)

    Bissolotti, Luciano; Villafañe, Jorge Hugo; Gaffurini, Paolo; Orizio, Claudio; Valdes, Kristin; Negrini, Stefano

    2016-03-01

    [Purpose] The purpose of this case series was to determine the effects of robot-assisted hand rehabilitation with a Gloreha device on skeletal muscle perfusion, spasticity, and motor function in subjects with poststroke hemiparesis. [Subjects and Methods] Seven patients, 2 women and 5 men (mean ± SD age: 60.5 ±6.3 years), with hemiparesis (>6 months poststroke), received passive mobilization of the hand with a Gloreha (Idrogenet, Italy), device (30 min per day; 3 sessions a week for 3 weeks). The outcome measures were the total hemoglobin profiles and tissue oxygenation index (TOI) in the muscle tissue evaluated through near-infrared spectroscopy. The Motricity Index and modified Ashworth Scale for upper limb muscles were used to assess mobility of the upper extremity. [Results] Robotic assistance reduced spasticity after the intervention by 68.6% in the upper limb. The Motricity Index was unchanged in these patients after treatment. Regarding changes in muscle perfusion, significant improvements were found in total hemoglobin. There were significant differences between the pre- and posttreatment modified Ashworth scale. [Conclusion] The present work provides novel evidence that robotic assistance of the hand induced changes in local muscle blood flow and oxygen supply, diminished spasticity, and decreased subject-reported symptoms of heaviness and stiffness in subjects with post-stroke hemiparesis.

  11. Classification of upper limb disability levels of children with spastic unilateral cerebral palsy using K-means algorithm.

    Science.gov (United States)

    Raouafi, Sana; Achiche, Sofiane; Begon, Mickael; Sarcher, Aurélie; Raison, Maxime

    2018-01-01

    Treatment for cerebral palsy depends upon the severity of the child's condition and requires knowledge about upper limb disability. The aim of this study was to develop a systematic quantitative classification method of the upper limb disability levels for children with spastic unilateral cerebral palsy based on upper limb movements and muscle activation. Thirteen children with spastic unilateral cerebral palsy and six typically developing children participated in this study. Patients were matched on age and manual ability classification system levels I to III. Twenty-three kinematic and electromyographic variables were collected from two tasks. Discriminative analysis and K-means clustering algorithm were applied using 23 kinematic and EMG variables of each participant. Among the 23 kinematic and electromyographic variables, only two variables containing the most relevant information for the prediction of the four levels of severity of spastic unilateral cerebral palsy, which are fixed by manual ability classification system, were identified by discriminant analysis: (1) the Falconer index (CAI E ) which represents the ratio of biceps to triceps brachii activity during extension and (2) the maximal angle extension (θ Extension,max ). A good correlation (Kendall Rank correlation coefficient = -0.53, p = 0.01) was found between levels fixed by manual ability classification system and the obtained classes. These findings suggest that the cost and effort needed to assess and characterize the disability level of a child can be further reduced.

  12. SPASTICITY PATTERNS OF HAND MUSCLES AND BOTULINUM TOXIN THERAPY APPLICATION IN PATIENTS WITH CEREBRAL PALSY WITH UPPER LIMB INVOLVEMENT

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    O. A. Klochkova

    2013-01-01

    Full Text Available Botulinum toxin therapy is an effective and safe method of treatment of local spasticity in patients with cerebral palsy (CP. Calculation of botulinum toxin A (BTA dosage based on the spasticity patterns and functional capabilities of the patient proved effective for the hypertonic lower limb muscle spasm treatment and is being applied to BTA injections in hand muscles more often. The article presents contemporary scientific data and results of the original study of BTA injections efficacy for pathologic tension reduction in hand muscles of 52 patients with CP. The authors give detailed description of the upper limb spasticity patterns, their frequency and role in the pathological movement pattern formation. The authors propose BTA dosage calculation for the functional segments of upper limbs, which allows minimizing the total amount of the administered drug and avoiding excessive weakness. The authors have also conducted a follow-up analysis of changes in hand muscle tone for the period of 6 months after the first BTA injection, compared results of botulinum toxin therapy at various clinical forms of CP and given recommendations on the optimum duration of the follow-up period.

  13. Brain magnetic resonance imaging and motor and intellectual functioning in 86 patients born at term with spastic diplegia.

    Science.gov (United States)

    Numata, Yurika; Onuma, Akira; Kobayashi, Yasuko; Sato-Shirai, Ikuko; Tanaka, Soichiro; Kobayashi, Satoru; Wakusawa, Keisuke; Inui, Takehiko; Kure, Shigeo; Haginoya, Kazuhiro

    2013-02-01

    To investigate the association between magnetic resonance imaging (MRI) patterns and motor function, epileptic episodes, and IQ or developmental quotient in patients born at term with spastic diplegia. Eighty-six patients born at term with cerebral palsy (CP) and spastic diplegia (54 males, 32 females; median age 20 y, range 7-42 y) among 829 patients with CP underwent brain MRI between 1990 and 2008. The MRI and clinical findings were analysed retrospectively. Intellectual disability was classified according to the Enjoji developmental test or the Wechsler Intelligence Scale for Children (3rd edition). The median ages at diagnosis of CP, assignment of Gross Motor Function Classification System (GMFCS) level, cognitive assessment, and MRI were 2 years (range 5 mo-8 y), 6 years (2 y 8 mo-19 y), 6 years (1 y 4 mo-19 y), and 7 years (10 mo-30 y) respectively. MRI included normal findings (41.9%), periventricular leukomalacia, hypomyelination, and porencephaly/periventricular venous infarction. The frequency of patients in GMFCS levels III to V and intellectual disability did not differ between those with normal and abnormal MRI findings. Patients with normal MRI findings had significantly fewer epileptic episodes than those with abnormal ones (p=0.001). Varied MRI findings, as well as the presence of severe motor dysfunction and intellectual disability (despite normal MRI), suggest that patients born at term with spastic diplegia had heterogeneous and unidentified pathophysiology. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

  14. Clinical Observation on Treatment of Spastic Cerebral Palsy with Tuina plus Music Therapy

    Institute of Scientific and Technical Information of China (English)

    马美美; 刘振寰; 赵勇; 罗冠君; 李诺; 招文健; 万瑞平; 韩丑萍

    2009-01-01

    目的:观察小儿推拿结合音乐疗法对改善痉挛型小儿脑性瘫痪患者踝关节活动度及下肢肌肉痉挛的作用.方法:对符合小儿脑性瘫痪诊断标准的286例痉挛型患儿,在背景音乐下进行通督循经点穴推拿、益肾健脾推拿、捏脊疗法、足底推拿、节段性推拿、促肌力恢复推拿及关节活动度推拿7种推拿治疗,每次25~30min,每日1~2次.30天为1个疗程.于治疗前后进行股内收肌角、足背屈角和综合痉挛量表(CompositeSpastic@Scale,CSS)评分,以评价疗效.结果:治疗前后足背屈角、股内收肌角、CSS评分统计学处理,差异有统计学意义(P<0.01).总体疗效为显效106例,有效172例,无效8例.结论:推拿结合音乐疗法治疗痉挛型小儿脑瘫,有滑利关节,松解肌腱挛缩,缓解肌肉痉挛作用,能改善剪刀步态和尖足步态.对患儿坐、跪、站、行大运动功能恢复有极积治疗作用.%Objective: To observe the effect oftuina plus music therapy on range of motion of ankle joints and muscle spasm of lower limbs in children with spastic cerebral palsy. Method:All of 286 cases that conformed to the diagnostic criteria of infantile cerebral palsy were treated with 7 types of tuina manipulations respectively to unblock the Governor Vessel, reinforce the kidney and strengthen the spleen, pinch along the spine, stimulate specific foot-reflex area and different spinal segments, accelerate recovery of muscle strength and increase joint range of motion, 25-30 rain each treatment, once or twice a day, 30 d constitute a course of treatment.After this, the efficacy on femoral medial adduction and dorsiflexion angle and composite spasticity score (CSS) was evaluated. Result: The statistical analysis showed significant differences in dorsiflexion and femoral medial adduction angle and CCS scores (P<0.01) after the treatments. Conclusion: Tuina plus music therapy can lubricate the joints, relax contraction of tendons, alleviate

  15. Muscle activation patterns when passively stretching spastic lower limb muscles of children with cerebral palsy.

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    Lynn Bar-On

    Full Text Available The definition of spasticity as a velocity-dependent activation of the tonic stretch reflex during a stretch to a passive muscle is the most widely accepted. However, other mechanisms are also thought to contribute to pathological muscle activity and, in patients post-stroke and spinal cord injury can result in different activation patterns. In the lower-limbs of children with spastic cerebral palsy (CP these distinct activation patterns have not yet been thoroughly explored. The aim of the study was to apply an instrumented assessment to quantify different muscle activation patterns in four lower-limb muscles of children with CP. Fifty-four children with CP were included (males/females n = 35/19; 10.8 ± 3.8 yrs; bilateral/unilateral involvement n =  32/22; Gross Motor Functional Classification Score I-IV of whom ten were retested to evaluate intra-rater reliability. With the subject relaxed, single-joint, sagittal-plane movements of the hip, knee, and ankle were performed to stretch the lower-limb muscles at three increasing velocities. Muscle activity and joint motion were synchronously recorded using inertial sensors and electromyography (EMG from the adductors, medial hamstrings, rectus femoris, and gastrocnemius. Muscles were visually categorised into activation patterns using average, normalized root mean square EMG (RMS-EMG compared across increasing position zones and velocities. Based on the visual categorisation, quantitative parameters were defined using stretch-reflex thresholds and normalized RMS-EMG. These parameters were compared between muscles with different activation patterns. All patterns were dominated by high velocity-dependent muscle activation, but in more than half, low velocity-dependent activation was also observed. Muscle activation patterns were found to be both muscle- and subject-specific (p<0.01. The intra-rater reliability of all quantitative parameters was moderate to good. Comparing RMS-EMG between

  16. S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model

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    Pingting Liu

    2017-01-01

    Full Text Available The S113R mutation (c.339T>G (MIM #603690.0001 in SLC33A1 (MIM #603690, an ER membrane acetyl-CoA transporter, has been previously identified in individuals with hereditary spastic paraplegia type 42 (SPG42; MIM #612539. SLC33A1 has also been shown to inhibit the bone morphogenetic protein (BMP signaling pathway in zebrafish. To better understand the function of SLC33A1, we generated and characterized Slc33a1S113R knock-in mice. Homozygous Slc33a1S113R mutant mice were embryonic lethal, whereas heterozygous Slc33a1 mutant mice (Slc33a1wt/mut exhibited behavioral abnormalities and central neurodegeneration, which is consistent with hereditary spastic paraplegia (HSP phenotypes. Importantly, we found an upregulation of BMP signaling in the nervous system and mouse embryonic fibroblasts of Slc33a1wt/mut mice. Using a sciatic nerve crush injury model in vivo and dorsal root ganglion (DRG culture in vitro we showed that injury-induced axonal regeneration in Slc33a1wt/mut mice was accelerated and mediated by upregulated BMP signaling. Exogenous addition of BMP signaling antagonist, noggin, could efficiently alleviate the accelerated injury-induced axonal regrowth. These results indicate that SLC33A1 can negatively regulate BMP signaling in mice, further supporting the notion that upregulation of BMP signaling is a common mechanism of a subset of hereditary spastic paraplegias.

  17. Severe Spastic Contractures and Diabetes Mellitus Independently Predict Subsequent Minimal Trauma Fractures Among Long-Term Care Residents.

