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Sample records for bulbar palsy progressive

  1. UNUSUAL PRESENTATION OF BRAINSTEM GLIOMA AS PROGRESSIVE BULBAR PALSY

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    Suma

    2015-04-01

    Full Text Available Brain stem gliomas/astrocytomas are slowly growing tumors affecting children and young adults. They usually present with unilateral cranial nerve palsies followed by long tract signs. Here we present a case report of a 42 year old male patient, who initially presented with thyrotoxicosis and slowly progressing dysphagia, dysarthria and dysphonia with no other long tract signs, and was later found to have brain stem glioma.

  2. Paralisia bulbar progressiva juvenil doença de Fazio-Londe: relato de caso Progressive bulbar palsy (Fazio-Londe disease: case report

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    Bianca Helena Brum Batista

    2002-09-01

    Full Text Available A paralisia bulbar progressiva, também denominada doença de Fazio-Londe, caracteriza-se pelo acometimento degenerativo progressivo de nervos cranianos bulbares em crianças. Foi descrita primeiramente por Fazio em 1892 e até a presente data somente 30 casos foram relatados na literatura. Acomete ambos os sexos, assumindo dois padrões clínicos, um de início precoce (idade Progressive bulbar palsy, also called Fazio -Londe disease, is characterized by progressive impairment of cranial nerves in children. It was first reported by Fazio in 1892 and until now only 30 cases have been published in the literature. Both sexes can be affected and clinical course can be divided on early (< 6 years age, predominance of respiratory symptoms and late course (6-20 years of age, predominance of motor symptoms on superior limbs. We report a 4 years old boy that started with intense stridor and respiratory distress, initially being diagnosed as an acute asthma attack. Clinical signs worsened and 12 months latter he already had impairment of cranial nerves V, VII, VIII, IX and X confirmed by clinical examination and neurophysiological evaluation.

  3. Chiari malformation, syringomyelia and bulbar palsy in X linked hypophosphataemia.

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    Watts, Laura; Wordsworth, Paul

    2015-11-11

    X linked hypophosphataemia (XLH) is a rare condition with numerous musculoskeletal complications. It may mimic other more familiar conditions, such as vitamin D deficiency, ankylosing spondylitis or diffuse idiopathic skeletal hyperostosis. We describe two cases with Chiari type 1 malformations and syringomyelia, neither of which is well recognised in XLH. The first presented late with the additional complications of spinal cord compression, pseudofracture, renal stones and gross femoroacetabular impingement requiring hip replacement. The second also had bulbar palsy; the first case to be described in this condition, to the best of our knowledge. We wish to raise awareness of the important neurological complications of syringomyelia, Chiari malformation, spinal cord compression and bulbar palsy when treating these patients. We also wish to draw attention to the utility of family history and genetic testing when making the diagnosis of this rare but potentially treatable condition.

  4. Creutzfeldt-Jakob disease presenting as bulbar palsy.

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    Mittal, Manoj; Hammond, Nancy; Husmann, Kathrin; Lele, Abhijit; Pasnoor, Mamatha

    2010-11-01

    Creutzfeldt-Jakob disease (CJD) is a degenerative neurological disorder caused by a prion protein. The diagnosis may be challenging in unusual early presentations. A bulbar symptom as the initial complaint is a rare presentation for CJD, with only a few reports so far. These patients can be misdiagnosed with motor neuron disease or the Miller Fisher variant of Guillain-Barré syndrome. We describe a 69-year-old woman with CJD who presented with bulbar symptoms at the onset.

  5. A Case of Myasthenia Gravis Presenting Solely With Bulbar Palsy Not Associated With Easy Fatigability.

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    Pinank R. Mer

    2015-12-01

    present case shows that it is important to consider MG even in cases presenting solely with progressive bulbar palsy without easy fatigability.

  6. Genetics of Progressive Supranuclear Palsy

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    Sun Young Im

    2015-09-01

    Full Text Available Progressive supranuclear palsy (PSP is a neurodegenerative syndrome that is clinically characterized by progressive postural instability, supranuclear gaze palsy, parkinsonism and cognitive decline. Pathologically, diagnosis of PSP is based on characteristic features, such as neurofibrillary tangles, neutrophil threads, tau-positive astrocytes and their processes in basal ganglia and brainstem, and the accumulation of 4 repeat tau protein. PSP is generally recognized as a sporadic disorder; however, understanding of genetic background of PSP has been expanding rapidly. Here we review relevant publications to outline the genetics of PSP. Although only small number of familial PSP cases have been reported, the recognition of familial PSP has been increasing. In some familial cases of clinically probable PSP, PSP pathologies were confirmed based on NINDS neuropathological diagnostic criteria. Several mutations in MAPT, the gene that causes a form of familial frontotemporal lobar degeneration with tauopathy, have been identified in both sporadic and familial PSP cases. The H1 haplotype of MAPT is a risk haplotype for PSP, and within H1, a sub-haplotype (H1c is associated with PSP. A recent genome-wide association study on autopsyproven PSP revealed additional PSP risk alleles in STX6 and EIF2AK3. Several heredodegenerative parkinsonian disorders are referred to as PSP-look-alikes because their clinical phenotype, but not their pathology, mimics PSP. Due to the fast development of genomics and bioinformatics, more genetic factors related to PSP are expected to be discovered. Undoubtedly, these studies will provide a better understanding of the pathogenesis of PSP and clues for developing therapeutic strategies.

  7. [Progressive supranuclear palsy: what's new?].

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    Levy, Richard

    2011-06-01

    Progressive supranuclear palsy (PSP) has been described as a clinical syndrome characterized by an impairment of voluntary control of gaze (supranuclear palsy), postural and gait instability, and behavioral and cognitive deficits including a frontal syndrome and psychic retardation. However, in the recent years, at least four other clinical forms of PSP have been recognized: PSP-Parkinsonism, "pure akinesia with gait freezing", PSP with cortico-basal syndrome, and PSP with speech apraxia. PSP-Parkinsonism mimics the signs and symptoms of idiopathic Parkinson's disease, including a significant reactivity to levodopa. "Pure akinesia with gait freezing" is characterized by a difficulty of self-initiation of motor programs, usually walking program. PSP with cortico-basal syndrome mimics cortico-basal degeneration (CBD) in that unilateral or asymmetric limb dystonia and apraxia are prominent signs. PSP with speech apraxia is an isolated syndrome of progressive anarthria. All these clinical syndromes are due to brain accumulation of phosphorylated tau protein. The differences in clinical expression within the framework of PSP can be explained by the differences in the topographical distribution of the lesions. PSP is considered as a primary tau disease ("tauopathy") such as CBD and some forms of fronto-temporal lobar degeneration. At the level of neuropathology, the pattern of tau abnormal inclusions differentiates PSP from other tau diseases, but some overlaps are reported. Moreover, several of the clinical forms of PSP partially or fully overlap with the other tauopathies. As a whole, the emergence of new clinical forms of PSP challenges the nosology of tauopathies and our understanding of these diseases.

  8. Slow saccades in bulbar-onset motor neurone disease.

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    Donaghy, Colette; Pinnock, Ralph; Abrahams, Sharon; Cardwell, Chris; Hardiman, Orla; Patterson, Victor; McGivern, R Canice; Gibson, J Mark

    2010-07-01

    Historical studies of eye movements in motor neurone disease (MND) have been conflicting although current findings suggest that eye movement abnormalities relate to frontal lobe impairment. Numerous case reports, however, describe slow saccades and supranuclear gaze palsies in patients with MND often associated with bulbar-onset disease. We performed a study of saccades and smooth pursuit in a large group of patients with MND to examine for any differences between bulbar-onset and spinal-onset patients. Forty-four patients (14 bulbar-onset and 30 spinal-onset patients) and 45 controls were recruited. Reflexive saccades, antisaccades and smooth pursuit were examined using infra-red oculography and all subjects then underwent neuropsychological evaluation. Reflexive saccades were found to be slower in bulbar-onset compared to spinal-onset patients and controls (p = 0.03, p = 0.05). Antisaccade latency (p = 0.01) and antisaccade type 1 errors (p = 0.03, p = 0.04) were increased in patients compared to controls. 'Proportion of time spent in smooth pursuit' and smooth pursuit 'velocity gain' were reduced in patients compared to controls (p = 0.000, p = 0.001). Antisaccade errors and velocity gain correlated with neuropsychological measures sensitive to lesions of the frontal lobes. This is the first study to highlight the presence of slow saccades in bulbar-onset MND. These findings suggest that slow saccades may be due to increased brainstem pathology in bulbar-onset disease that involves burst cell neurons. Furthermore these observations highlight the potential for overlap between bulbar-onset MND and progressive supranuclear palsy (PSP) as both can have a bulbar palsy and slowed saccades.

  9. PHYSIOTHERAPY MANAGEMENT FOR PROGRESSIVE SUPRA NUCLEAR PALSY

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    P. Keerthi Chandra Shekhar.