    Science.gov (United States)

    Lam, Kuen; Leung, Man Fuk; Kwan, Chi Wai; Kwan, Joseph

    2016-11-01

    The study aimed to examine the epidemiology of hypertonic contractures and its relationship with minimal trauma fracture (MTF), and to determine the incidence and predictors of (MTF) in long-term care residents. This was a longitudinal cohort study of prospectively collected data. Participants were followed from March 2007 to March 2016 or until death. A 300-bed long-term care hospital in Hong Kong. All long-term care residents who were in need of continuous medical and nursing care for their activities of daily living. Information on patients' demographic data, severe contracture defined as a decrease of 50% or more of the normal passive range of joint movement of the joint, and severe limb spasticity defined by the Modified Ashworth Scale higher than grade 3, medical comorbidities, functional status, cognitive status, nutritional status including body mass index and serum albumin, past history of fractures, were evaluated as potential risk factors for subsequent MTF. Three hundred ninety-six residents [148 males, mean ± standard deviation (SD), age = 79 ± 16 years] were included for analysis. The presence of severe contracture was highly prevalent among the study population: 91% of residents had at least 1 severe contracture, and 41% of residents had severe contractures involving all 4 limbs. Moreover, there were a significant proportion of residents who had severe limb spasticity with the elbow flexors (32.4%) and knee flexors (33.9%) being the most commonly involved muscles. Twelve residents (3%) suffered from subsequent MTF over a median follow-up of 33 (SD = 30) months. Seven out of these 12 residents died during the follow-up period, with a mean survival of 17.8 months (SD = 12.6) after the fracture event. The following 2 factors were found to independently predict subsequent MTF in a multivariate Cox regression: bilateral severe spastic knee contractures (hazard ratio = 16.5, P contractures are common morbidities in long-term care residents

  18. Interaction of HTLV-1 Tax protein with the calreticulin: Implications for Tax nuclear export and secretion

    OpenAIRE

    Alefantis, Timothy; Flaig, Katherine E.; Wigdahl, Brian; Jain, Pooja

    2007-01-01

    Human T cell leukemia virus type 1 (HTLV-1) is the etiologic agent of adult T cell leukemia (ATL) and HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). The HTLV-1 transcriptional transactivator protein Tax plays an integral role in virus replication and disease progression. Traditionally, Tax is described as a nuclear protein where it performs its primary role as a transcriptional transactivator. However, recent studies have clearly shown that Tax can also be localized to t...

  19. Proprioceptive neuromuscular facilitation in HTLV-I-associated myelopathy/tropical spastic paraparesis

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    Vera Lúcia Santos de Britto

    2014-01-01

    Full Text Available Introduction: Human T cell lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis (HAM/TSP can impact the independence and motricity of patients. The aims of this study were to estimate the effects of physiotherapy on the functionality of patients with HAM/TSP during the stable phase of the disease using proprioceptive neuromuscular facilitation (PNF and to compare two methods of treatment delivery. Methods: Fourteen patients with human T cell lymphotropic virus type I (HTLV-I were randomly allocated into two groups. In group I (seven patients, PNF was applied by the therapist, facilitating the functional activities of rolling, sitting and standing, walking and climbing and descending stairs. In group II (seven patients, PNF was self-administered using an elastic tube, and the same activities were facilitated. Experiments were conducted for 1h twice per week for 12 weeks. Low-back pain, a modified Ashworth scale, the functional independence measure (FIM and the timed up and go test (TUG were assessed before and after the interventions. Results: In the within-group evaluation, low-back pain was significantly reduced in both groups, the FIM improved in group II, and the results of the TUG improved in group I. In the inter-group analysis, only the tone was lower in group II than in group I. Conclusions: Both PNF protocols were effective in treating patients with HAM/TSP.

  20. Our Approach to the Spastic Hip Subluxation and Dislocation in Children with Cerebral Palsy

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    Pavel Šponer

    2006-01-01

    Full Text Available The purpose of this study was to evaluate the effectiveness of our approach to the spastic hip subluxation and dislocation in children with cerebral palsy. We evaluated 56 hips in our consecutive patients who had been operated on at our department between January 2003 and December 2005. There were done soft-tissue release procedures in 42 hips, osseous reconstructive surgery in 11 hips and osseous palliative surgery in 3 hips. The duration of follow-ups was 1–3 years after surgery. We achieved good result in 15 hips after soft-tissue release, fifteen hips had a fair result, nine a poor result and three a failure. No redislocation was observed after osseous surgery in our patients. Two patients observed no pain after osseous palliative surgery, transient pain in the hip was in one case. In all hips the range of motion (abduction was increased. The personal hygiene and possibilities of rehabilitation were improved. Childhood is the optimal time to intervene to maximize the function of the patient with cerebral palsy. The musculoskeletal treatment of the child prevents future problems with pain and deformity.

  1. MRI in spastic cerebral palsy - correlations with motor development and mental retardation

    International Nuclear Information System (INIS)

    Kulal, W.; Sobaniec, W.; Kubas, B.

    2004-01-01

    The introduction of magnetic resonance (MR) has improved our understanding of the pathophysiology and early diagnosis of cerebral palsy (CP). The aim of this study was to evaluate types of lesions on MR in children with CP in correlations with motor development, cognitive impairment and risk factors. Twenty-two children aged 4-17 years (boys 12, girls 10) with CP diplegia - 16 and tetraplegia - 6 were studied. Routine MR images were performed in all children. Results: All patients had periventricular leukomalacia (PVL) in MR findings. In addition three different degrees of MRI lesion patterns were defined: a mild pattern (nucleus lentiformis and thalamus) moderate (nucleus lentiformis, thalamus and pericentral region)and a severe pattern (nucleus lentiformis , thalamus, pericentral region and hippocampus). Significant correlations of the MR findings with the motor development and mental retardation were found. No significant relationships between the MR findings and the etiological factors (prematurity, low birthweight, Apgar score, sepsis, seizures, pre-eclamsia , and gestational age) were noted. MR imaging is useful in the evaluation structural abnormalities in the brains in the children with spastic diplegia and tetraplegia. (author)

  2. Possible etiologies for tropical spastic paraparesis and human T lymphotropic virus I-associated myelopathy

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    V. Zaninovic'

    2004-01-01

    Full Text Available The epidemiology of tropical spastic paraparesis/human T lymphotropic virus I (HTLV-I-associated myelopathy (TSP/HAM is frequently inconsistent and suggests environmental factors in the etiology of these syndromes. The neuropathology corresponds to a toxometabolic or autoimmune process and possibly not to a viral disease. Some logical hypotheses about the etiology and physiopathology of TSP and HAM are proposed. Glutamate-mediated excitotoxicity, central distal axonopathies, cassava, lathyrism and cycad toxicity may explain most cases of TSP. The damage caused to astrocytes and to the blood-brain barrier by HTLV-I plus xenobiotics may explain most cases of HAM. Analysis of the HTLV-I/xenobiotic ratio clarifies most of the paradoxical epidemiology of TSP and HAM. Modern neurotoxicology, neuroimmunology and molecular biology may explain the neuropathology of TSP and HAM. It is quite possible that there are other xenobiotics implicated in the etiology of some TSP/HAMs. The prevention of these syndromes appears to be possible today.

  3. Influence of dance therapy on the functional mobility of children with spastic hemiparetic cerebral palsy

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    D.C. Garção

    2011-01-01

    Full Text Available The aim of this study was to investigate the influence of dance therapy on the functional mobility of children with spastic hemiparetic cerebral palsy. Ten female children (mean age 7.2 ± 1.2 years diagnosed with cerebral palsy were included. In order to evaluate their functional mobility, standing (D and walking, running and jumping (E dimensions from GMFM were applied, and measurements were carried out in two phases: 1 control, six weeks without any motor intervention, and 2 activity, 18 sessions of dancing. Children were assessed three times: first, before the control phase, second, after the control phase, and third, at the end of the dancing phase. Kruskal-Wallis (p < .05 and Dunn tests (p < .05 were used. There were no changes in performance between the two first phases of evaluation (p = 1.00, however, at the end of the dancing phase a significant increase was measured in relation to D (p < .01 and E dimensions (p < .01. Results showed that dance therapy influences children's functional mobility.

  4. Influence of dance therapy on the functional mobility of children with spastic hemiparetic cerebral palsy

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    Diogo Costa Garção

    2011-09-01

    Full Text Available The aim of this study was to investigate the influence of dance therapy on the functional mobility of children with spastic hemiparetic cerebral palsy. Ten female children (mean age 7.2 ± 1.2 years diagnosed with cerebral palsy were included. In order to evaluate their functional mobility, standing (D and walking, running and jumping (E dimensions from GMFM were applied, and measurements were carried out in two phases: 1 control, six weeks without any motor intervention, and 2 activity, 18 sessions of dancing. Children were assessed three times: first, before the control phase, second, after the control phase, and third, at the end of the dancing phase. Kruskal-Wallis (p < .05 and Dunn tests (p < .05 were used. There were no changes in performance between the two first phases of evaluation (p = 1.00, however, at the end of the dancing phase a significant increase was measured in relation to D (p < .01 and E dimensions (p < .01. Results showed that dance therapy influences children's functional mobility.

  5. The assessment of spasticity: Pendulum test based smart phone movie of passive markers

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    Aleksić Antonina

    2018-01-01

    Full Text Available The pendulum test is the method for quantification of the level of spasticity in persons with spinal cord and brain injuries/diseases. The data for the assessment comes from the analysis of lower leg rotation in the sagittal plane while sitting caused by gravity. We built a simple instrument that uses the smart phone and passive markers for studying the pendulum movement of the leg. We compared the results of the new device with the results acquired with the conventional apparatus which uses a knee joint angle encoder and inertial sensors mounted on the upper and lower leg. The differences of parameters estimated from the test between the two systems are in the range of 5%, which is in the same range as the precision of the positioning of the pendulum apparatus on the leg. The new system is simple for the application (donning, doffing, setup time, accuracy, repeatability and allows a straightforward interpretation to a clinician. [Project of the Serbian Ministry of Education, Science and Technological Development, Grant no. TR 35003 and Grant no. III 44008

  6. Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.

    Science.gov (United States)

    Aldahmesh, Mohammed A; Mohamed, Jawahir Y; Alkuraya, Hisham S; Verma, Ishwar C; Puri, Ratna D; Alaiya, Ayodele A; Rizzo, William B; Alkuraya, Fowzan S

    2011-12-09

    Very-long-chain fatty acids (VLCFAs) play important roles in membrane structure and cellular signaling, and their contribution to human health is increasingly recognized. Fatty acid elongases catalyze the first and rate-limiting step in VLCFA synthesis. Heterozygous mutations in ELOVL4, the gene encoding one of the elongases, are known to cause macular degeneration in humans and retinal abnormalities in mice. However, biallelic ELOVL4 mutations have not been observed in humans, and murine models with homozygous mutations die within hours of birth as a result of a defective epidermal water barrier. Here, we report on two human individuals with recessive ELOVL4 mutations revealed by a combination of autozygome analysis and exome sequencing. These individuals exhibit clinical features of ichthyosis, seizures, mental retardation, and spasticity-a constellation that resembles Sjögren-Larsson syndrome (SLS) but presents a more severe neurologic phenotype. Our findings identify recessive mutations in ELOVL4 as the cause of a neuro-ichthyotic disease and emphasize the importance of VLCFA synthesis in brain and cutaneous development. Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  7. Interception of moving objects while walking in children with spastic hemiparetic cerebral palsy.

    Science.gov (United States)

    Ricken, Annieck X C; Savelsbergh, G J P; Bennett, S J

    2007-01-15

    The purpose of the study was to examine the coordination of reaching and walking behaviour when children with Spastic Hemiparetic Cerebral Palsy (SHCP) intercept an approaching and hence externally-timed object. Using either the impaired or non-impaired arm, children intercepted a ball approaching from a fixed distance with one of three velocities. Each participant's initial starting position was scaled to their maximum walking velocity determined prior to testing; for the medium ball velocity, participants would arrive at the point of interception at the correct time if they walked with their maximum velocity. Children with SHCP adapted their reaching and walking behaviour to the different ball approach velocities. These adaptations were exhibited when using the impaired and non-impaired arm, and resulted in similar outcome performance irrespective of which arm was used. Still, children with SHCP found it necessary to increase trunk movement to compensate for the decreased elbow excursion and a decreased peak velocity of the impaired arm. Children with SHCP exhibited specific adaptations to their altered movement capabilities when performing a behaviourally-realistic task. The provision of an external timing constraint appeared to facilitate both reaching and walking movements and hence could represent a useful technique in rehabilitation.

  8. The effect of hydrotherapy treatment on gait characteristics of hereditary spastic paraparesis patients.

    Science.gov (United States)

    Zhang, Yanxin; Roxburgh, Richard; Huang, Liang; Parsons, John; Davies, T Claire

    2014-04-01

    Hereditary spastic paraparesis (HSP) is a group of neurological disorders characterised by slowly progressive increasing muscle tone, predominantly in the lower limbs, with relatively preserved power. This leads to progressive difficulties in motor control and walking. The purpose of this study was to evaluate the effectiveness of hydrotherapy treatment when used as a means to increase locomotor function in individuals with late onset HSP. This paper discusses the analysis of the effect on gait characteristics. Nine people with HSP were asked to participate in pre- and post-hydrotherapy gait analyses. Ground reaction force and motion trajectories were recorded and used to calculate spatiotemporal gait parameters, joint angles and moments. The normalised joint kinematics and kinetics profile revealed that the biomechanics of people with HSP were similar to that of controls for most of the joints, but with lower range of motion. Walking speed increased significantly (11%) after the course of hydrotherapy. Though part of this was achieved through increased ROM there was also a further increase in hip internal rotation and in peak hip extension moment. Although participants had increased walking speed and step length, it appears that hydrotherapy increases the ability to perform compensatory strategies rather than resulting in a more typical kinematic and kinetic approach. Copyright © 2014 Elsevier B.V. All rights reserved.

  9. Reading of kana (phonetic symbols for syllables) in Japanese children with spastic diplegia and periventricular leukomalacia.

    Science.gov (United States)

    Yokochi, K

    2000-01-01

    In 31 Japanese children with spastic diplegia and periventricular leukomalacia (PVL), the age at which they could read Hiragana (phonetic symbols for syllables) and psychometric data were examined. Reading of Hiragana was achieved between 2 and 8 years of age in all subjects except one. Four children could read Hiragana at 2 to 3 years of age, an age which is considered early among Japanese children. Performance IQs of the Wechsler Scale were lower than Verbal IQs in 18 of 19 children who were administered this test, and DQs of the cognitive adaptive (C-A) area of the K-form developmental test (a popular test in Japan) were lower than those of the language social area in all 12 children taking this test. Among eight children having performance IQs or DQs of C-A less than 50, seven acquired reading ability of Hiragana at 8 years of age or below. A visuoperceptual disorder manifested by diplegic children with PVL does not affect the acquisition of Kana-reading ability.

  10. Voluntary ambulation using voluntary upper limb muscle activity and Hybrid Assistive Limb® (HAL®) in a patient with complete paraplegia due to chronic spinal cord injury: A case report.

    Science.gov (United States)

    Shimizu, Yukiyo; Kadone, Hideki; Kubota, Shigeki; Suzuki, Kenji; Saotome, Kousaku; Ueno, Tomoyuki; Abe, Tetsuya; Marushima, Aiki; Watanabe, Hiroki; Endo, Ayumu; Tsurumi, Kazue; Ishimoto, Ryu; Matsushita, Akira; Koda, Masao; Matsumura, Akira; Sankai, Yoshiyuki; Hada, Yasushi; Yamazaki, Masashi

    2018-01-19

    We sought to describe our experience with the Hybrid Assistive Limb® (HAL®) for active knee extension and voluntary ambulation with remaining muscle activity in a patient with complete paraplegia after spinal cord injury. A 30-year-old man with complete paraplegia used the HAL® for 1 month (10 sessions) using his remaining muscle activity, including hip flexor and upper limb activity. Electromyography was used to evaluate muscle activity of the gluteus maximus, tensor fascia lata, quadriceps femoris, and hamstring muscles in synchronization with the Vicon motion capture system. A HAL® session included a knee extension session with the hip flexor and voluntary gait with upper limb activity. After using the HAL® for one month, the patient's manual muscle hip flexor scores improved from 1/5 to 2/5 for the right and from 2/5 to 3/5 for the left knee, and from 0/5 to 1/5 for the extension of both knees. Knee extension sessions with HAL®, and hip flexor and upper-limb-triggered HAL® ambulation seem a safe and feasible option in a patient with complete paraplegia due to spinal cord injury.

  11. The effect of Hominis Placenta Pharmacopuncture on Leg spasticity of stroke patients (A Pilot study, Double blind, Randomized, Controlled Clinical Trial

    Directory of Open Access Journals (Sweden)

    Ju-hwan Noh

    2009-12-01

    Full Text Available Objective : The purpose of this study is to determine the effect of Hominis Placenta Pharmacopuncture(HPP on lower limb spasticity control in stroke patients. Methods : Twenty stroke patients with Leg spasticity were randomly divided into two groups, a Distilled water Pharmacopuncture(group I and a HPP(group II. The number of Pharmacopuncture was 5 times a week and acupuncture treatment was 3 times a week for 3 weeks. Modified Ashworth Scale(MAS, H-reflex/M-response ratio(H/M ratio, Berg Balance Scale(BBS and Time Up & Go(TUG were used for evaluation of spasticity control before experiment, after 1 week, 2 weeks, 3 weeks. Results : Group I showed significant improvement(p<.05 in BBS but no significant improvement in MAS, H/M ratio, and TUG. Group II showed significant improvement(p<.05 in MAS, BBS, and TUG, but no significant improvement in H/M ratio. The results showed significant difference in TUG, but no significant difference in MAS, H/M ratio and BBS between 2 groups. Conclusion : These results showed that HPP might decrease lower limb spasticity and increase leg motor function in stroke patients. Further studies will be required to examine more cases in the long period for the effect on lower limb in spasticity by HPP.

  12. [Efficacy on hemiplegic spasticity treated with plum blossom needle tapping therapy at the key points and Bobath therapy: a randomized controlled trial].

    Science.gov (United States)

    Wang, Fei; Zhang, Lijuan; Wang, Jianhua; Shi, Yan; Zheng, Liya

    2015-08-01

    To evaluate the efficacy on hemiplegic spasticity after cerebral infarction treated with plum blossom needle tapping therapy at the key points and Bobath therapy. Eighty patients were collected, in compliance with the inclusive criteria of hemiplegic spasticity after cerebral infarction, and randomized into an observation group and a control group, 40 cases in each one. In the control group, Bobath manipulation therapy was adopted to relieve spasticity and the treatment of 8 weeks was required. In the observation group, on the basis of the treatment as the control group, the tapping therapy with plum blossom needle was applied to the key points, named Jianyu (LI 15), Jianliao (LI 14), Jianzhen (SI 9), Hegu (LI 4), Chengfu (BL 36), Zusanli (ST 36), Xiyangguan (GB 33), etc. The treatment was given for 15 min each time, once a day. Before treatment, after 4 and 8 weeks of treatment, the Fugl-Meyer assessment (FMA) and Barthel index (BI) were adopted to evaluate the motor function of the extremity and the activity of daily life in the patients of the two groups separately. The modified Ashworth scale was used to evaluate the effect of anti-spasticity. In 4 and 8 weeks of treatment, FMA: scores and BI scores were all significantly increased as compared with those before treatment in the two groups: (both PBobath therapy effectively relieves hemiplegic spasticity in the patients of cerebral infarction and improves the motor function of extremity and the activity of daily life.

  13. Factors Influencing Goal Attainment in Patients with Post-Stroke Upper Limb Spasticity Following Treatment with Botulinum Toxin A in Real-Life Clinical Practice: Sub-Analyses from the Upper Limb International Spasticity (ULIS-II Study

    Directory of Open Access Journals (Sweden)

    Klemens Fheodoroff

    2015-04-01

    Full Text Available In this post-hoc analysis of the ULIS-II study, we investigated factors influencing person-centred goal setting and achievement following botulinum toxin-A (BoNT-A treatment in 456 adults with post-stroke upper limb spasticity (ULS. Patients with primary goals categorised as passive function had greater motor impairment (p < 0.001, contractures (soft tissue shortening [STS] (p = 0.006 and spasticity (p = 0.02 than those setting other goal types. Patients with goals categorised as active function had less motor impairment (0.0001, contracture (p < 0.0001, spasticity (p < 0.001 and shorter time since stroke (p = 0.001. Patients setting goals for pain were older (p = 0.01 with more contractures (p = 0.008. The proportion of patients achieving their primary goal was not impacted by timing of first-ever BoNT-A injection (medium-term (≤1 year vs. longer-term (>1 year post-stroke (80.0% vs. 79.2% or presence or absence of severe contractures (76.7% vs. 80.6%, although goal types differed. Earlier BoNT-A intervention was associated with greater achievement of active function goals. Severe contractures impacted negatively on goal achievement except in pain and passive function. Goal setting by patients with ULS is influenced by impairment severity, age and time since stroke. Our findings resonate with clinical experience and may assist patients and clinicians in selecting realistic, achievable goals for treatment.

  14. Passive muscle properties are altered in children with cerebral palsy before the age of 3 years and are difficult to distinguish clinically from spasticity

    DEFF Research Database (Denmark)

    Willerslev-Olsen, Maria; Lorentzen, Jakob; Sinkjær, Thomas

    2013-01-01

    AIM: Clinical determination of spasticity is confounded by the difficulty in distinguishing reflex from passive contributions to muscle stiffness. There is, therefore, a risk that children with cerebral palsy (CP) receive antispasticity treatment unnecessarily. To investigate this, we aimed...... to determine the contribution of reflex mechanisms to changes in the passive elastic properties of muscles and tendons in children with CP. METHOD: Biomechanical and electrophysiological measures were used to determine the relative contribution of reflex and passive mechanisms to ankle muscle stiffness in 35...... tetraplegia. According to the Gross Motor Function Classification System, 31 children were classified in level I, two in level II, and two in level III. RESULTS: Only seven children with spastic CP showed reflex stiffness outside the range of the control children. In contrast, 20 children with spastic CP...

  15. Functional influence of botulinum neurotoxin type A treatment (Xeomin® of multifocal upper and lower limb spasticity on chronic hemiparetic gait

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    Maurizio Falso

    2012-05-01

    Full Text Available This report describes the modification of hemiplegic shoulder pain and walking velocity through injections of Xeomin®, a new botulinum neurotoxin type A formulation, in a 67-year-old woman with chronic residual left hemiparesis and hemiparetic gait attributable to stroke. Clinical evaluation included upper and lower limb spasticity, upper and lower limb pain, trunk control, upper and lower limb motricity index, visual gait analysis, and gait velocity. Assessments were performed before, 1 week after, and 1 month after treatment. Improvement was observed in all clinical parameters assessed. Amelioration of spasticity of the upper and lower limbs and shoulder pain was observed after 1 month. Trunk postural attitude and paraxial muscle recruitment recovered. No adverse events were observed and the patient shows significant improvement of functional impairment derived from chronic spasticity after treatment with Xeomin®. We also provide a simple and useful protocol for clinical evaluation of the treatment.

  16. The usage of playing studies for development of spatial reasoning of 5-8-year-old children with spastic diplegi.

    Directory of Open Access Journals (Sweden)

    Shlapachenko O.A.

    2012-09-01

    Full Text Available In the article is shown the influence of rehabilitation-correction program with the usage of outdoor games on the level of influence of spatial thinking and constructive activity of 5-8-year-old children with spastic diplegi. 64 children took part in the experiment, all had main diagnosis - children cerebral paralysis, spastic diplegi. The experiment was conducted in a few phases during the year. It is proved that conducting of outdoor games promote positive influence on forming the level of influence of spatial thinking of children, increasing capacity of work. It is revealed that the level of development of spatial thinking of children with spastic diplegi depends on clinical display of an illness. It is mentioned that involving parents for participation in games with children promote rehabilitation of children in home conditions.

  17. Experience of using hippotherapy in complex effects on muscle spirals in children with spastic forms of cerebral palsy.

    Science.gov (United States)

    Strashko, Evhen Y; Kapustianska, Аnna A; Bobyreva, Lyudmyla E

    Matters of physical and medical rehabilitation of children with organic lesions of the nervous system, in particular, with cerebral palsy, are actual in countries around the world. Hippotherapy is neurophysiologically oriented therapy using horses. Determine whether a combination of hippotherapy as a method of rehabilitation in the aftermath of outpatient comprehensive impact on MS on a stationary phase; Study of the effect of hippotherapy as securing and preparation method for learning new postures and movements in children with spastic cerebral palsy forms; The study of the possible optimization of psychophysical state, activation motivations of patients; Determination of the optimal timing of hippotherapy sessions, the number of procedures, the study of possible fatigue factor children. HT classes were conducted at the Ippotsentra "Wind of Change" in the period 2010-2013 the main group of children surveyed (36 people) with spastic forms of cerebral palsy. HT procedure took place twice a day - morning and evening - 30 minutes during 10-12 days. Thus, the proposed integration of the HT program of complex effects on muscle spirals children with spastic cerebral palsy forms is physiologically and anthropologically based on 4-5 day training children adequately transferred the full amount of lessons learned new postures and movements, HT does not cause complications in the somatic and psycho-emotional state of the children, HT enables sensorimotor and psychomotor effects, save and normalize muscle tone for a longer period (up to three months), compared with traditional methods of physiotherapy. HT can serve as a method of learning a new "postures and movements", the preparation of the locomotor apparatus to learn walking.