    2013-06-01

    Full Text Available Background:An elderly patient with disturbances in gait, impaired balance, difficulty moving the eyes andhistory of frequent falls are not commonly seen in physiotherapy referral cases. Progressive supranuclear palsy(PSP is relatively uncommon and is the most frequently occurring form of Atypical Parkinsonism withcardinalfeatures of vertical gaze palsy, gait instability with frequent falls. However, because the initialclinical featuresoften resemble Parkinson’s disease (PD many patients are referred for rehabilitation services withthe wrongdiagnosis as PD. The progression of the symptoms in PSP is much faster than in PD and there is no cure oreffective medication to manage PSP. We describe a case of 59 years old male, patient who was referred tophysiotherapy department for asymmetric limb apraxia, markedly impaired balance and frequent falls duringtransitional movements. Two years before the patient was diagnosis as PD and later the patient was re-diag-nosed as PSP based on the progression of the disease. The patient was rehabilitated using coordination exer-cises and reciprocal rhythmic movements to reduce rigidity, transfer training exercises for balance,gait trainingusing weights strapped to ankles in parallel bar and visual tracking exercises. The exercises wereprogrammedfor 1 ½ hours a day, 5 days a week, for 8 weeks. After 15 weeks there was improvement in gait and balance ofthe patient with decrease in fall incidence on a Progressive Supranuclear Palsy Rating Scale (PSPRS.

  10. 3例以延髓麻痹为首发表现的肌萎缩侧索硬化的病例报告%A Report of 3 Cases: Amyotrophic Lateral Sclerosis (ALS) with Onset of Bulbar Palsy

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    贾红娟; 崔志堂; 闫俊杰; 吴英; 张锦

    2012-01-01

    Objective: Discuss the clinical feature of ALS with onset of bulbar palsy. Methods: Report 3 rare cases of ALS with onset of bulbar palsy symptoms such as dysarthria, and analysed its clinical features combined with literature review. Results: In ALS patients, bulbar pulsy as the first symptom is relative rare, and patients were apt to display the symptoms of dysarthria with shortened longevity and poor prognosis. Conclusions: For the ALS patients with onset of bulbar palsy symptoms, we should pay more attention to promptly symptomatic treatment for bulbar paralysis so as to improve the quality of life.%目的:探讨以延髓麻痹为首发症状的肌萎缩侧索硬化的临床特点.方法:报告3例以构音障碍等延髓麻痹症状起病的肌萎缩侧索硬化少见病例,结合文献复习,分析其临床特点.结果:在ALS患者中,以延髓麻痹为首发症状发生率相对较低,多见于老年人,最易表现为构音障碍,患者的生存期缩短,预后不良.结论:对于以延髓麻痹表现起病的ALS患者,要引起重视,及时针对延髓麻痹对症治疗,改善患者生活质量.

  11. Acute Thyrotoxic Bulbar Myopathy with Encephalopathic Behaviour: An Uncommon Complication of Hyperthyroidism

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    Neeraja J. Boddu

    2013-01-01

    Full Text Available Objective. Acute thyrotoxic bulbar palsy is rare, severe, and rapidly progressive. We describe a case of thyrotoxicosis with bulbar palsy, encephalopathy, and pyramidal tract dysfunction. Case Report. 64-year-old white male with toxic multinodular goiter presented with rapid atrial fibrillation. He had mild tremor, normal cranial nerve examination, 4/5 strength in all extremities, normal reflexes, and down going plantars. TSH was low at 0.09 (normal: 0.34–5.6 uIU/mL, and free T4 was high at 5.22 (normal: 0.47–1.41 ng/dL. Despite optimal AV nodal blockade, he had persistent rapid atrial fibrillation. He later developed cervical dystonia, rigidity, clonus, dysarthria, dysphagia, vocal cord palsy, and absent gag reflex. Thyroid storm was suspected. Neuroimaging and cerebrospinal fluid cultures were nondiagnostic. Acetylcholine receptor antibodies were negative. Swallow ability was impaired with heavy secretions. Remarkable improvement in symptoms was noted after initiation of treatment for thyroid storm. Conclusion. Pyramidal tract symptoms and bulbar palsy may occur with thyrotoxicosis. Cranial nerve involvement and encephalopathy raise a question of primary brain mechanism causing bulbar palsy. This is reversible with prompt treatment of thyroid storm.

  12. Regional Cerebral Perfusion in Progressive Supranuclear Palsy

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    Lee, Won Yong; Lee, Ki Hyeong; Yoon, Byung Woo; Lee, Sang Bok; Jeon, Beom S. [Samsung Medical Center, Seoul (Korea, Republic of); Lee, Kyung Han; Lee, Myung Chul [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1996-03-15

    Progressive supranuclear palsy (PSP) is a Parkinson-plus syndrome characterized clinically by supranuclear ophthalmoplegia, pseudobulbar palsy, axial rigidity, bradykinesia, postural instability and dementia. Presence of dementia and lack of cortical histopathology suggest the derangement of cortical function by pathological changes in subcortical structures in PSP, which is supported by the pattern of behavioral changes and measurement of brain metabolism using positron emission tomography. This study was done to examine whether there are specific changes of regional cerebral perfusion in PSP and whether there is a correlation between severity of motor abnormaility and degree of changes in cerebral perfusion. We measured regional cerebral perfusion indices in 5 cortical and 2 subcortical areas in 6 patients with a clinical diagnosis of PSP and 6 healthy age and sex matched controls using Tc-99m-HMPAO SPECT. Compared with age and sex matched controls, only superior frontal regional perfusion index was significantly decreased in PSP (p<0.05). There was no correlation between the severity of the motor abnormality and any of the regional cerebral perfusion indices (p>0.05). We affirm the previous reports that perfusion in superior frontal cortex is decreased in PSP. Based on our results that there was no correlation between severity of motor abnormality and cerebral perfusion in the superior frontal cortex, nonmotoric symptoms including dementia needs to be looked at whether there is a correlation with the perfusion abnormality in superior frontal cortex

  13. A case of atypical progressive supranuclear palsy

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    Spaccavento S

    2013-12-01

    Full Text Available Simona Spaccavento, Marina Del Prete, Angela Craca, Anna Loverre IRCCS Salvatore Maugeri Foundation, Cassano Murge, Bari, Italy Background: Progressive supranuclear palsy (PSP is a neurodegenerative extrapyramidal syndrome. Studies have demonstrated that PSP can present clinically as an atypical dementing syndrome dominated by a progressive apraxia of speech (AOS and aphasia. Aim: We aimed to investigate the clinical presentation of PSP, using a comprehensive multidimensional evaluation, and the disease response to various pharmacological treatments. Methods: A 72-year-old right-handed male, with 17 years education, who first presented with aphasia, AOS, depression, apathy, and postural instability at 69 years; a complete neuropsychological evaluation, tapping the different cognitive domains, was performed. Results: Testing revealed a moderate global cognitive deficit (Mini-Mental State Examination test score =20, low memory test scores (story recall, Rey’s 15-word Immediate and Delayed Recall, and poor phonemic and semantic fluency. The patient’s language was characterized by AOS, with slow speech rate, prolonged intervals between syllables and words, decreased articulatory accuracy, sound distortions, and anomia. Behavioral changes, such as depression, anxiety, apathy, and irritability, were reported. The neurological examination revealed supranuclear vertical gaze palsy, poor face miming, and a mild balance deficit. Magnetic resonance imaging showed only widespread cortical atrophy. Single photon emission computed tomography demonstrated left > right frontotemporal cortical abnormalities. After 6 months, a further neuropsychological assessment showed a progression in cognitive deficits, with additional attention deficits. The patient reported frequent falls, but the neurological deficits remained unchanged. Neuroimaging tests showed the same brain involvement. Conclusion: Our case highlights the heterogeneity of the clinical features in

  14. Amyotrophic Lateral Sclerosis Regional Variants (Brachial Amyotrophic Diplegia, Leg Amyotrophic Diplegia, and Isolated Bulbar Amyotrophic Lateral Sclerosis).

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    Jawdat, Omar; Statland, Jeffrey M; Barohn, Richard J; Katz, Jonathan S; Dimachkie, Mazen M

    2015-11-01

    Amyotrophic lateral sclerosis (ALS), a rapidly progressive, invariably fatal disease, involves mixed upper and lower motor neurons in different spinal cord regions. Patients with bulbar onset progress more rapidly than patients with limb onset or with a lower motor neuron presentation. Recent descriptions of regional variants suggest some patients have ALS isolated to a single spinal region for many years, including brachial amyotrophic diplegia, leg amyotrophic diplegia, and isolated bulbar palsy. Clearer definitions of regional variants will have implications for prognosis, understanding the pathophysiology of ALS, identifying genetic factors related to slower disease progression, and future planning of clinical trials.

  15. Progressive Supranuclear Palsy (PSP): Frequently Asked Questions

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    ... in this section for the benefit of others. PSP What does the name "supranuclear palsy" mean? In ... CurePSP. What are the common early symptoms of PSP? The most common first symptom, occurring on average ...

  16. Juvenile polymyositis with unremitting pain and progressive loss of motor and bulbar function on a background of sickle cell disease.