  18. "An Investigation Into The Interrater Reliability Of The Modified Ashworth Scale In The Assessment Of Muscle Spasticity In Hemiplegic Patients "

    Directory of Open Access Journals (Sweden)

    N. Nokhostin-Ansari

    2006-06-01

    Full Text Available Background and Aim: Spasticity is a velocity-dependent increase in tonic stretch reflexes (muscle tone with exaggerated tendon jerks, resulting from hyperexcitability of the stretch reflex. The measurement of spasticity is necessary to determine the effect of treatments. The Modified Ashworth Scale is the most widely used method for assessing muscle spasticity in clinical practice and research. The purpose of this study was to investigate the interrater reliability of Modified Ashworth Scale in hemiplegic patients. Materials and Methods: Thirty subjects (16 males, 14 females with a mean age of 59.40 (SD =14.013 recruited. Shoulder adductor , elbow flexor , wrist dorsiflexor , hip adductor , knee extensor and ankle plantarflexor on the hemiplegic side were tested by two physiotherapists. Results: In the upper limb, the interrater reliability for shoulder adductor and elbow flexor muscles was fair (0.372 and 0.369, respectively. The reliability for the wrist flexors was good (0.612. The difference in Kappa value for the proximal muscle (shoulder adductor; 0.372 and the distal muscle (wrist flexor; 0.612 was significant (²X=33.87, df=1, p0.05. The mean value for the upper limb (0.505 and the lower limb (0,.516 was not significantly different (²X=0.1407, df=1, p>0.05. Conclusion: The interrater reliability of Modified Ashworth Scale was not good . The limb, upper or lower, had no significant effect on the reliability. In the upper limb, the reliability for the proximal and distal muscle was significantly different. However. The difference in the lower limb was not significant.When using the scale, one should consider it's limitation.

  19. Phase changes caused by hyperventilation stress in spastic angina pectoris analyzed by first-pass radionuclide ventriculography

    Energy Technology Data Exchange (ETDEWEB)

    Wu, Jin; Takeda, Tohoru; Ajisaka, Ryuichi; Masuoka, Takeshi; Watanabe, Sigeyuki; Sato, Motohiro; Itai, Yuji [Tsukuba Univ., Ibaraki (Japan). Inst. of Clinical Medicine; Toyama, Hinako; Ishikawa, Nobuyoshi

    1999-02-01

    To understand the effect of hyperventilation (HV) stress in patients with spastic angina, left ventricular (LV) contraction was analyzed by quantitative phase analysis. The study was performed on 36 patients with spastic angina pectoris, including vasospastic angina pectoris (VspAP: 16 patients) and variant angina pectoris (VAP: 20 patients). First-pass radionuclide ventriculography (first-pass RNV) was performed at rest and after HV stress, and standard deviation of the LV phase distribution (SD) was analyzed. The SD was lower in patients with VspAP than in VAP(12.8{+-}1.4 degrees vs. 14.6{+-}2.2 degrees, p<0.005) at rest. After HV stress, the SD (HVSD) tended to increase in VspAP patients (62.5%), whereas the SD decreased in VAP patients (70%). Due to HV stress, the percentage change in SD (%SD) in VspAP patients was 8.9{+-}23.7% whereas that in VAP patients was -9.1{+-}17.3% (p<0.01). Moreover, phase histograms were divided into HVSD increase and HVSD decrease groups. The HVSD increase group had a decrease of HVEF, but the HVSD decrease group tended to have more decreased HVEF than the HVSD increase group. These results indicate that spastic angina pectoris patients show various responses to HV stress. The HVSD increase group might have additional myocardial ischemia due to regional coronary spasm. In contrast, in the HVSD decrease group severe LV dysfunction or diffuse wall motion abnormality might have been generated, and this caused a reduction in the SD value. Phase analysis would therefore add new information regarding electrocardiographically silent myocardial ischemia due to coronary spasm, and HV stress might increase sensitivity for the detection of abnormalities in quantitative phase analysis, especially in VspAP patients. (author)

  20. Effects of gabapentin on muscle spasticity and both induced as well as spontaneous autonomic dysreflexia after complete spinal cord injury

    Directory of Open Access Journals (Sweden)

    Alexander G. Rabchevsky

    2012-08-01

    Full Text Available We recently reported that the neuropathic pain medication, gabapentin (GBP; Neurontin, significantly attenuated both noxious colorectal distension (CRD-induced autonomic dysreflexia (AD and tail pinch-induced spasticity compared to saline-treated cohorts 2-3 weeks after complete high thoracic (T4 spinal cord injury (SCI. Here we employed long-term blood pressure telemetry to test, firstly, the efficacy of daily versus acute GBP treatment in modulating AD and tail spasticity in response to noxious stimuli at 2 and 3 weeks post-injury. Secondly, we determined whether daily GBP alters baseline cardiovascular parameters, as well as spontaneous AD events detected using a novel algorithm based on blood pressure telemetry data. At both 14 and 21 days after SCI, irrespective of daily treatment, acute GBP given 1 hr prior to stimulus significantly attenuated CRD-induced AD and pinch-evoked tail spasticity; conversely, acute saline had no such effects. Moreover, daily GBP did not alter 24 hr mean arterial pressure (MAP or heart rate values compared to saline treatment, nor did it reduce the incidence of spontaneous AD events compared to saline over the three week assessment period. Power spectral density analysis of the MAP signals demonstrated relative power losses in mid frequency ranges (0.2-0.8 Hz for all injured animals relative to low frequency MAP power (0.02-0.08 Hz. However, there was no significant difference between groups over time post-injury; hence, GBP had no effect on the persistent loss of MAP fluctuations in the mid frequency range after injury. In summary, the mechanism(s by which acute GBP treatment mitigate aberrant somatosensory and cardiophysiological responses to noxious stimuli after SCI remain unclear. Nevertheless, with further refinements in defining the dynamics associated with AD events, such as eliminating requisite concomitant bradycardia, the objective repeatability of automatic detection of hypertensive crises provides a

  1. Feasibility of a shorter Goal Attainment Scaling method for a pediatric spasticity clinic - The 3-milestones GAS.

    Science.gov (United States)

    Krasny-Pacini, A; Pauly, F; Hiebel, J; Godon, S; Isner-Horobeti, M-E; Chevignard, M

    2017-07-01

    Goal Attainment Scaling (GAS) is a method for writing personalized evaluation scales to quantify progress toward defined goals. It is useful in rehabilitation but is hampered by the experience required to adequately "predict" the possible outcomes relating to a particular goal before treatment and the time needed to describe all 5 levels of the scale. Here we aimed to investigate the feasibility of using GAS in a clinical setting of a pediatric spasticity clinic with a shorter method, the "3-milestones" GAS (goal setting with 3 levels and goal rating with the classical 5 levels). Secondary aims were to (1) analyze the types of goals children's therapists set for botulinum toxin treatment and (2) compare the score distribution (and therefore the ability to predict outcome) by goal type. Therapists were trained in GAS writing and prepared GAS scales in the regional spasticity-management clinic they attended with their patients and families. The study included all GAS scales written during a 2-year period. GAS score distribution across the 5 GAS levels was examined to assess whether the therapist could reliably predict outcome and whether the 3-milestones GAS yielded similar distributions as the original GAS method. In total, 541 GAS scales were written and showed the expected score distribution. Most scales (55%) referred to movement quality goals and fewer (29%) to family goals and activity domains. The 3-milestones GAS method was feasible within the time constraints of the spasticity clinic and could be used by local therapists in cooperation with the hospital team. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  2. Phase changes caused by hyperventilation stress in spastic angina pectoris analyzed by first-pass radionuclide ventriculography

    International Nuclear Information System (INIS)

    Wu, Jin; Takeda, Tohoru; Ajisaka, Ryuichi; Masuoka, Takeshi; Watanabe, Sigeyuki; Sato, Motohiro; Itai, Yuji; Toyama, Hinako; Ishikawa, Nobuyoshi

    1999-01-01

    To understand the effect of hyperventilation (HV) stress in patients with spastic angina, left ventricular (LV) contraction was analyzed by quantitative phase analysis. The study was performed on 36 patients with spastic angina pectoris, including vasospastic angina pectoris (VspAP: 16 patients) and variant angina pectoris (VAP: 20 patients). First-pass radionuclide ventriculography (first-pass RNV) was performed at rest and after HV stress, and standard deviation of the LV phase distribution (SD) was analyzed. The SD was lower in patients with VspAP than in VAP(12.8±1.4 degrees vs. 14.6±2.2 degrees, p<0.005) at rest. After HV stress, the SD (HVSD) tended to increase in VspAP patients (62.5%), whereas the SD decreased in VAP patients (70%). Due to HV stress, the percentage change in SD (%SD) in VspAP patients was 8.9±23.7% whereas that in VAP patients was -9.1±17.3% (p<0.01). Moreover, phase histograms were divided into HVSD increase and HVSD decrease groups. The HVSD increase group had a decrease of HVEF, but the HVSD decrease group tended to have more decreased HVEF than the HVSD increase group. These results indicate that spastic angina pectoris patients show various responses to HV stress. The HVSD increase group might have additional myocardial ischemia due to regional coronary spasm. In contrast, in the HVSD decrease group severe LV dysfunction or diffuse wall motion abnormality might have been generated, and this caused a reduction in the SD value. Phase analysis would therefore add new information regarding electrocardiographically silent myocardial ischemia due to coronary spasm, and HV stress might increase sensitivity for the detection of abnormalities in quantitative phase analysis, especially in VspAP patients. (author)

  3. Botulinum toxin injection for hypercontractile or spastic esophageal motility disorders: may high-resolution manometry help to select cases?

    Science.gov (United States)

    Marjoux, S; Brochard, C; Roman, S; Gincul, R; Pagenault, M; Ponchon, T; Ropert, A; Mion, F

    2015-01-01

    Endoscopic injections of botulinum toxin in the cardia or distal esophagus have been advocated to treat achalasia and spastic esophageal motility disorders. We conducted a retrospective study to evaluate whether manometric diagnosis using the Chicago classification in high-resolution manometry (HRM) would be predictive of the clinical response. Charts of patients with spastic and hypertensive motility disorders diagnosed with HRM and treated with botulinum toxin were retrospectively reviewed at two centers. HRM recordings were systematically reanalyzed, and a patient's phone survey was conducted. Forty-five patients treated between 2008 and 2013 were included. Most patients had achalasia type 3 (22 cases). Other diagnoses were jackhammer esophagus (8 cases), distal esophageal spasm (7 cases), esophagogastric junction outflow obstruction (5 cases), nutcracker esophagus (1 case), and 2 unclassified cases. Botulinum toxin injections were performed into the cardia only in 9 cases, into the wall of the distal esophagus in 19 cases, and in both locations (cardia and distal esophagus) in 17 cases. No complication occurred in 31 cases. Chest pain was noticed for less than 7 days in 13 cases. One death related to mediastinitis occurred 3 weeks after botulinum toxin injection. Efficacy was assessed in 42 patients: 71% were significantly improved 2 months after botulinum toxin, and 57% remained satisfied for more than 6 months. No clear difference was observed in terms of response according to manometric diagnosis; however, type 3 achalasia previously dilated and with normal integrated relaxation pressure (4s-integrated relaxation pressure botulinum toxin. Endoscopic injections of botulinum toxin may be effective in some patients with spastic or hypercontractile esophageal motility disorders. The manometric Chicago classification diagnosis does not seem to predict the results. Prospective randomized trials are required to identify patients most likely to benefit from

  4. Plastic changes in spinal synaptic transmission following botulinum toxin A in patients with post-stroke spasticity.

    Science.gov (United States)

    Kerzoncuf, Marjorie; Bensoussan, Laurent; Delarque, Alain; Durand, Jacques; Viton, Jean-Michel; Rossi-Durand, Christiane

    2015-11-01

    The therapeutic effects of intramuscular injections of botulinum toxin-type A on spasticity can largely be explained by its blocking action at the neuromuscular junction. Botulinum toxin-type A is also thought to have a central action on the functional organization of the central nervous system. This study assessed the action of botulinum toxin-type A on spinal motor networks by investigating post-activation depression of the soleus H-reflex in post-stroke patients. Post-activation depression, a presynaptic mechanism controlling the synaptic efficacy of Ia-motoneuron transmission, is involved in the pathophysiology of spasticity. Eight patients with chronic hemiplegia post-stroke presenting with lower limb spasticity and requiring botulinum toxin-type A injection in the ankle extensor muscle. Post-activation depression of soleus H-reflex assessed as frequency-related depression of H-reflex was investigated before and 3, 6 and 12 weeks after botulinum toxin-type A injections in the triceps surae. Post-activation depression was quantified as the ratio between H-reflex amplitude at 0.5 and 0.1 Hz. Post-activation depression of soleus H-reflex, which is reduced on the paretic leg, was affected 3 weeks after botulinum toxin-type A injection. Depending on the residual motor capacity of the post-stroke patients, post-activation depression was either restored in patients with preserved voluntary motor control or further reduced in patients with no residual voluntary control. Botulinum toxin treatment induces synaptic plasticity at the Ia-motoneuron synapse in post-stroke paretic patients, which suggests that the effectiveness of botulinum toxin-type A in post-stroke rehabilitation might be partly due to its central effects.