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    Bali, Shreya; D'Cruz, David; Lazaro, Marion; Inusa, Baba P D

    2015-03-27

    The diagnosis of acute autoimmune rheumatic disorders in sickle cell disease (SCD) can be challenging. Polymyositis is an inflammatory myopathy which, like SCD, may present with myalgia but is usually associated with proximal muscle weakness. We describe an adolescent boy presenting with limb pain, difficulty in mobilisation, with progressive loss of motor function and later bulbar weakness. Investigations showed massive elevation of creatine kinase, and MRI and muscle biopsy findings consistent with severe polymyositis. The patient was treated with corticosteroids, intravenous immunoglobulin and intensive rehabilitation therapy. He made a good recovery and was discharged on azathioprine and prednisolone. In the context of SCD, multisystem symptoms, unexplained muscle pain and weakness, unresponsive to conventional treatment in the presence of steady state haemoglobin, should alert the clinician to autoimmune phenomena. Key factors in making a diagnosis are an autoimmune screen and early discussion with a rheumatology expert.

  17. Juvenile polymyositis with unremitting pain and progressive loss of motor and bulbar function on a background of sickle cell disease

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    Bali, Shreya; D'Cruz, David; Lazaro, Marion; Inusa, Baba P D

    2015-01-01

    The diagnosis of acute autoimmune rheumatic disorders in sickle cell disease (SCD) can be challenging. Polymyositis is an inflammatory myopathy which, like SCD, may present with myalgia but is usually associated with proximal muscle weakness. We describe an adolescent boy presenting with limb pain, difficulty in mobilisation, with progressive loss of motor function and later bulbar weakness. Investigations showed massive elevation of creatine kinase, and MRI and muscle biopsy findings consistent with severe polymyositis. The patient was treated with corticosteroids, intravenous immunoglobulin and intensive rehabilitation therapy. He made a good recovery and was discharged on azathioprine and prednisolone. In the context of SCD, multisystem symptoms, unexplained muscle pain and weakness, unresponsive to conventional treatment in the presence of steady state haemoglobin, should alert the clinician to autoimmune phenomena. Key factors in making a diagnosis are an autoimmune screen and early discussion with a rheumatology expert. PMID:25819817

  18. Horizontal gaze palsy with progressive scoliosis: CT and MR findings

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    Bomfim, Rodrigo C.; Tavora, Daniel G.F.; Nakayama, Mauro; Gama, Romulo L. [Sarah Network of Rehabilitation Hospitals, Department of Radiology, Ceara (Brazil)

    2009-02-15

    Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and progressive scoliosis developing in childhood and adolescence. We present a child with clinical and neuroimaging findings typical of HGPPS. CT and MRI of the brain demonstrated pons hypoplasia, absence of the facial colliculi, butterfly configuration of the medulla and a deep midline pontine cleft. We briefly discuss the imaging aspects of this rare entity in light of the current literature. (orig.)

  19. Genetic analysis of frontotemporal dementia and progressive supra nuclear palsy

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    Ferrari, R.

    2014-01-01

    Genome-wide association study (GWAS) is an effective method for mapping genetic variants underlying common and complex diseases. This thesis describes the investigation of the disorders, frontotemporal dementia (FTD) and progressive supranuclear palsy (PSP). FTD affects the frontal/temporal lobes and presents behavioural changes (bvFTD), cognitive decline or language dysfunction (primary progressive aphasia [PPA]), whilst PSP affects predominantly the brain stem resulting in loss of balance, ...

  20. [Clinical features of a genetically identified spinal and 
bulbar muscular atrophy pedigree].

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    Wang, Zhe; Chen, Qihua; Li, Qiuxiang; Bi, Fangfang

    2016-10-28

    Spinal and bulbar muscular atrophy (SBMA) is a rare X-linked motor neuron disease with significant phenotypic viability. Here, we present a genetically identified SBMA family without bulbar paralysis or androgen insensitivity. All four male patients presented with progressive lower motor neuron paralysis in all limbs, with distal extremities more dominant. None of them had bulbar palsy or androgen insensitivity. A consistently mild elevated blood creatine phosphokinase (CPK) levels were detected in all patients and the EMG showed a chronic neurogenic damage. Muscle biopsy of propositus indicated a typical neurogenic amyotrophy. Genetic testing for SMA of mutation in SMN1 was negative, while for SBMA of androgen receptor showed the increased CAG repeat in exon 1, suggesting that although bulbar symptoms and androgen insensitivity are characteristic symptoms of SBMA, they are not obligatory for the diagnosis. In adult males with a chronic motor neuron syndrome without upper motor neuron signs, even in absence of the classical features of androgen insensitivity or bulbar findings, genetic testing for SBMA should be strongly considered.

  1. Progressive supranuclear palsy (PSP): Richardson syndrome and other PSP variants.

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    Lopez, G; Bayulkem, K; Hallett, M

    2016-10-01

    Phenotypic heterogeneity of progressive supranuclear palsy (PSP) has been increasingly reported in the literature and can be the source of incorrect clinical diagnosis particularly in the early stages of the disease when the classically associated symptoms of early falls and supranuclear gaze palsy may not be apparent. In addition to Richardson syndrome (RS), several atypical clinical phenotypes have been described. Advances in genetic, neuroimaging, and biochemical/molecular technologies contribute to the identification of these clinical subtypes in the context of typical PSP pathological findings. Our goal is to review the phenomenology reported in the literature that is associated with confirmed histopathological changes consistent with a PSP diagnosis and to highlight the clinical spectrum of PSP. A systematic review of the literature in PubMed through July 2015 using MeSH terms and key words related to PSP was conducted. Articles describing PSP classifications, diagnostic criteria, and case reports were reviewed and summarized. Additional PSP phenotypes not seen in recent clinicopathological studies are included. These include primary lateral sclerosis, pallido-nigro-luysian degeneration, axonal dystrophy, and multiple system atrophy in the spectrum of atypical PSP variants beyond the traditionally classified PSP subtypes. This review is intended to help with the diagnostic challenges of atypical PSP variants. We believe that large multicenter clinicopathological studies will help expand our understanding of etiology and specific mechanisms of neurodegeneration and will aid in the appropriate interpretation of outcomes when conducting clinical and basic science research.

  2. Lack of trigemino-cervical reflexes in progressive supranuclear palsy.

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    Bartolo, Michelangelo; Serrao, Mariano; Perrotta, Armando; Tassorelli, Cristina; Sandrini, Giorgio; Pierelli, Francesco

    2008-07-30

    Trigemino-cervical reflexes (TCRs) are multisynaptic neck muscle withdrawal responses that are clearly identifiable in humans. Mediated by neural circuits at brainstem level, these reflex responses have been found to be significantly impaired in patients with Parkinson's disease (PD), and it has been hypothesized that a degeneration of brainstem neural structures could play a role in these abnormalities. Because extensive neuronal degeneration at brainstem level has been demonstrated in progressive supranuclear palsy (PSP), in this pilot study we evaluated the TCR responses in 12 subjects with PSP, and in 16 healthy controls. The TCRs were absent in 11 out of the 12 PSP patients while clear responses were evoked in all the healthy subjects. These findings indicate that PSP patients are unable to react to the painful stimuli to the face, suggesting a generalized impairment of the brainstem circuits mediating TCRs.

  3. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

    NARCIS (Netherlands)