  5. Analysis of spastic gait in cervical myelopathy: Linking compression ratio to spatiotemporal and pedobarographic parameters.

    Science.gov (United States)

    Nagai, Taro; Takahashi, Yasuhito; Endo, Kenji; Ikegami, Ryo; Ueno, Ryuichi; Yamamoto, Kengo

    2018-01-01

    Gait dysfunction associated with spasticity and hyperreflexia is a primary symptom in patients with compression of cervical spinal cord. The objective of this study was to link maximum compression ratio (CR) to spatiotemporal/pedobarographic parameters. Quantitative gait analysis was performed by using a pedobarograph in 75 elderly males with a wide range of cervical compression severity. CR values were characterized on T1-weighted magnetic resonance imaging (MRI). Statistical significances in gait analysis parameters (speed, cadence, stride length, step with, and toe-out angle) were evaluated among different CR groups by the non-parametric Kruskal-Wallis test followed by the Mann-Whitney U test using Bonferroni correction. The Spearman test was performed to verify correlations between CR and gait parameters. The Kruskal-Wallis test revealed significant decline in gait speed and stride length and significant increase in toe-out angle with progression of cervical compression myelopathy. The post-hoc Mann-Whitney U test showed significant differences in these parameters between the control group (0.45test revealed that CR was significantly correlated with speed, cadence, stride length, and toe-out angle. Gait speed, stride length, and toe-out angle can serve as useful indexes for evaluating progressive gait abnormality in cervical myelopathy. Our findings suggest that CR≤0.25 is associated with significantly poorer gait performance. Nevertheless, future prospective studies are needed to determine a potential benefit from decompressive surgery in such severe compression patients. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. Cortical somatosensory reorganization in children with spastic cerebral palsy: a multimodal neuroimaging study

    Directory of Open Access Journals (Sweden)

    CHRISTOS ePAPADELIS

    2014-09-01

    Full Text Available Although cerebral palsy (CP is among the most common causes of physical disability in early childhood, we know little about the functional and structural changes of this disorder in the developing brain. Here, we investigated with three different neuroimaging modalities (magnetoencephalography (MEG, diffusion tension imaging (DTI, and resting state fMRI whether spastic CP is associated with functional and anatomical abnormalities in the sensorimotor network. Ten children participated in the study: four with diplegic CP (DCP, three with hemiplegic CP (HCP, and three typically-developing (TD children. Somatosensory evoked fields (SEFs were recorded in response to pneumatic stimuli applied to digits D1, D3, and D5 of both hands. Several parameters of water diffusion were calculated from DTI between the thalamus and the precentral and postcentral gyri in both hemispheres. The sensorimotor resting state networks (RSNs were examined by using an independent component analysis method. Tactile stimulation of the fingers elicited the first prominent cortical response at ~50 ms, in all except one child, localized over the primary somatosensory cortex (S1. In five CP children, abnormal somatotopic organization was observed in the affected (or more affected hemisphere. Euclidean distances were markedly different between the two hemispheres in the HCP children, and between DCP and TD children for both hemispheres. DTI analysis revealed decreased fractional anisotropy and increased apparent diffusion coefficient for the thalamocortical pathways in the more affected compared to less affected hemisphere in CP children. Rs-fMRI results indicated absent and/or abnormal sensorimotor RSNs for children with HCP and DCP consistent with the severity and location of their lesions. Our findings suggest an abnormal somatosensory processing mechanism in the sensorimotor network of children with CP possibly as a result of diminished thalamocortical projections.

  7. Analysis of structure-function network decoupling in the brain systems of spastic diplegic cerebral palsy.

    Science.gov (United States)

    Lee, Dongha; Pae, Chongwon; Lee, Jong Doo; Park, Eun Sook; Cho, Sung-Rae; Um, Min-Hee; Lee, Seung-Koo; Oh, Maeng-Keun; Park, Hae-Jeong

    2017-10-01

    Manifestation of the functionalities from the structural brain network is becoming increasingly important to understand a brain disease. With the aim of investigating the differential structure-function couplings according to network systems, we investigated the structural and functional brain networks of patients with spastic diplegic cerebral palsy with periventricular leukomalacia compared to healthy controls. The structural and functional networks of the whole brain and motor system, constructed using deterministic and probabilistic tractography of diffusion tensor magnetic resonance images and Pearson and partial correlation analyses of resting-state functional magnetic resonance images, showed differential embedding of functional networks in the structural networks in patients. In the whole-brain network of patients, significantly reduced global network efficiency compared to healthy controls were found in the structural networks but not in the functional networks, resulting in reduced structural-functional coupling. On the contrary, the motor network of patients had a significantly lower functional network efficiency over the intact structural network and a lower structure-function coupling than the control group. This reduced coupling but reverse directionality in the whole-brain and motor networks of patients was prominent particularly between the probabilistic structural and partial correlation-based functional networks. Intact (or less deficient) functional network over impaired structural networks of the whole brain and highly impaired functional network topology over the intact structural motor network might subserve relatively preserved cognitions and impaired motor functions in cerebral palsy. This study suggests that the structure-function relationship, evaluated specifically using sparse functional connectivity, may reveal important clues to functional reorganization in cerebral palsy. Hum Brain Mapp 38:5292-5306, 2017. © 2017 Wiley Periodicals

  8. Flexor origin slide for contracture of spastic finger flexor muscles: a retrospective study.

    Science.gov (United States)

    Thevenin-Lemoine, Camille; Denormandie, Philippe; Schnitzler, Alexis; Lautridou, Christine; Allieu, Yves; Genêt, François

    2013-03-06

    Contracture of the wrist and extrinsic finger flexor and pronator muscles is a common consequence of central nervous system disorders. The proximal release of the extrinsic flexor and pronator muscles was first described by Page and Scaglietti for a Volkmann contracture. The aim of the present study was to assess the amount of increase in extension and the improvements in global hand function that can be expected following this lengthening procedure in patients with central nervous system disorders. A single-center retrospective review of patients with central nervous system lesions and contractures of the wrist and extrinsic finger flexor and forearm pronator muscles, causing aesthetic, hygienic, or functional impairment, was carried out. The Page-Scaglietti technique was used for all interventions. Before the operation, motor nerve blocks were used to distinguish between spasticity and contractures with surgical intervention only for contractures. The Zancolli and House classifications were used to evaluate improvements. Data from fifty-four hands and fifty patients (thirty-five men and fifteen women) were evaluated. The mean duration of follow-up (and standard deviation) was 26 ± 21 months (range, three to 124 months). The mean gain (and standard deviation) in wrist extension with fingers extended was 67° ± 25° (range, -10° to 110°). Preoperatively, no hands were classified as Zancolli Group 1, whereas twenty-five hands were classified as Zancolli Group 1 at the latest follow-up review. Ten nonfunctional hands (rated as House Group 0 or Group 1) became functional as a supporting hand postoperatively. Zancolli and House classifications increased significantly (p contracture of the intrinsic muscles, which required further intervention. The Page-Scaglietti technique appears to improve range of motion and function in people with wrist and finger contractures due to central nervous system disorders.

  9. How multi segmental patterns deviate in spastic diplegia from typical developed.

    Science.gov (United States)

    Zago, Matteo; Sforza, Chiarella; Bona, Alessia; Cimolin, Veronica; Costici, Pier Francesco; Condoluci, Claudia; Galli, Manuela

    2017-10-01

    The relationship between gait features and coordination in children with Cerebral Palsy is not sufficiently analyzed yet. Principal Component Analysis can help in understanding motion patterns decomposing movement into its fundamental components (Principal Movements). This study aims at quantitatively characterizing the functional connections between multi-joint gait patterns in Cerebral Palsy. 65 children with spastic diplegia aged 10.6 (SD 3.7) years participated in standardized gait analysis trials; 31 typically developing adolescents aged 13.6 (4.4) years were also tested. To determine if posture affects gait patterns, patients were split into Crouch and knee Hyperextension group according to knee flexion angle at standing. 3D coordinates of hips, knees, ankles, metatarsal joints, pelvis and shoulders were submitted to Principal Component Analysis. Four Principal Movements accounted for 99% of global variance; components 1-3 explained major sagittal patterns, components 4-5 referred to movements on frontal plane and component 6 to additional movement refinements. Dimensionality was higher in patients than in controls (p<0.01), and the Crouch group significantly differed from controls in the application of components 1 and 4-6 (p<0.05), while the knee Hyperextension group in components 1-2 and 5 (p<0.05). Compensatory strategies of children with Cerebral Palsy (interactions between main and secondary movement patterns), were objectively determined. Principal Movements can reduce the effort in interpreting gait reports, providing an immediate and quantitative picture of the connections between movement components. Copyright © 2017 Elsevier Ltd. All rights reserved.

  10. Budget impact analysis of botulinum toxin A therapy for upper limb spasticity in the United Kingdom

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    Abogunrin S

    2015-04-01

    Full Text Available Seye Abogunrin,1 Linda Hortobagyi,2 Edit Remak,3 Jerome Dinet,4 Sylvie Gabriel,5 Abdel Magid O Bakheit6 1Meta Research, 2Health Economics, Evidera, London, UK; 3Health Economics, Evidera, Budapest, Hungary; 4Health Economics and Outcomes Research (Global, 5Global Market Access and Pricing, Ipsen Pharma, Boulogne-Billancourt, France; 6Neurological Rehabilitation, Moseley Hall Hospital, Birmingham, UK Background: Botulinum toxin A (BoNT-A is an effective treatment for patients with upper limb spasticity (ULS, which is a debilitating feature of upper motor neuron lesions. BoNT-A preparations available in the UK are associated with different costs. Methods: We developed a budget impact model to assess the effect of changing market shares of different BoNT-A formulations – abobotulinumtoxinA, onabotulinumtoxinA, and incobotulinumtoxinA – and best supportive care, from the UK payer perspective, over a 5-year time horizon. Epidemiological and resource use data were derived from published literature and clinical expert opinion. One-way sensitivity analyses were performed to determine parameters most influential on budget impact. Results: Base-case assumptions showed that an increased uptake of abobotulinumtoxinA resulted in a 5-year savings of £6,283,829. Treatment with BoNT-A costs less than best supportive care per patient per year, although treating a patient with onabotulinumtoxinA (£20,861 and incobotulinumtoxinA (£20,717 cost more per patient annually than with abobotulinumtoxinA (£19,800. Sensitivity analyses showed that the most influential parameters on budget were percentage of cerebral palsy and stroke patients developing ULS, and the prevalence of stroke. Conclusion: Study findings suggest that increased use of abobotulinumtoxinA for ULS in the UK could potentially reduce total ULS cost for the health system and society. Keywords: stroke, cerebral palsy, multiple sclerosis, traumatic brain injury 

  11. COMPARISON BETWEEN PHYSIOLOGICAL COST INDEX IN HEALTHY NORMAL CHILDREN AS AGAINST AMBULATORY SPASTIC DIPLEGIC CEREBRAL PALSY (WITH AND WITHOUT ORTHOSIS IN THE AGE GROUP 6 TO 18 YEARS

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    Swatia Bhise

    2016-08-01

    Full Text Available Background: Efficacy of rehabilitation program for subjects with orthosis with objective measurement. The study aiming to objectively compare the PCI and walking speed of normal children with ambulatory spastic diaplegic. Also we aimed to analyze whether BMIhad impact on energy cost. Methods: 41 normal children and 41 community walking spastic diaplegic aged between 6 to 18 yrs. were assessed to compare the PCI. Speed of walking and heart rate were checked constantlyboth barefoot and in shoes in normal children and with and without conventional AFO in children with spastic diaplegic at their chosen velocities over four consecutive lengths of a 12.5m walkway i.e. total 50m.,Pre and Post readings are taken. Heart rate is affected by speed; PCI with speed of walking and heart rate was calculated for each child. Results: The mean PCI in shoes and barefoot was same in normal children i.e. 0.05 ±0.039beats/meter. The PCI for children with pathological gait i.e. spastic diaplegic without orthosis and with orthosis is 0.199 ±0.176 and 0.104± 0.093beats/meter appreciably greater than that for normal children(p less than 0.05. Conclusion: This study showed that walking with orthosis in spastic diplegic CP children showed higher costs of energy and slower walking speed compared normal children with age matched. The PCI of walking, with orthosis in children with spastic Diplegic cerebral palsy is less as compared to without orthosis i.e. gait is more energy efficient with orthosis. BMI doesn’t show any correlation with PCI further study may require.

  12. Estimation of motive possibilities and manipulative activity of children with cerebral paralysis of spastic form 3-5 years

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    Baybuza I.V.

    2012-03-01

    Full Text Available In this work the conducted estimation of motive possibilities and manipulative activity of children is with the cerebral paralysis of spastic form 3-5 years accordingly standard norms. The experiment was attended by 30 children. Proven lack of fine motor skills and basic static and motor skills decreased muscle strength and improve muscle tone. Providing a more objective assessment of physical development of patients with this pathology would contribute a program hydrokinesotherapy as a means of gradual formation of motor skills.

  13. Evidence of preferential female prevalence of HTLV-I associated tropical spastic paraparesis in Bahia-Brazil

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    O. A. Moreno-Carvalho

    1992-06-01

    Full Text Available In order to evaluate the prevalence of HTLV-I infection and its association with tropical spastic paraparesis (TSP in Bahia, a Northeastern State of Brazil, CSF and sera from TSP patients and CSF and/or sera from some selected groups of individuals were studied. The results seem to indicate a higher prevalence of HTLV-I infection in women than men with TSP and among individuals of HIV risk groups. Some alterations of routine analysis of CSF can suggest HTLV-I infection in TSP patients.

  14. Role of IL-21 in HTLV-1 infections with emphasis on HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP).

    Science.gov (United States)

    Rajaei, Taraneh; Farajifard, Hamid; Rafatpanah, Houshang; Bustani, Reza; Valizadeh, Narges; Rajaei, Bahareh; Rezaee, Seyed Abdolrahim

    2017-06-01

    Interleukin-21 (IL-21) enhances the survival and cytotoxic properties of cytotoxic T cells (CTLs) and exhibits essential roles in controlling chronic viral infections. HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a chronic progressive inflammatory disease of the nervous system. The main determinant of disease progression is efficiency of the CTL response to Human T lymphotropic virus types I (HTLV-1). In this study, the expression of host IL-21 and HTLV-I Tax and proviral load (PVL) was evaluated to understand the role and mechanism of IL-21 in HTLV-1 infections and the subsequent development of HAM/TSP. A cross-sectional study was carried out on 20 HAM/TSP patients, 20 asymptomatic HTLV-1 carriers (ACs) and 20 healthy controls (HCs) to evaluate the expression of IL-21 and Tax and PVL in non-activated and phorbol myristate acetate (PMA)-ionomycin-activated peripheral blood mononuclear cells (PBMCs). The mean mRNA expression of IL-21 in the non-activated and activated PBMCs was higher (by 5-13 times) in the HAM/TSP patients than in ACs and HCs (p Tax and PVL was observed in the HAM/TSP subjects than ACs (p Tax gene expression was positively correlated with PVL (R = 0.595, p = 0.000) and IL-21 gene expression (R = 0.395, p = 0.021) in the HTLV-1-infected subjects. In conclusion, the increase in IL-21 mRNA expression may reflect the attempt of infected T cells to induce an appropriate antiviral response, and the decrease in IL-21 protein expression may reflect the inhibition of IL-21 mRNA translation by viral factors in favour of virus evasion and dissemination.

  15. Cost analysis of glatiramer acetate versus interferon-β for relapsing-remitting multiple sclerosis in patients with spasticity: the Escala study.

    Science.gov (United States)

    Sánchez-de la Rosa, Rainel; García-Bujalance, Laura; Meca-Lallana, José

    2015-12-01

    The Escala Study evidenced that the administration of glatiramer acetate for relapsing-remitting multiple sclerosis improved the spasticity of patients previously treated with interferon-β. However, whether such an improvement was translated into cost savings remained unclear. We therefore conducted a cost analysis of glatiramer acetate versus interferon-β in these patients with multiple sclerosis and spasticity. This cost analysis encompassed data from the observational Escala Study, which included patients with relapsing-remitting multiple sclerosis and spasticity whose treatment had been switched from interferon-β to glatiramer acetate. Costs prior to starting glatiramer acetate (interferon-β period) were compared to the subsequent six months on glatiramer acetate (glatiramer acetate period). The analysis was carried out following the recommendations for conducting pharmacoeconomic studies and from the Spanish National Health System perspective. Costs associated with multiple sclerosis treatment, spasticity treatment and relapse management were expressed in 2014 euros (€); a 7.5 % discount was applied-when needed-as stipulated in Spanish law. The management of relapsing-remitting multiple sclerosis, spasticity and relapses accounted for a 6-month cost per patient of 7,078.02€ when using interferon-β and 4,671.31€ when using glatiramer acetate. Switching from interferon-β to glatiramer acetate therefore represented a cost saving of 2,406.72€ per patient in favour of glatiramer acetate, which resulted from savings in treatment costs, relapse management and spasticity treatment of 1,890.02€, 430.48€ and 86.21€, respectively. The ratio of the costs during interferon-β was 1.5 times the costs during glatiramer acetate; thus, a fixed budget of 5,000,000€ would enable 1,070 patients to be treated with glatiramer acetate and only 706 patients with interferon-β. The treatment of relapsing-remitting multiple sclerosis with glatiramer acetate

  16. The temporal profile of the reaction of microglia, astrocytes, and macrophages in the delayed onset paraplegia after transient spinal cord ischemia in rabbits.

    Science.gov (United States)

    Matsumoto, Satoshi; Matsumoto, Mishiya; Yamashita, Atsuo; Ohtake, Kazunobu; Ishida, Kazuyoshi; Morimoto, Yasuhiro; Sakabe, Takefumi

    2003-06-01

    In the present study, we sought to elucidate the temporal profile of the reaction of microglia, astrocytes, and macrophages in the progression of delayed onset motor dysfunction after spinal cord ischemia (15 min) in rabbits. At 2, 4, 8, 12, 24, and 48 h after reperfusion (9 animals in each), hind limb motor function was assessed, and the lumbar spinal cord was histologically examined. Delayed motor dysfunction was observed in most animals at 48 h after ischemia, which could be predicted by a poor recovery of segmental spinal cord evoked potentials at 15 min of reperfusion. In the gray matter of the lumbar spinal cord, both microglia and astrocytes were activated early (2 h) after reperfusion. Microglia were diffusely activated and engulfed motor neurons irrespective of the recovery of segmental spinal cord evoked potentials. In contrast, early astrocytic activation was confined to the area where neurons started to show degeneration. Macrophages were first detected at 8 h after reperfusion and mainly surrounded the infarction area later. Although the precise roles of the activation of microglia, astrocytes, and macrophages are to be further determined, the results indicate that understanding functional changes of astrocytes may be important in the mechanism of delayed onset motor dysfunction including paraplegia. Microglia and macrophages play a role in removing tissue debris after transient spinal cord ischemia. Disturbance of astrocytic defense mechanism, breakdown of the blood-spinal cord barrier, or both seemed to be involved in the development of delayed motor dysfunction.

  17. The Role of Exercise – Rehabilitation on Energy Cost and Metabolic Efficiency in Dipelegic Spastic Cerebral Palsy Children

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    M. Izadi

    2005-07-01

    Full Text Available Introduction & Objective: The aim of this study was to compare the resting energy expenditure and metabolic efficiency before and after of aerobic exercise in spastic cerebral palsy children (mean age of 11 years and also to compare with those of normal children. Materials & Methods : Fifteen dipelegia spastic cerebral palsy children (experimental group participated in exercise–rehabilitation program by voluntarily and the peers eighteen able body children(control group were selected randomly. The experimental group(cp performed rehabilitation program for 3 months,3 session in week with work intensity(%HRR=462.5equal to144bpm of heart rate. The values were measured on tantory cycle ergometer according to Macmaster protocol.Results: Rest and exercise heart rate and exercise intensity(%HRR in patients decreased after rehabilitation program(P<0.05. The resting energy expenditure was similar in cp and normal groups. The rate of oxygen cost of patients decreased in post test(P<0.05 that showed increasing in metabolic efficiency.Conclusion: cerebral palsy children have greater exercise energy cost and lower cardiovascular fitness than normal children and exercise–rehabilitation leads to enhance of metabolic efficiency in this patients that is remarkable from clinical perception.

  18. Evaluation of the effect of the reduction of the hip spastic dislocation in adolescent and young adult with cerebral paralysis

    International Nuclear Information System (INIS)

    Contreras Calderon, Jose; Zambrano, Gladis Cecilia; Villanueva, Erland; Turriago, Camilo Andres

    2006-01-01

    We present the results obtained in the Instituto de Ortopedia Infantil Roosevelt for the treatment of the hip dislocation in adolescent patients and young adults with spastic cerebral palsy with the open reduction of the hip, accompanied by femoral osteotomy and, if as necessary, pelvic osteotomy. 14 hips (10 patients) were intervened from January of 1996 to July of 2003. Pain was completely released in 54 percent and improved in 36 percent of cases. Abduction improved in 63 percent of patients allowing the perinea cleaning in 63 percent and better tolerance to scar in 64% of the cases. Our complications were one patient developed a sacred pressure ulcer with the spica cast treated with a free flap transposition; one hip had redislocation at 31 months from surgery; another hip had instability without clinical repercussion; one patient had a not displaced supracondylar femoral fracture treated with immobilization. The results of our study showed that the open reduction of the spastic hip in adolescents and young adults is a procedure that improves, in most of the cases, the stability, mobility and pain of the hip and provides better quality life for these patients

  19. Clinical pathophysiology of human T-lymphotropic virus-type1-associated myelopathy/tropical spastic paraparesis

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    Yoshihisa eYamano

    2012-11-01

    Full Text Available Human T-lymphotropic virus type 1 (HTLV-1, a human retrovirus, is the causative agent of a progressive neurological disease termed HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP. HAM/TSP is a chronic inflammatory disease of the central nervous system and is characterized by unremitting myelopathic symptoms such as spastic paraparesis, lower limb sensory disturbance, and bladder/bowel dysfunction. Approximately 0.25%–3.8% of HTLV-1-infected individuals develop HAM/TSP, which is more common in women than in men. Since the discovery of HAM/TSP, significant advances have been made with respect to elucidating the virological, molecular, and immunopathological mechanisms underlying this disease. These findings suggest that spinal cord invasion by HTLV-1-infected T cells triggers a strong virus-specific immune response and increases proinflammatory cytokine and chemokine production, leading to chronic lymphocytic inflammation and tissue damage in spinal cord lesions. However, little progress has been made in the development of an optimal treatment for HAM/TSP, more specifically in the identification of biomarkers for predicting disease progression and of molecular targets for novel therapeutic strategies targeting the underlying pathological mechanisms. This review summarizes current clinical and pathophysiological knowledge on HAM/TSP and discusses future focus areas for research on this disease.

  20. The effect of reflexology upon spasticity and function among children with cerebral palsy who received physiotherapy: Three group randomised trial.