    G. Hoglinger (Gunter); N.M. Melhem (Nadine); D. Dickson (Dennis); P.M.A. Sleiman (Patrick); L.-S. Wang; L. Klei (Lambertus); R. Rademakers (Rosa); R. de Silva (Rohan); I. Litvan (Irene); D.E. Riley (David); J.C. van Swieten (John); P. Heutink (Peter); Z.K. Wszolek (Zbigniew); R.J. Uitti (Ryan); J. Vandrovcova (Jana); H.I. Hurtig (Howard); R.G. Gross (Rachel); W. Maetzler (Walter); S. Goldwurm (Stefano); E. Tolosa; B. Borroni (Barbara); P. Pastor (Pau); L.B. Cantwell (Laura); M.R. Han; A. Dillman (Allissa); M.P. van der Brug (Marcel); J. Gibbs (Raphael); M.R. Cookson (Mark); D.G. Hernandez (Dena); A. Singleton (Andrew); M.J. Farrer (Matthew); C.-E. Yu (Changen); L.I. Golbe (Lawrence); T. Revesz (Tamas); J. Hardy (John); A.J. Lees (Andrew); B. Devlin (Bernie); H. Hakonarson (Hakon); U. Müller (Ulrich); G.D. Schellenberg (Gerard); R.L. Albin (Roger); E. Alonso (Elena); M. Apfelbacher (Manuela); S.E. Arnold (Steven); J. Avila (Jesús); T.G. Beach (Thomas); S. Beecher (Sherry); D. Berg (Daniela); T.D. Bird (Thomas); N. Bogdanović (Nenad); A.J.W. Boon (Andrea); Y. Bordelon (Yvette); A. Brice (Alexis); H. Budka (Herbert); M. Canesi (Margherita); W.Z. Chiu (Wang Zheng); R. Cilia (Roberto); C. Colosimo (Carlo); P.P. de Deyn (Peter); J.G. de Yebenes; L. Donker Kaat (Laura); R. Duara (Ranjan); A. Durr; S. Engelborghs (Sebastiaan); G. Fabbrini (Giovanni); N.A. Finch (Nicole); R. Flook (Robyn); M.P. Frosch (Matthew); C. Gaig; D. Galasko (Douglas); T. Gasser (Thomas); M. Gearing (Marla); E.T. Geller (Evan); B. Ghetti (Bernardino); N.R. Graff-Radford (Neill); M. Grossman (Murray); D.A. Hall (Deborah); L.-N. Hazrati; M. Höllerhage (Matthias); J. Jankovic (Joseph); J.L. Juncos (Jorge); A. Karydas (Anna); H.A. Kretzschmar (Hans); I. Leber (Isabelle); V.M.Y. Lee (Virginia); A.P. Lieberman (Andrew); K.E. Lyons (Kelly); C. Mariani (Claudio); E. Masliah (Eliezer); L.A. Massey (Luke); C.A. McLean (Catriona); N. Meucci (Nicoletta); B.L. Miller (Bruce); B. Mollenhauer (Brit); J.C. Möller (Jens); H. Morris (Huw); S.S. O'Sullivan (Sean); W. Oertel; D. Ottaviani (Donatella); A. Padovani (Alessandro); R. Pahwa (Rajesh); G. Pezzoli (Gianni); S. Pickering-Brown (Stuart); W. Poewe (Werner); A. Rabano (Alberto); A. Rajput (Alex); S.G. Reich (Stephen); G. Respondek (Gesine); S. Roeber (Sigrun); J.D. Rohrer (Jonathan Daniel); O.A. Ross (Owen); M. Rossor (Martin); G. Sacilotto (Giorgio); W.W. Seeley (William); K. Seppi (Klaus); L. Silveira-Moriyama (Laura); S. Spina (Salvatore); K. Srulijes (Karin); P. St. George-Hyslop (Peter); M. Stamelou (Maria); D.G. Standaert (David); S. Tesei (Silvana); W.W. Tourtellotte (Wallace); C. Trenkwalder (Claudia); C. Troakes (Claire); J.Q. Trojanowski (John); J.C. Troncoso (Juan); V.M. Deerlin (Vivianna); J.P.G. Vonsattel; G.K. Wenning (Gregor); C.L. White III (Charles); P. Winter (Pia); C. Zarow (Chris); A.L. Zecchinelli (Anna); A. Antonini (Angelo)

    2011-01-01

    textabstractProgressive supranuclear palsy (PSP) is a movement disorder with prominent tau neuropathology. Brain diseases with abnormal tau deposits are called tauopathies, the most common of which is Alzheimer's disease. Environmental causes of tauopathies include repetitive head trauma associated

  4. Clinical features of progressive supranuclear palsy in 105 Chinese patients

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    Jing Hou; Ruibiao Guo; Tong Chen; Xiaohong Zhang; Weiping Wu; Zhenfu Wang

    2011-01-01

    OBJECTIVE: To thoroughly investigate clinical characteristics of progressive supranuclear palsy (PSP) in a Chinese population.METHODS: Computer-based online searches through China National Knowledge Infrastructure and Weipu Periodical Database were performed to collect case reports of PSP published between 1980 and 2009. Clinical characteristics were analyzed.RESULTS: A total of 58 studies comprising 105 patients (76 males and 29 females) were included. All cases were sporadic and free of family history. The mean age at onset was 60.6 ± 9.1 years, and the mean course from onset of symptoms to diagnosis was 3.4 ± 2.4 years. The male-to-female ratio was approximately 3: 1. Onset was characterized by akinetic-rigid features and accounted for 34.3% of all cases, followed by early postural instability (25.5%), pseudobulbar palsy (9.8%), cognitive impairment (9.8%), and vertical supranuclear ophthalmoplegia (7.8%). With disease progression, vertical supranuclear ophthalmoplegia was reported in 95.1% of cases, followed by akinetic-rigid features (83.3%), pseudobulbar palsy (82.4%), axial dystonia (75.5%), cognitive impairment (72.5%), and early postural instability (69.6%). A total of 70.5% of patients exhibited abnormal electroencephalograms, and 21.4% exhibited mild abnormalities in cerebrospinal fluid. Brain CT scanning results of 37 patients showed 37.8% with midbrain and concurrent cerebral hemisphere atrophy, and 5.4% and 24.3% with midbrain and cerebral hemisphere atrophy, respectively. Brain MRI scanning results of 55 patients revealed a total of 16.4% patients with midbrain atrophy, 23.6% with midbrain and concurrent cerebral hemisphere atrophy, 32.7% with cerebral hemisphere atrophy, and 11% with brainstem atrophy. The percentage of midbrain atrophy revealed by MRI was greater than by CT. All 11 patients subjected to Mini-Mental State Examination scored < 23. A total of 10 patients underwent brain electrophysiological examination, and 80% presented with

  5. Environment-driven responses in progressive supranuclear palsy.

    Science.gov (United States)

    Ghika, J; Tennis, M; Growdon, J; Hoffman, E; Johnson, K

    1995-05-01

    The neurological signs and behaviors that accompany degenerative diseases associated with fronto-striatal dysfunction are incompletely described. We observed several novel environmentally-driven behaviors in seven patients with progressive supranuclear palsy (PSP). All patients had cognitive deficits with greatest impairments on tests of frontal lobe function, and frontal lobe cerebral perfusion was significantly reduced in 4 of the 5 who had single photon emission computed tomography (SPECT) brain scans. Visual grasping, in which a patient's gaze was attracted to an incidental object in the environment such as a TV set or mirror, was preeminent. Once fixed, there was inability to release the gaze and shift to another object. In other instances, removing a table placed in front of a patient or unbuckling of his seat belt would make him stand up, which was impossible on command. Similarly, playing music would induce rhythmic foot beating, which was never obtained on command. There were compulsive utilization behaviors, such as repetitively picking up and replacing the telephone for no apparent reason. As expected, there were signs of heightened facial reflexes, grasp reflexes, apraxia of eyelid opening, echolalia and echopraxia. We postulate that these stimuli-oriented behaviors stem from parietal lobe disinhibition due to fronto-striatal dysfunction.

  6. Characteristics of Nonmotor Symptoms in Progressive Supranuclear Palsy

    Directory of Open Access Journals (Sweden)

    Ruwei Ou

    2016-01-01

    Full Text Available Objectives. To explore the clinical correlates of nonmotor symptoms (NMS in progressive supranuclear palsy (PSP and their differences from healthy controls and patients with Parkinson’s disease (PD. Methods. Twenty-seven PSP patients, 27 age- and gender-matched healthy controls (HC, and 27 age- and gender-matched PD patients were included for this case-control study. NMS were assessed using the Nonmotor Symptoms Scale (NMSS, including 9 domains. Results. All PSP patients reported NMS. The frequency and severity of “sleep/fatigue,” “mood/apathy,” “attention/memory,” “gastrointestinal,” “sexual dysfunction,” and “miscellaneous” domains in PSP group were significantly higher than those in HC group (P<0.05. The frequency of “mood/apathy,” “attention/memory,” and “sexual dysfunction” domains and the severity of “attention/memory” and “gastrointestinal” domains in PSP group were significantly higher than those in PD group (P<0.05. The “attention/memory” domain in PSP had a significant but weak-to-moderate correlation with age (R=0.387, P=0.046 and onset age (R=0.406, P=0.036. Conclusions. NMS are common in PSP patients. Patients with PSP seem to be subjected to more frequent and severe specific NMS compared to healthy aging subjects and PD patients. Older PSP patients and late-onset patients are likely to be subjected to cognitive decline.

  7. 18F-AV-1451 positron emission tomography in Alzheimer's disease and progressive supranuclear palsy.

    Science.gov (United States)

    Passamonti, Luca; Vázquez Rodríguez, Patricia; Hong, Young T; Allinson, Kieren S J; Williamson, David; Borchert, Robin J; Sami, Saber; Cope, Thomas E; Bevan-Jones, W Richard; Jones, P Simon; Arnold, Robert; Surendranathan, Ajenthan; Mak, Elijah; Su, Li; Fryer, Tim D; Aigbirhio, Franklin I; O'Brien, John T; Rowe, James B

    2017-01-24

    The ability to assess the distribution and extent of tau pathology in Alzheimer's disease and progressive supranuclear palsy in vivo would help to develop biomarkers for these tauopathies and clinical trials of disease-modifying therapies. New radioligands for positron emission tomography have generated considerable interest, and controversy, in their potential as tau biomarkers. We assessed the radiotracer (18)F-AV-1451 with positron emission tomography imaging to compare the distribution and intensity of tau pathology in 15 patients with Alzheimer's pathology (including amyloid-positive mild cognitive impairment), 19 patients with progressive supranuclear palsy, and 13 age- and sex-matched controls. Regional analysis of variance and a support vector machine were used to compare and discriminate the clinical groups, respectively. We also examined the (18)F-AV-1451 autoradiographic binding in post mortem tissue from patients with Alzheimer's disease, progressive supranuclear palsy, and a control case to assess the (18)F-AV-1451 binding specificity to Alzheimer's and non-Alzheimer's tau pathology. There was increased (18)F-AV-1451 binding in multiple regions in living patients with Alzheimer's disease and progressive supranuclear palsy relative to controls [main effect of group, F(2,41) = 17.5, P Alzheimer's disease, relative to patients with progressive supranuclear palsy and with control subjects, in the hippocampus and in occipital, parietal, temporal, and frontal cortices (t's > 2.2, P's Alzheimer's disease, (18)F-AV-1451 binding was elevated in the midbrain (t = 2.1, P 2.7, P's Alzheimer's disease and to distinguish it from other tauopathies with distinct clinical and pathological characteristics such as progressive supranuclear palsy.