    Science.gov (United States)

    Özkan, Filiz; Zincir, Handan

    2017-08-01

    To assess the effectiveness of reflexology method upon spasticity and function among children with cerebral palsy who received physiotherapy. A three group, randomised trial with blinded evaluator. Randomization was made sealed and opaque envelopes. 45 children with cerebral palsy who were trained at a Special Education and Rehabilitation Centre. In the reflexology and placebo group; a 20min reflexology was performed twice a week in a total 24 sessions. In the control group; no intervention was done. Before and after the implementation; measurements of the participants were obtained. The data were collected using Gross Motor Function Measure, Modified Ashworth Scale (MAS), Modified Tardieu Scale, Pediatric Functional Independence Scale, Pediatric Quality of Life Scale (PedsQL) and demographic data. A total of 45 children completed the study. The groups were homogeneous at baseline. Between right MAS Gastrocnemius muscle was a difference and right and left Soleus muscles was significant among the groups (p0.05). Reflexology with physiotherapy reduced spasticity in legs, improved gross motor functions, decreased dependency but led to no change in quality of life. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Evaluation of Hand Stereognosis Level in 3-6 years Old Children with Spastic Hemiplegia and Diplegia

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    Minou Kalantari

    2013-07-01

    Full Text Available Objective: One of the most prevalent sensory problems in cerebral palsy is Astereognosis which has special importance in daily manual functions. The purpose of this study was to determine the level of hand stereognosis using common objects and geometric shapes in children with spastic hemiplegia and diplegia. Materials & Methods: In this cross sectional study, 20 children with cerebral palsy between 3-6 years old (9 males, 11 females with mean age (hemiplegya: 55months, diplegya: 57months were selected through nonrandomized convinience sampling referd to Occupational Therapy centers of Shahid Beheshti University of Medical Sciences. Stereognosis was evaluated using geometric shapes (square, circle, rectangular, triangle and common objects (pencil, key, coin, nail, teaspoon and screw and test special board. The data were analyzed by Mixed Analysis of Variance and Regression statistical tests. Results: There was no significant regression between common objects stereognosis score and age in hemiplegic childrenbut this regression was significant for stereognosis score of geometric shapes (P=0.027. There was no significant regression between stereognosis score of common objects and geometric shapes in diplegic children. The Main effects of gender was not significant in stereognosis of children with spastic hemiplegia and diplegia, also main effects of hand were not significant in two groups. Conclusion: There was no significant difference between stereognosis of affected and unaffected hand in hemiplegic childrenand between right and left hands in diplegic children. Also There was no significant regression between age and stereognosis score of geometric shapes in diplegic children .

  2. Dorsal rhizotomy for children with spastic diplegia of cerebral palsy origin: usefulness of intraoperative monitoring.

    Science.gov (United States)

    Georgoulis, George; Brînzeu, Andrei; Sindou, Marc

    2018-04-13

    OBJECTIVE The utility of intraoperative neuromonitoring (ION), namely the study of muscle responses to radicular stimulation, remains controversial. The authors performed a prospective study combining ventral root (VR) stimulation for mapping anatomical levels and dorsal root (DR) stimulation as physiological testing of metameric excitability. The purpose was to evaluate to what extent the intraoperative data led to modifications in the initial decisions for surgical sectioning established by the pediatric multidisciplinary team (i.e., preoperative chart), and thus estimate its practical usefulness. METHODS Thirteen children with spastic diplegia underwent the following surgical protocol. First, a bilateral intradural approach was made to the L2-S2 VRs and DRs at the exit from or entry to their respective dural sheaths, through multilevel interlaminar enlarged openings. Second, stimulation-just above the threshold-of the VR at 2 Hz to establish topography of radicular myotome distribution, and then of the DR at 50 Hz as an excitability test of root circuitry, with independent identification of muscle responses by the physiotherapist and by electromyographic recordings. The study aimed to compare the final amounts of root sectioning-per radicular level, established after intraoperative neuromonitoring guidance-with those determined by the multidisciplinary team in the presurgical chart. RESULTS The use of ION resulted in differences in the final percentage of root sectioning for all root levels. The root levels corresponding to the upper lumbar segments were modestly excitable under DR stimulation, whereas progressively lower root levels displayed higher excitability. The difference between root levels was highly significant, as evaluated by electromyography (p = 0.00004) as well as by the physiotherapist (p = 0.00001). Modifications were decided in 11 of the 13 patients (84%), and the mean absolute difference in the percentage of sectioning quantity per radicular

  3. Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.

    Science.gov (United States)

    Kutkowska-Kaźmierczak, Anna; Rydzanicz, Małgorzata; Chlebowski, Aleksander; Kłosowska-Kosicka, Kamila; Mika, Adriana; Gruchota, Jakub; Jurkiewicz, Elżbieta; Kowalewski, Cezary; Pollak, Agnieszka; Stradomska, Teresa Joanna; Kmieć, Tomasz; Jakubowski, Rafał; Gasperowicz, Piotr; Walczak, Anna; Śladowski, Dariusz; Jankowska-Steifer, Ewa; Korniszewski, Lech; Kosińska, Joanna; Obersztyn, Ewa; Nowak, Wieslaw; Śledziński, Tomasz; Dziembowski, Andrzej; Płoski, Rafał

    2018-06-01

    Ichthyosis and neurological involvement occur in relatively few known Mendelian disorders caused by mutations in genes relevant both for epidermis and neural function. To identify the cause of a similar phenotype of ichthyotic keratoderma, spasticity, mild hypomyelination (on MRI) and dysmorphic features (IKSHD) observed in two unrelated paediatric probands without family history of disease. Whole exome sequencing was performed in both patients. The functional effect of prioritised variant in ELOVL1 (very-long-chain fatty acids (VLCFAs) elongase) was analysed by VLCFA profiling by gas chromatography-mass spectrometry in stably transfected HEK2932 cells and in cultured patient's fibroblasts. Probands shared novel heterozygous ELOVL1 p.Ser165Phe mutation (de novo in one family, while in the other family, father could not be tested). In transfected cells p.Ser165Phe: (1) reduced levels of FAs C24:0-C28:0 and C26:1 with the most pronounced effect for C26:0 (P=7.8×10 -6  vs HEK293 cells with wild type (wt) construct, no difference vs naïve HEK293) and (2) increased levels of C20:0 and C22:0 (P=6.3×10 -7 , P=1.2×10 -5 , for C20:0 and C22:0, respectively, comparison vs HEK293 cells with wt construct; P=2.2×10 -7 , P=1.9×10 -4 , respectively, comparison vs naïve HEK293). In skin fibroblasts, there was decrease of C26:1 (P=0.014), C28:0 (P=0.001) and increase of C20:0 (P=0.033) in the patient versus controls. There was a strong correlation (r=0.92, P=0.008) between the FAs profile of patient's fibroblasts and that of p.Ser165Phe transfected HEK293 cells. Serum levels of C20:0-C26:0 FAs were normal, but the C24:0/C22:0 ratio was decreased. The ELOVL1 p.Ser165Phe mutation is a likely cause of IKSHD. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  4. Kinematic aiming task: measuring functional changes in hand and arm movements after botulinum toxin-A injections in children with spastic hemiplegia.

    NARCIS (Netherlands)

    Rameckers, E.A.A.; Speth, L.A.; Duysens, J.E.J.; Vles, J.S.; Smits-Engelsman, B.C.M.

    2007-01-01

    OBJECTIVE: To describe different aspects of a kinematic aiming task (KAT) as a quantitative way to assess changes in arm movements within 2 wks after botulinum toxin-A (BTX-A) injections in children with spastic hemiplegia. DESIGN: Intervention study randomized clinical trial; follow-up within 4 wks

  5. The positive effect of mirror visual feedback on arm control in children with Spastic hemiparetic cerebral palsy is dependent on which arm is viewed

    NARCIS (Netherlands)

    Smorenburg, A; Ledebt, A.; Feltham, M.; Deconinck, F.; Savelsbergh, G.J.P.

    2011-01-01

    Mirror visual feedback has previously been found to reduce disproportionate interlimb variability and neuromuscular activity in the arm muscles in children with Spastic Hemiparetic Cerebral Palsy (SHCP). The aim of the current study was to determine whether these positive effects are generated by

  6. Global gene expression analysis of rodent motor neurons following spinal cord injury associates molecular mechanisms with development of post-injury spasticity

    DEFF Research Database (Denmark)

    Wienecke, Jacob; Westerdahl, Ann-Charlotte; Hultborn, Hans

    2010-01-01

    Spinal cord injury leads to severe problems involving impaired motor, sensory and autonomic functions. After spinal injury there is an initial phase of hypo-reflexia followed by hyper-reflexia, often referred to as spasticity. Previous studies have suggested a relationship between the reappearanc...

  7. Long term effect (more than five years) of intrathecal baclofen on impairment, disability, and quality of life in patients with severe spasticity of spinal origin

    NARCIS (Netherlands)

    Zahavi, A; Geertzen, JHB; Middel, B; Staal, M; Rietman, JS

    2004-01-01

    Objectives: To evaluate long term change in impairment, disability, and health related functional status in patients with severe spasticity who received intrathecal baclofen. Methods: A long term ( more than five years) observational longitudinal follow up study assessing 21 patients who received

  8. The effect of the Nintendo Wii Fit on balance control and gross motor function of children with spastic hemiplegic cerebral palsy

    NARCIS (Netherlands)

    Jelsma, Jennifer; Pronk, Marieke; Ferguson, Gillian; Jelsma-Smit, Dorothee

    2013-01-01

    Objective: To study the impact of training using the Nintendo Wii Fit in 14 children with spastic hemiplegic cerebral palsy. Methods: A single-subject single blinded design with multiple subjects and baselines was utilised. Interactive video gaming (IVG) in lieu of regular physiotherapy was given

  9. Benefits of Repetitive Transcranial Magnetic Stimulation (rTMS for Spastic Subjects: Clinical, Functional, and Biomechanical Parameters for Lower Limb and Walking in Five Hemiparetic Patients

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    Luc Terreaux

    2014-01-01

    Full Text Available Introduction. Spasticity is a disabling symptom resulting from reorganization of spinal reflexes no longer inhibited by supraspinal control. Several studies have demonstrated interest in repetitive transcranial magnetic stimulation in spastic patients. We conducted a prospective, randomized, double-blind crossover study on five spastic hemiparetic patients to determine whether this type of stimulation of the premotor cortex can provide a clinical benefit. Material and Methods. Two stimulation frequencies (1 Hz and 10 Hz were tested versus placebo. Patients were assessed clinically, by quantitative analysis of walking and measurement of neuromechanical parameters (H and T reflexes, musculoarticular stiffness of the ankle. Results. No change was observed after placebo and 10 Hz protocols. Clinical parameters were not significantly modified after 1 Hz stimulation, apart from a tendency towards improved recruitment of antagonist muscles on the Fügl-Meyer scale. Only cadence and recurvatum were significantly modified on quantitative analysis of walking. Neuromechanical parameters were modified with significant decreases in Hmax⁡ /Mmax⁡ and T/Mmax⁡ ratios and stiffness indices 9 days or 31 days after initiation of TMS. Conclusion. This preliminary study supports the efficacy of low-frequency TMS to reduce reflex excitability and stiffness of ankle plantar flexors, while clinical signs of spasticity were not significantly modified.

  10. Cumulative vibratory indices and the H/M ratio of the soleus H-reflex: a quantitative study in control and spastic subjects

    NARCIS (Netherlands)

    Ongerboer de Visser, B. W.; Bour, L. J.; Koelman, J. H.; Speelman, J. D.

    1989-01-01

    Suppression of the soleus (Sol) H-reflex recruitment curve by Achilles tendon vibration and the ratio of maximum Sol H-reflex (Hmax) to maximum M-response (H/M ratio) have been studied by means of computer processing on the basis of peak-to-peak (P-P) and area values in 46 controls and in 16 spastic

  11. Stimulus Evaluation, Event Preparation, and Motor Action Planning in Young Patients With Mild Spastic Cerebral Palsy : An Event-Related Brain Potential Study

    NARCIS (Netherlands)

    Hakkarainen, Elina; Pirila, Silja; Kaartinen, Jukka; van der Meere, Jaap J.