  8. Rehabilitation in progressive supranuclear palsy: Effectiveness of two multidisciplinary treatments

    Science.gov (United States)

    Clerici, Ilaria; Ferrazzoli, Davide; Maestri, Roberto; Bossio, Fabiola; Zivi, Ilaria; Canesi, Margherita; Pezzoli, Gianni; Frazzitta, Giuseppe

    2017-01-01

    Background to date, there are no medical or surgical treatments for progressive supranuclear palsy (PSP). It is possible to speculate that patients with PSP could benefit from rehabilitative treatments designed for Parkinson’s disease, including the use of robot-assisted walking training. Objective to evaluate whether the use of the robotic device Lokomat® is superior in PSP patients to the use of treadmill with visual cues and auditory feedbacks (treadmill-plus) in the context of an aerobic, multidisciplinary, intensive, motor-cognitive and goal-based rehabilitation treatment (MIRT) conceived for Parkinsonian patients. Methods we enrolled twenty-four PSP patients. Twelve subjects underwent a 4-week MIRT exploiting the use of the treadmill-plus (MIRT group). Twelve subjects underwent the same treatment, but replacing the treadmill-plus with Lokomat® (MIRT-Lokomat group). Subjects were evaluated with clinical and functional scales at admission and discharge. The primary outcomes were the total PSP Rating Scale (PSPRS) score and its “limb” and “gait” sub-scores. Secondary outcomes were Berg Balance Scale (BBS), Six Minutes Walking test (6MWT) and the number of falls. Results total PSPRS, PSPRS-gait sub-score, BBS, 6MWT and number of falls improved significantly in both groups (p ≤ 0.003 all, except 6MWT, p = 0.032 and p = 0.018 in MIRT-Lokomat and MIRT group respectively). The PSPRS-limb sub-score improved significantly only in the MIRT group (p = 0.002). A significant difference between groups was observed only for total PSPRS, indicating a slightly better improvement for patients in the MIRT group (p = 0.047). No differences between groups were revealed for the other outcomes, indicating that the effect of rehabilitation was similar in both groups. Conclusions Lokomat® training, in comparison with treadmill-plus training, does not provide further benefits in PSP patients undergoing MIRT. Our findings suggest the usefulness of an aerobic

  9. Horizontal Gaze Palsy and Progressive Scoliosis With ROBO 3 Mutations in Patients From Cape Verde.

    Science.gov (United States)

    Mendes Marques, Nadine B P S; Barros, Sandra R; Miranda, Ana F; Nobre Cardoso, João; Parreira, Sónia; Fonseca, Teresa; Donaire, Nelvia M; Campos, Nuno

    2016-10-03

    Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare and autosomal recessive syndrome. We describe 2 cases of HGPPS which are the first documented in patients of African ancestry from an isolated population in Cape Verde. They demonstrated typical findings on neuro-ophthalmic examination and brain magnetic resonance imaging. One patient had novel heterozymous mutations of the ROB0 3 gene.

  10. Raven's Coloured Progressive Matrices as a Measure of Cognitive Functioning in Cerebral Palsy

    Science.gov (United States)

    Pueyo, R.; Junque, C.; Vendrell, P.; Narberhaus, A.; Segarra, D.

    2008-01-01

    Background: Cognitive dysfunction is frequent in Cerebral Palsy (CP). CP motor impairment and associated speech deficits often hinder cognitive assessment, with the result being that not all CP studies consider cognitive dysfunction. Raven's Coloured Progressive Matrices is a simple, rapid test which can be used in persons with severe motor…

  11. Accuracy of MR markers for differentiating Progressive Supranuclear Palsy from Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Stefano Zanigni

    2016-01-01

    Conclusion: Although several quantitative brain MR markers provided high diagnostic accuracy in differentiating Progressive Supranuclear Palsy-Richardson's Syndrome from Parkinson's disease, the morphometric assessment of midbrain area is the best single diagnostic marker and should be routinely included in the neuroradiological work-up of parkinsonian patients.

  12. Direct comparison between regional cerebral metabolism in progressive supranuclear palsy and Parkinson's disease

    NARCIS (Netherlands)

    Klein, RC; de Jong, BM; de Vries, JJ; Leenders, KL

    2005-01-01

    The differentiation between progressive supranuclear palsy (PSP) and Parkinson's disease (PD) may be difficult, especially in the early stages of disease. Positron emission tomography potentially provides a tool for making such a distinction. To identify key features in the spatial distributions of

  13. Levodopa-Induced Facial Dystonia in a Case of Progressive Supranuclear Palsy

    Directory of Open Access Journals (Sweden)

    Eun Joo Chung

    2012-05-01

    Full Text Available Progressive supranuclear palsy (PSP is frequently misdiagnosed as other Parkinsonism because of clinical heterogeneity of PSP. We present here a case of a 67-year-old male patient with frontotemporal dementia-like cognitive impairment including language difficulties and abnormal behaviors. He showed severe facial dystonia after the levodopa treatment. Herein, we describe an unusual case of a patient presenting with PSP which, we believe could contribute to our knowledge about atypical leveodopa-induced facial dystonia in PSP.

  14. Tideglusib reduces progression of brain atrophy in progressive supranuclear palsy in a randomized trial.

    Science.gov (United States)

    Höglinger, Günter U; Huppertz, Hans-Jürgen; Wagenpfeil, Stefan; Andrés, María V; Belloch, Vincente; León, Teresa; Del Ser, Teodoro

    2014-04-01

    It is believed that glycogen synthase kinase-3 hyperphosphorylates tau protein in progressive supranuclear palsy (PSP). The Tau Restoration on PSP (TAUROS) trial assessed the glycogen synthase kinase-3 inhibitor tideglusib as potential treatment. For the magnetic resonance imaging (MRI) substudy reported here, we assessed the progression of brain atrophy. TAUROS was a multinational, phase 2, double-blind, placebo-controlled trial in patients with mild-to-moderate PSP who were treated with oral tideglusib (600 mg or 800 mg daily) or with placebo for 1 year. A subset of patients underwent baseline and 52-week MRI. Automated, observer-independent, atlas-based, and mask-based volumetry was done on high-resolution, T1-weighted, three-dimensional data. For primary outcomes, progression of atrophy was compared both globally (brain, cerebrum) and regionally (third ventricle, midbrain, pons) between the active and placebo groups (Bonferroni correction). For secondary outcomes, 15 additional brain structures were explored (Benjamini & Yekutieli correction). In total, MRIs from 37 patient were studied (placebo group, N = 9; tideglusib 600 mg group, N = 19; tideglusib 800 mg group, N = 9). The groups compared well in their demographic characteristics. Clinical results showed no effect of tideglusib over placebo. Progression of atrophy was significantly lower in the active group than in the placebo group for the brain (mean ± standard error of the mean: -1.3% ± 1.4% vs. -3.1% ± 2.3%, respectively), cerebrum (-1.3% ± 1.5% vs. -3.2% ± 2.1%, respectively), parietal lobe (-1.6% ± 1.9% vs. -4.1% ± 3.0%, respectively), and occipital lobe (-0.3% ± 1.8% vs. -2.7% ± 3.2%, respectively). A trend toward reduced atrophy also was observed in the frontal lobe, hippocampus, caudate nucleus, midbrain, and brainstem. In patients with PSP, tideglusib reduced the progression of atrophy in the whole brain, particularly in the parietal and occipital lobes.

  15. Parkinson disease and progressive supranuclear palsy: protein expression in skin

    OpenAIRE

    2016-01-01

    Abstract Objective This study characterizes the expression of tau (p‐tau) and α‐synuclein (α‐syn) by immunohistochemistry in the skin of three different populations: healthy control (HC), Parkinson disease (PD), and progressive supranuclear paralysis (PSP) subjects, with the purpose of finding a biomarker that could differentiate between subjects with PD and PSP. Material and Methods We evaluated the presence of p‐tau and α‐syn in a pilot study in the skin of three distinct groups of patients...

  16. Executive Dysfunction Is the Primary Cognitive Impairment in Progressive Supranuclear Palsy

    Science.gov (United States)

    Gerstenecker, Adam; Mast, Benjamin; Duff, Kevin; Ferman, Tanis J.; Litvan, Irene

    2013-01-01

    Cognitive difficulties appear to be a more prevalent clinical feature in progressive supranuclear palsy (PSP) than previously thought, and significant cognitive impairment is prevalent in a majority of patients PSP patients not considered clinically demented. The neurocognitive performance of 200 patients with PSP across multiple sites was examined with a variety of commonly used neuropsychological tests. Results indicate primary executive dysfunction (e.g., 74% impaired on the Frontal Assessment Battery, 55% impaired on Initiation/Perseveration subscale of the Dementia Rating Scale), with milder difficulties in memory, construction, and naming. These results have important clinical implications for providers following patients with PSP. PMID:23127882

  17. Cerebral hypometabolism in progressive supranuclear palsy studied with positron emission tomography

    Energy Technology Data Exchange (ETDEWEB)

    Foster, N.L.; Gilman, S.; Berent, S.; Morin, E.M.; Brown, M.B.; Koeppe, R.A.

    1988-09-01

    Progressive supranuclear palsy (PSP) is characterized by supranuclear palsy of gaze, axial dystonia, bradykinesia, rigidity, and a progressive dementia. Pathological changes in this disorder are generally restricted to subcortical structures, yet the type and range of cognitive deficits suggest the involvement of many cerebral regions. We examined the extent of functional impairment to cerebral cortical and subcortical structures as measured by the level of glucose metabolic activity at rest. Fourteen patients with PSP were compared to 21 normal volunteers of similar age using 18F-2-fluoro-2-deoxy-D-glucose and positron emission tomography. Glucose metabolism was reduced in the caudate nucleus, putamen, thalamus, pons, and cerebral cortex, but not in the cerebellum in the patients with PSP as compared to the normal subjects. Analysis of individual brain regions revealed significant declines in cerebral glucose utilization in most regions throughout the cerebral cortex, particularly those in the superior half of the frontal lobe. Declines in the most affected regions of cerebral cortex were greater than those in any single subcortical structure. Although using conventional neuropathological techniques the cerebral cortex appears to be unaffected in PSP, significant and pervasive functional impairments in both cortical and subcortical structures are present. These observations help to account for the constellation of cognitive symptoms in individual patients with PSP and the difficulty encountered in identifying a characteristic psychometric profile for this group of patients.

  18. Improvement of balance after audio-biofeedback A 6-week intervention study in patients with progressive supranuclear palsy

    NARCIS (Netherlands)

    Nicolai, S.; Mirelman, A.; Herman, T.; Zijlstra, A.; Mancini, M.; Becker, C.; Lindeman, U.; Berg, D.; Maetzler, W.

    2010-01-01

    Progressive supranuclear palsy (PSP) is a neurodegenerative disease with no sufficient treatment options to date. The most devastating symptom is the loss of balance with consecutive falls Based on the observation that postural control improved in patients with vestibular dysfunction after audio-bio

  19. Risk factors for emergence and progression of scoliosis in children with severe cerebral palsy : a systematic review

    NARCIS (Netherlands)

    Loeters, Marianne J. B.; Maathuis, Carel G. B.; Hadders-Algra, Mijna

    2010-01-01

    Aim Scoliosis is a frequently occurring and serious complication of severe cerebral palsy (CP). This systematic review aims to the assess the risk factors associated with the emergence and progression of scoliosis in children with CP functioning at level IV or V of the Gross Motor Function Classific

  20. 18F-AV-1451 positron emission tomography in Alzheimer’s disease and progressive supranuclear palsy

    Science.gov (United States)

    Vázquez Rodríguez, Patricia; Hong, Young T.; Allinson, Kieren S. J.; Williamson, David; Borchert, Robin J.; Sami, Saber; Cope, Thomas E.; Bevan-Jones, W. Richard; Jones, P. Simon; Arnold, Robert; Surendranathan, Ajenthan; Mak, Elijah; Su, Li; Fryer, Tim D.; Aigbirhio, Franklin I.; O’Brien, John T.; Rowe, James B.

    2017-01-01

    Abstract The ability to assess the distribution and extent of tau pathology in Alzheimer’s disease and progressive supranuclear palsy in vivo would help to develop biomarkers for these tauopathies and clinical trials of disease-modifying therapies. New radioligands for positron emission tomography have generated considerable interest, and controversy, in their potential as tau biomarkers. We assessed the radiotracer 18F-AV-1451 with positron emission tomography imaging to compare the distribution and intensity of tau pathology in 15 patients with Alzheimer’s pathology (including amyloid-positive mild cognitive impairment), 19 patients with progressive supranuclear palsy, and 13 age- and sex-matched controls. Regional analysis of variance and a support vector machine were used to compare and discriminate the clinical groups, respectively. We also examined the 18F-AV-1451 autoradiographic binding in post-mortem tissue from patients with Alzheimer’s disease, progressive supranuclear palsy, and a control case to assess the 18F-AV-1451 binding specificity to Alzheimer’s and non-Alzheimer’s tau pathology. There was increased 18F-AV-1451 binding in multiple regions in living patients with Alzheimer’s disease and progressive supranuclear palsy relative to controls [main effect of group, F(2,41) = 17.5, P 2.2, P’s 2.7, P’s < 0.02). The support vector machine assigned patients’ diagnoses with 94% accuracy. The post-mortem autoradiographic data showed that 18F-AV-1451 strongly bound to Alzheimer-related tau pathology, but less specifically in progressive supranuclear palsy. 18F-AV-1451 binding to the basal ganglia was strong in all groups in vivo. Postmortem histochemical staining showed absence of neuromelanin-containing cells in the basal ganglia, indicating that off-target binding to neuromelanin is an insufficient explanation of 18F-AV-1451 positron emission tomography data in vivo, at least in the basal ganglia. Overall, we confirm the potential of 18F

  1. FTLD-TDP and progressive supranuclear palsy in comorbidity-a report of two cases with different clinical presentations.

    Science.gov (United States)

    Storey, Kateřina; Johanidesová, Silvie; Matěj, Radoslav; Keller, Jiří; Rohan, Zdeněk; Rusina, Robert

    2016-12-03

    Frontotemporal lobar degeneration with transactive response DNA-binding protein 43 (FTLD-TDP) and progressive supranuclear palsy (PSP) are distinct neurodegenerations with different clinical presentations. We report two cases with FTLD-TDP and PSP in comorbidity: a patient with amnestic dementia developing frontal lobe dementia, Parkinsonism and supranuclear gaze palsy and a patient with cerebellar ataxia and nystagmus developing akinesia, rigidity, and subcortical dementia. Neuropathological examination revealed neuronal and glial tau pathology together with ubiquitin, and phospho-TDP-43-immunoreactivities in the hippocampus, striatum, mesencephalon, and frontal and temporal cortices. Clinical and neuropathological correlations in atypical neurodegenerations are crucial to describe new entities of overlapping syndromes.

  2. Different decision deficits impair response inhibition in progressive supranuclear palsy and Parkinson's disease.

    Science.gov (United States)

    Zhang, Jiaxiang; Rittman, Timothy; Nombela, Cristina; Fois, Alessandro; Coyle-Gilchrist, Ian; Barker, Roger A; Hughes, Laura E; Rowe, James B

    2016-01-01

    Progressive supranuclear palsy and Parkinson's disease have distinct underlying neuropathology, but both diseases affect cognitive function in addition to causing a movement disorder. They impair response inhibition and may lead to impulsivity, which can occur even in the presence of profound akinesia and rigidity. The current study examined the mechanisms of cognitive impairments underlying disinhibition, using horizontal saccadic latencies that obviate the impact of limb slowness on executing response decisions. Nineteen patients with clinically diagnosed progressive supranuclear palsy (Richardson's syndrome), 24 patients with clinically diagnosed Parkinson's disease and 26 healthy control subjects completed a saccadic Go/No-Go task with a head-mounted infrared saccadometer. Participants were cued on each trial to make a pro-saccade to a horizontal target or withhold their responses. Both patient groups had impaired behavioural performance, with more commission errors than controls. Mean saccadic latencies were similar between all three groups. We analysed behavioural responses as a binary decision between Go and No-Go choices. By using Bayesian parameter estimation, we fitted a hierarchical drift-diffusion model to individual participants' single trial data. The model decomposes saccadic latencies into parameters for the decision process: decision boundary, drift rate of accumulation, decision bias, and non-decision time. In a leave-one-out three-way classification analysis, the model parameters provided better discrimination between patients and controls than raw behavioural measures. Furthermore, the model revealed disease-specific deficits in the Go/No-Go decision process. Both patient groups had slower drift rate of accumulation, and shorter non-decision time than controls. But patients with progressive supranuclear palsy were strongly biased towards a pro-saccade decision boundary compared to Parkinson's patients and controls. This indicates a prepotency of

  3. Cerebral blood flow, oxygen and glucose metabolism with PET in progressive supranuclear palsy

    Energy Technology Data Exchange (ETDEWEB)

    Otsuka, Makoto; Ichiya, Yuici; Kuwabara, Yasuo (Kyushu Univ., Fukuoka (Japan). Faculty of Medicine) (and others)

    1989-11-01

    Cerebral blood flow, cerebral oxygen metabolic rate and cerebral glucose metabolic rate were measured with positron emission tomography (PET) in four patients with progressive supranuclear palsy (PSP). Decreased blood flow and hypometabolism of oxygen and glucose were found in both subcortical and cortical regions, particularly in the striatum including the head of the caudate nucleus and the frontal cortex. The coupling between blood flow and metabolism was preserved even in the regions which showed decreased blood flow and hypometabolism. These findings indicated the hypofunction, as revealed by decreased blood flow and hypometablolism on PET, both in the striatum and the frontal cortex, and which may underlie the pathophysiological mechanism of motor and mental disturbance in PSP. (author).