    The study investigated stimulus evaluation time, event preparation, and motor action planning of patients with mild spastic cerebral palsy and a peer control group in the age range of 9 to 18 years. To this end, participants were carrying out a stimulus recognition task. Findings indicated an

  12. Value of botulinum toxin injections preceding a comprehensive rehabilitation period for children with spastic cerebral palsy: A cost-effectiveness study

    NARCIS (Netherlands)

    F.C. Schasfoort (Fabiënne); A.J. Dallmeijer (Annet); R.F. Pangalila (Robert); C. Catsman (Coriene); H.J. Stam (Henk); J.G. Becher (Jules); E.W. Steyerberg (Ewout W.); S. Polinder (Suzanne); J.B.J. Bussmann (Hans); H.L.D. Horemans (Herwin); E.M. Sneekes (E.); Bolster, E. (Eline); Viola, I. (Irma); Beek, K. (Karlijn) van; J.M.A. Verheijden (Johannes)

    2018-01-01

    textabstractObjective: Despite the widespread use of botulinum toxin in ambulatory children with spastic cerebral palsy, its value prior to intensive physiotherapy with adjunctive casting/orthoses remains unclear. Design: A pragmatically designed, multi-centre trial, comparing the effectiveness of

  13. Relationship between the Modified Modified Ashworth Scale and the Biomechanical Measure in Assessing Knee Extensor Muscle Spasticity in Patients with Post-Stroke Hemiparesia:A Pilot Study

    Directory of Open Access Journals (Sweden)

    N. Nakhostin Ansari

    2014-07-01

    Full Text Available Introduction & Objective: The Modified Modified Ashworth Scale (MMAS is a clinical meas-ure that has been recently developed for the assessment of muscle spasticity. There is a dearth of research on the validity of the MMAS. The aim of the present study was to investi-gate the relationship between the MMAS and the biomechanical measure of work-velocity slope in assessing knee extensor muscle spasticity in patients with hemiparesia. Materials & Methods: Fourteen patients with post-stroke hemiparesia were included in this cross sectional study. Knee extensor spasticity was assessed with MMAS. An isokinetic dy-namometer was used to impose knee passive flexion with the angular velocity of 10, 30, 60, and 90 °/Sec to measure Torque-angle data. Work (Joule was calculated at each velocity to determine the slope of the work-velocity curves as the biomechanical measure of muscle spasticity. Results: The mean work decreased as the velocity increased but was not statistically signifi-cant (P = 0.07. The mean slope was – 0.35 [J /(°/Sec]. There was no significant correlation between the MMAS and the work-velocity slope (r =0.31, P = 0.28. Conclusion: There was no significant relationship between the MMAS and the biomechanical measure of work-velocity slope. Further studies with larger sample size are suggested. (Sci J Hamadan Univ Med Sci 2014; 21 (2: 131-136

  14. Spasticity and contractures at the wrist after stroke: time course of development and their association with functional recovery of the upper limb

    NARCIS (Netherlands)

    Malhotra, S.; Malhotra, S.; Pandyan, A.D.; Rosewilliam, S.; Roffe, C.; Hermens, Hermanus J.

    Objective: To investigate the time course of development of spasticity and contractures at the wrist after stroke and to explore if these are associated with upper limb functional recovery. - Design: Longitudinal observational study using secondary data from the control group of a randomized

  15. [Consensus document on spasticity in patients with multiple sclerosis. Grupo de Enfermedades Desmielinizantes de la Sociedad Española de Neurología].

    Science.gov (United States)

    Oreja-Guevara, Celia; Montalban, Xavier; de Andrés, Clara; Casanova-Estruch, Bonaventura; Muñoz-García, Delicias; García, Inmaculada; Fernández, Óscar

    2013-10-16

    Multiple sclerosis is a chronic neurological inflammatory demyelinating disease. Specialists involved in the symptomatic treatment of this disease tend to apply heterogeneous diagnostic and treatment criteria. To establish homogeneous criteria for treating spasticity based on available scientific knowledge, facilitating decision-making in regular clinical practice. A group of multiple sclerosis specialists from the Spanish Neurological Society demyelinating diseases working group met to review aspects related to spasticity in this disease and draw up the consensus. After an exhaustive bibliographic search and following a metaplan technique, a number of preliminary recommendations were established to incorporate into the document. Finally, each argument was classified depending on the degree of recommendation according to the SIGN (Scottish Intercollegiate Guidelines Network) system. The resulting text was submitted for review by the demyelinating disease group. An experts' consensus was reached regarding spasticity triggering factors, related symptoms, diagnostic criteria, assessment methods, quality of life and therapeutic management (drug and non-drug) criteria. The recommendations included in this consensus can be a useful tool for improving the quality of life of multiple sclerosis patients, as they enable improved diagnosis and treatment of spasticity.

  16. The Profile of Patients and Current Practice of Treatment of Upper Limb Muscle Spasticity with Botulinum Toxin Type A: An International Survey

    Science.gov (United States)

    Bakheit, Abdel Magid

    2010-01-01

    To document the current practice in relation with the treatment of patients with upper limb spasticity with botulinum toxin type A to inform future research in this area. We designed an international, cross-sectional, noninterventional survey of current practice. Nine hundred and seventy-four patients from 122 investigational centres in 31…

  17. Benefits of repetitive transcranial magnetic stimulation (rTMS) for spastic subjects: clinical, functional, and biomechanical parameters for lower limb and walking in five hemiparetic patients.

    Science.gov (United States)

    Terreaux, Luc; Gross, Raphael; Leboeuf, Fabien; Desal, Hubert; Hamel, Olivier; Nguyen, Jean Paul; Pérot, Chantal; Buffenoir, Kévin

    2014-01-01

    Introduction. Spasticity is a disabling symptom resulting from reorganization of spinal reflexes no longer inhibited by supraspinal control. Several studies have demonstrated interest in repetitive transcranial magnetic stimulation in spastic patients. We conducted a prospective, randomized, double-blind crossover study on five spastic hemiparetic patients to determine whether this type of stimulation of the premotor cortex can provide a clinical benefit. Material and Methods. Two stimulation frequencies (1 Hz and 10 Hz) were tested versus placebo. Patients were assessed clinically, by quantitative analysis of walking and measurement of neuromechanical parameters (H and T reflexes, musculoarticular stiffness of the ankle). Results. No change was observed after placebo and 10 Hz protocols. Clinical parameters were not significantly modified after 1 Hz stimulation, apart from a tendency towards improved recruitment of antagonist muscles on the Fügl-Meyer scale. Only cadence and recurvatum were significantly modified on quantitative analysis of walking. Neuromechanical parameters were modified with significant decreases in H max⁡ /M max⁡ and T/M max⁡ ratios and stiffness indices 9 days or 31 days after initiation of TMS. Conclusion. This preliminary study supports the efficacy of low-frequency TMS to reduce reflex excitability and stiffness of ankle plantar flexors, while clinical signs of spasticity were not significantly modified.

  18. Magnetic resonance imaging for Human T-cell lymphotropic virus type 1 (HTLV1- associated myelopathy/tropical spastic paraparesis patients: a systematic review

    Directory of Open Access Journals (Sweden)

    Fariba Zemorshidi

    2015-06-01

    Full Text Available Introduction: Human T-cell lymphotropic virus type 1 (HTLV-1 associated myelopathy/tropical spastic paraparesis is a chronic progressive neurologic disease which might be associated by brain and spinal cord atrophy and lesions. Here we systematically reviewed the brain and spinal cord abnormalities reported by using magnetic resonance imaging modality on HTLV-1 associated myelopathy/tropical spastic paraparesis patients. Methods: PubMed was searched for all the relevant articles which used magnetic resonance imaging for patients with human HTLV-1 associated myelopathy/tropical spastic paraparesis disease. Included criteria were all the cohort and case series on with at least 10 patients. We had no time limitation for searched articles, but only English language articles were included in our systematic review. Exclusion criteria were none-English articles, case reports, articles with less than 10 patients, spastic paraparesis patients with unknown etiology, and patients with HTLVII. Results: Total of 14 relevant articles were extracted after studying title, abstracts, and full text of the irrelevant articles. Only 2/14 articles, reported brain atrophy incidence. 5/14 articles studied the brain lesions prevalence. Spinal cord atrophy and lesions, each were studied in 6/14 articles.Discussion: According to the extracted data, brain atrophy does not seem to happen frequently in patients with HTLV-1 associated myelopathy/tropical spastic paraparesis. None-specific brain lesions identified in articles are indicative of low specificity of magnetic resonance imaging technique despite its high sensitivity. Conclusion: Prevalence of spinal cord lesions and atrophy in these patients might be due to the degenerative processes associated with aging phenomenon. Further larger studies in endemic areas can more accurately reveal the specificity of magnetic resonance imaging for these patients.

  19. The effect of Sub-maximal exercise-rehabilitation program on cardio-respiratory endurance indexes and oxygen pulse in patients with spastic cerebral palsy

    Directory of Open Access Journals (Sweden)

    M Izadi

    2006-05-01

    Full Text Available Background: Physical or cardio-respiratory fitness are of the best important physiological variables in children with cerebral palsy (CP, but the researches on exercise response of individuals with CP are limited. Our aim was to determine the effect of sub-maximal rehabilitation program (aerobic exercise on maximal oxygen uptake, oxygen pulse and cardio- respiratory physiological variables of children with moderate to severe spastic cerebral palsy diplegia and compare with able-bodied children. Methods: In a controlled clinical trial study, 15 children with diplegia spastic cerebral palsy, were recruited on a voluntarily basis (experimental group and 18 subjects without neurological impairments selected as control group. In CP group, aerobic exercise program performed on the average of exercise intensity (144 beat per minute of heart rate, 3 times a week for 3 months. The time of each exercise session was 20-25 minutes. Dependent variables were measured in before (pretest and after (post test of rehabilitation program through Mac Master Protocol on Tantories cycle ergometer in CP group and compared with the control group. Results: The oxygen pulse (VO2/HR during ergometery protocol was significantly lower in CP group than normal group (P<0.05. No significant statistical difference in maximal oxygen uptake (VO2 max was found between groups. The rehabilitation program leads to little increase of this variable in CP group. After sub-maximal exercise in pretest and post test, the heart rate of patient group was greater than control group, and aerobic exercise leads to significant decrease in heart rate in CP patients(P<0.05. Conclusion: The patients with spastic cerebral palsy, because of high muscle tone, severe spasticity and involuntarily movements have higher energy cost and lower aerobic fitness than normal people. The rehabilitation exercise program can improve physiological function of muscle and cardio-respiratory endurance in these

  20. Tax posttranslational modifications and interaction with calreticulin in MT-2 cells and human peripheral blood mononuclear cells of human T cell lymphotropic virus type-I-associated myelopathy/tropical spastic paraparesis patients.

    Science.gov (United States)

    Medina, Fernando; Quintremil, Sebastian; Alberti, Carolina; Barriga, Andres; Cartier, Luis; Puente, Javier; Ramírez, Eugenio; Ferreira, Arturo; Tanaka, Yuetsu; Valenzuela, Maria Antonieta

    2014-04-01

    The human retrovirus human T cell lymphotropic virus type-I (HTLV-1) is the etiologic agent of HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). Axonal degeneration in HAM/TSP patients occurs without neuron infection, with the secreted viral Tax protein proposed to be involved. We previously found that Tax secreted into the culture medium of MT-2 cells (HTLV-1-infected cell line) produced neurite retraction in neuroblastoma cells differentiated to neuronal type. To assess the relevance of Tax posttranslational modifications on this effect, we addressed the question of whether Tax secreted by MT-2 cells and peripheral blood mononuclear cells (PBMCs) of HTLV-1-infected subjects is modified. The interaction of Tax with calreticulin (CRT) that modulates intracellular Tax localization and secretion has been described. We studied Tax localization and modifications in MT-2 cells and its interaction with CRT. Intracellular Tax in MT-2 cells was assessed by flow cytometry, corresponding mainly to a 71-kDa protein followed by western blot. This protein reported as a chimera with gp21 viral protein-confirmed by mass spectrometry-showed no ubiquitination or SUMOylation. The Tax-CRT interaction was determined by confocal microscopy and coimmunoprecipitation. Extracellular Tax from HAM/TSP PBMCs is ubiquitinated according to western blot, and its interaction with CRT was shown by coimmunoprecipitation. A positive correlation between Tax and CRT secretion was observed in HAM/TSP PBMCs and asymptomatic carriers. For both proteins inhibitors and activators of secretion showed secretion through the endoplasmic reticulum-Golgi complex. Tax, present in PBMC culture medium, produced neurite retraction in differentiated neuroblastoma cells. These results suggest that Tax, whether ubiquitinated or not, is active for neurite retraction.