  4. Progression of Hip Displacement during Radiographic Surveillance in Patients with Cerebral Palsy.

    Science.gov (United States)

    Park, Jae Young; Choi, Young; Cho, Byung Chae; Moon, Sang Young; Chung, Chin Youb; Lee, Kyoung Min; Sung, Ki Hyuk; Kwon, Soon-Sun; Park, Moon Seok

    2016-07-01

    Progression of hip displacement is common in patients with cerebral palsy (CP). We aimed to investigate the rate of progression of hip displacement in patients with CP by assessing changes in radiographic indices according to Gross Motor Function Classification System (GMFCS) level during hip surveillance. We analyzed the medical records of patients with CP aged GMFCS level, annual changes in radiographic indices were analyzed and adjusted for affecting factors, such as sex, laterality, and type of CP. A total of 197 patients were included in this study, and 1,097 radiographs were evaluated. GMFCS classifications were as follows: 100 patients were level I-III, 48 were level IV, and 49 were level V. MP increased significantly over the duration of hip surveillance in patients with GMFCS levels I-III, IV, and V by 0.3%/year (P GMFCS level IV, NSA increased significantly by 3.4°/year (P GMFCS level IV or V. Furthermore, physicians can predict and inform parents or caregivers regarding the progression of hip displacement in patients with CP.

  5. PROSPERA: a randomized, controlled trial evaluating rasagiline in progressive supranuclear palsy.

    Science.gov (United States)

    Nuebling, Georg; Hensler, Mira; Paul, Sabine; Zwergal, Andreas; Crispin, Alexander; Lorenzl, Stefan

    2016-08-01

    To date, pharmacological treatment options for progressive supranuclear palsy (PSP), a neurodegenerative tauopathy, are limited. The MAO-B inhibitor rasagiline has shown neuroprotective effects in preclinical models of neurodegeneration. To evaluate the safety, tolerability and therapeutic effect of rasagiline on symptom progression in PSP. In this 1-year randomized, double-blind, placebo-controlled trial, 44 patients fulfilling the NINDS-PSP criteria were randomized to 1 mg/d rasagiline or placebo. The combined primary endpoint included symptom progression as measured by the PSP rating scale (PSP-RS) and the requirement of L-dopa rescue medication. Secondary endpoints included Schwab and England Activities of Daily Living (SEADL), Montgomery-Åsberg Depression Rating Scale, Mini Mental State Examination, Frontal Assessment Battery and posturographic measurements. Of the 44 patients randomized, 26 completed the trial per protocol. Rasagiline was well tolerated, with a slight increase of known side effects (hallucinations, ventricular extrasystoles). No effect on the primary endpoint (p = 0.496) was detected. Symptom progression averaged at 11.2 (rasagiline) and 10.8 (placebo) points per year (ΔPSP-RS). No difference was seen in SEADL, depression, cognitive function, frontal executive function and posturographic measurements. Post hoc analyses of PSP-RS subdomains indicate a potential beneficial effect in the "limb motor" subdomain, whereas performance appeared lower in the "mentation" and "history" subdomains in the treatment group. While rasagiline is well tolerated in PSP, a beneficial effect on overall symptom progression was not detected. Post hoc analyses suggest the implementation of more specific endpoints in future studies.

  6. Trial of Zolpidem, Eszopiclone, and Other GABA Agonists in a Patient with Progressive Supranuclear Palsy

    Directory of Open Access Journals (Sweden)

    Andrew Young Chang

    2014-01-01

    Full Text Available Progressive supranuclear palsy (PSP is a progressive, debilitating neurodegenerative disease of the Parkinson-plus family of syndromes. Unfortunately, there are no pharmacologic treatments for this condition, as most sufferers of the classic variant respond poorly to Parkinson medications such as levodopa. Zolpidem, a gamma aminobutyric acid (GABA agonist specific to the α-1 receptor subtype, has been reported to show improvements in symptoms of PSP patients, including motor dysfunction, dysarthria, and ocular disturbances. We observed a 73-year-old woman with a six-year history of PSP, who, upon administration of a single 12.5 mg dose of sustained-release zolpidem, exhibited marked enhancements in speech, facial expressions, and fine motor skills for five hours. These results were reproduced upon subsequent clinic visits. In an effort to find a sustainable medication that maximized these beneficial effects while minimizing side effects and addressing some of her comorbid neuropsychological conditions, a trial of five other GABA receptor agonists was performed with the patient’s consent, while she and her caregivers were blinded to the specific medications. She and her caretakers subsequently reported improvements, especially visual, while on eszopiclone, and, to a lesser degree, temazepam and flurazepam.

  7. Genetics Home Reference: spinal and bulbar muscular atrophy

    Science.gov (United States)

    ... Kennedy spinal and bulbar muscular atrophy Kennedy's disease SBMA X-linked spinal and bulbar muscular atrophy Related ... Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients. Brain. 2006 ...

  8. Progression of Hip Displacement during Radiographic Surveillance in Patients with Cerebral Palsy

    Science.gov (United States)

    2016-01-01

    Progression of hip displacement is common in patients with cerebral palsy (CP). We aimed to investigate the rate of progression of hip displacement in patients with CP by assessing changes in radiographic indices according to Gross Motor Function Classification System (GMFCS) level during hip surveillance. We analyzed the medical records of patients with CP aged < 20 years who underwent at least 6 months interval of serial hip radiographs before any surgical hip intervention, including reconstructive surgery. After panel consensus and reliability testing, radiographic measurements of migration percentage (MP), neck-shaft angle (NSA), acetabular index (AI), and pelvic obliquity (PO) were obtained during hip surveillance. For each GMFCS level, annual changes in radiographic indices were analyzed and adjusted for affecting factors, such as sex, laterality, and type of CP. A total of 197 patients were included in this study, and 1,097 radiographs were evaluated. GMFCS classifications were as follows: 100 patients were level I-III, 48 were level IV, and 49 were level V. MP increased significantly over the duration of hip surveillance in patients with GMFCS levels I-III, IV, and V by 0.3%/year (P < 0.001), 1.9%/year (P < 0.001), and 6.2%/year (P < 0.001), respectively. In patients with GMFCS level IV, NSA increased significantly by 3.4°/year (P < 0.001). Our results suggest that periodic monitoring and radiographic hip surveillance is warranted for patients with CP, especially those with GMFCS level IV or V. Furthermore, physicians can predict and inform parents or caregivers regarding the progression of hip displacement in patients with CP. PMID:27366015

  9. Clinical value of MRI and acute madopar responsiveness test in diagnosing progressive supranuclear palsy

    Directory of Open Access Journals (Sweden)

    LI Xiao-hong

    2013-07-01

    Full Text Available Objective To investigate the MRI abnormalities and acute madopar responsiveness test in diagnosing progressive supranuclear palsy (PSP and Parkinson's disease (PD. Methods Seventeen patients with PSP and 17 gender and age matched patients with PD were studied with cranial MRI examinations and results of acute madopar responsiveness test, and the clinical manifestations of PSP were summarized. Results The atrophy of the midbrain tegmentum and hummingbird sign was demonstrated in all of the PSP patients in our study, but was not observed in the PD patients. The areas of the midbrain on mid-sagittal MRI in PSP patients [(77.35 ± 15.30 mm2] were significantly smaller than that in those with PD [(142.35 ± 31.49 mm2]. The average ratio of the area of the midbrain to the area of pons in the patients with PSP [(14.31 ± 2.47%] was significantly smaller than that in those with PD [(24.08 ± 4.73%; P = 0.000, for all]. According to the result of acute madopar responsiveness test, the maximum Unified Parkinson's Disease Rating Scale (UPDRS Ⅲ improvement rate of 2 patients with PSP and 16 patients with PD was more than 30% (χ2 = 23.142, P = 0.000. Conclusion The assessment of the mid-sagittal MRI and acute madopar responsiveness test may be a useful method to differentiate PSP from PD.

  10. MIDBRAIN CATECHOLAMINERGIC NEURONS CO-EXPRESS α-SYNUCLEIN AND TAU IN PROGRESSIVE SUPRANUCLEAR PALSY

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    María Elena eErro Aguirre

    2015-03-01

    Full Text Available Objective: To analyze the frequency and distribution of α-synuclein deposits in progressive supranuclear palsy (PSP.Methods: The brains of 25 cases of pathologically confirmed PSP were evaluated with immunohistochemistry for α-synuclein and tau. Multiple immunofluorescent stains were applied to analyze the expression of tau and α-synuclein aggregates in catecholaminergic neurons. Patients’ clinical symptoms were retrospectively recorded. Results: Deposits α-synuclein in the form of typical Lewy bodies (LBs were only found in two PSP cases (8% that fulfilled the clinical subtype of PSP known as Richardson’s syndrome (RS. LBs were present in the locus ceruleus, substantia nigra pars compacta, basal forebrain, amygdala and cingulated cortex in a distribution mimicking that of Parkinson’s disease. Triple-immunolabeling revealed co-expression of α-synuclein and tau proteins in some tyrosine hydroxilase-positive neurons of the locus ceruleus and substantia nigra pars compacta.Conclusions: There is no apparent clinical correlation between the presence of LBs in PSP. Tau protein co-aggregate with α-synuclein in catecholaminergic neurons of PSP brains suggesting a synergistic interaction between the two proteins. This is in keeping with the current view of neurodegenerative disorders as ‘misfolded protein diseases’.

  11. Distinct patterns of brain activity in progressive supranuclear palsy and Parkinson's disease.

    Science.gov (United States)

    Burciu, Roxana G; Ofori, Edward; Shukla, Priyank; Planetta, Peggy J; Snyder, Amy F; Li, Hong; Hass, Chris J; Okun, Michael S; McFarland, Nikolaus R; Vaillancourt, David E

    2015-08-01

    The basal ganglia-thalamo-cortical and cerebello-thalamo-cortical circuits are important for motor control. Whether their functioning is affected in a similar or different way by progressive supranuclear palsy (PSP) and Parkinson's disease (PD) is not clear. A functional magnetic resonance imaging (fMRI) force production paradigm and voxel-based morphometry were used to assess differences in brain activity and macrostructural volumes between PSP, PD, and healthy age-matched controls. We found that PSP and PD share reduced functional activity of the basal ganglia and cortical motor areas, but this is more pronounced in PSP than in PD. In PSP the frontal regions are underactive, whereas the posterior parietal and occipital regions are overactive as compared with controls and PD. Furthermore, lobules I through IV, V, and VI of the cerebellum are hypoactive in PSP and PD, whereas Crus I and lobule IX are hyperactive in PSP only. Reductions in gray and white matter volume are specific to PSP. Finally, the functional status of the caudate as well as the volume of the superior frontal gyrus predict clinical gait and posture measures in PSP. PSP and PD share hypoactivity of the basal ganglia, motor cortex, and anterior cerebellum. These patients also display a unique pattern, such that anterior regions of the cortex are hypoactive and posterior regions of the cortex and cerebellum are hyperactive. Together, these findings suggest that specific structures within the basal ganglia, cortex, and cerebellum are affected differently in PSP relative to PD.

  12. Sad and happy facial emotion recognition impairment in progressive supranuclear palsy in comparison with Parkinson's disease.

    Science.gov (United States)

    Pontieri, Francesco E; Assogna, Francesca; Stefani, Alessandro; Pierantozzi, Mariangela; Meco, Giuseppe; Benincasa, Dario; Colosimo, Carlo; Caltagirone, Carlo; Spalletta, Gianfranco

    2012-08-01

    The severity of motor and non-motor symptoms of progressive supranuclear palsy (PSP) has a profound impact on social interactions of affected individuals and may, consequently, contribute to alter emotion recognition. Here we investigated facial emotion recognition impairment in PSP with respect to Parkinson's disease (PD), with the primary aim of outlining the differences between the two disorders. Moreover, we applied an intensity-dependent paradigm to examine the different threshold of encoding emotional faces in PSP and PD. The Penn emotion recognition test (PERT) was used to assess facial emotion recognition ability in PSP and PD patients. The 2 groups were matched for age, disease duration, global cognition, depression, anxiety, and daily L-Dopa intake. PSP patients displayed significantly lower recognition of sad and happy emotional faces with respect to PD ones. This applied to global recognition, as well as to low-intensity and high-intensity facial emotion recognition. These results indicate specific impairment of recognition of sad and happy facial emotions in PSP with respect to PD patients. The differences may depend upon diverse involvement of cortical-subcortical loops integrating emotional states and cognition between the two conditions, and might represent a neuropsychological correlate of the apathetic syndrome frequently encountered in PSP.

  13. Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy

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    Kouri, Naomi; Ross, Owen A.; Dombroski, Beth; Younkin, Curtis S.; Serie, Daniel J.; Soto-Ortolaza, Alexandra; Baker, Matthew; Finch, Ni Cole A.; Yoon, Hyejin; Kim, Jungsu; Fujioka, Shinsuke; McLean, Catriona A.; Ghetti, Bernardino; Spina, Salvatore; Cantwell, Laura B.; Farlow, Martin R.; Grafman, Jordan; Huey, Edward D.; Ryung Han, Mi; Beecher, Sherry; Geller, Evan T.; Kretzschmar, Hans A.; Roeber, Sigrun; Gearing, Marla; Juncos, Jorge L.; Vonsattel, Jean Paul G.; Van Deerlin, Vivianna M.; Grossman, Murray; Hurtig, Howard I.; Gross, Rachel G.; Arnold, Steven E.; Trojanowski, John Q.; Lee, Virginia M.; Wenning, Gregor K.; White, Charles L.; Höglinger, Günter U.; Müller, Ulrich; Devlin, Bernie; Golbe, Lawrence I.; Crook, Julia; Parisi, Joseph E.; Boeve, Bradley F.; Josephs, Keith A.; Wszolek, Zbigniew K.; Uitti, Ryan J.; Graff-Radford, Neill R.; Litvan, Irene; Younkin, Steven G.; Wang, Li-San; Ertekin-Taner, Nilüfer; Rademakers, Rosa; Hakonarsen, Hakon; Schellenberg, Gerard D.; Dickson, Dennis W.

    2015-01-01

    Corticobasal degeneration (CBD) is a neurodegenerative disorder affecting movement and cognition, definitively diagnosed only at autopsy. Here, we conduct a genome-wide association study (GWAS) in CBD cases (n=152) and 3,311 controls, and 67 CBD cases and 439 controls in a replication stage. Associations with meta-analysis were 17q21 at MAPT (P=1.42 × 10−12), 8p12 at lnc-KIF13B-1, a long non-coding RNA (rs643472; P=3.41 × 10−8), and 2p22 at SOS1 (rs963731; P=1.76 × 10−7). Testing for association of CBD with top progressive supranuclear palsy (PSP) GWAS single-nucleotide polymorphisms (SNPs) identified associations at MOBP (3p22; rs1768208; P=2.07 × 10−7) and MAPT H1c (17q21; rs242557; P=7.91 × 10−6). We previously reported SNP/transcript level associations with rs8070723/MAPT, rs242557/MAPT, and rs1768208/MOBP and herein identified association with rs963731/SOS1. We identify new CBD susceptibility loci and show that CBD and PSP share a genetic risk factor other than MAPT at 3p22 MOBP (myelin-associated oligodendrocyte basic protein). PMID:26077951

  14. Brain Dopamine Transporter Binding and Glucose Metabolism in Progressive Supranuclear Palsy-Like Creutzfeldt-Jakob Disease

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    Eero Rissanen

    2014-01-01

    Full Text Available Here, we present a patient with Creutzfeldt-Jakob disease (CJD who developed initial symptoms mimicking progressive supranuclear palsy (PSP. Before the development of typical CJD symptoms, functional imaging supported a diagnosis of PSP when [123I]-FP-CIT-SPECT showed a defect in striatal dopamine transporter binding, while [18F]-fluorodeoxyglucose PET showed cortical hypometabolism suggestive of Lewy body dementia. However, the postmortem neuropathological examination was indicative of CJD only, without tau protein or Lewy body findings. This case demonstrates that CJD should be taken into account in rapidly progressing atypical cases of parkinsonism, even when functional imaging supports a diagnosis of a movement disorder.

  15. Effects of Robot Assisted Gait Training in Progressive Supranuclear Palsy (PSP: a preliminary report.

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    Patrizio eSale

    2014-04-01

    Full Text Available Background and Purpose: Progressive supranuclear palsy (PSP is a rare neurodegenerative disease clinically characterized by prominent axial extrapyramidal motor symptoms with frequent falls. Over the last years the introduction of robotic technologies to recover lower limb function has been greatly employed in the rehabilitative practice. This observational trial is aimed at investigating the feasibility, the effectiveness and the efficacy of end-effector robot training in people with PSP.Method: Pilot observational trial.Participants: Five cognitively intact participants with PSP and gait disorders.Interventions: Patients were submitted to a rehabilitative program of robot-assisted walking sessions for 45 minutes, 5 times a week for 4 weeks.Main outcome measures: The spatiotemporal parameters at the beginning (T0 and at the end of treatment (T1 were recorded by a gait analysis laboratory.Results: Robot training was feasible, acceptable and safe and all participants completed the prescribed training sessions. All patients showed an improvement in the gait index (Mean velocity, Cadence, Step length and Step width (T0 versus T1.Conclusions: Robot training is a feasible and safe form of rehabilitation for cognitively intact people with PSP. This innovative approach can contribute to improve lower limb motor recovery. The focus on gait recovery is another quality that makes this research important for clinical practice. On the whole, the simplicity of treatment, the lack of side effects and the positive results in the patients support the recommendation to extend the trials of this treatment. Further investigation regarding the effectiveness of robot training in time is necessary.Trial registration: ClinicalTrials.gov NCT01668407.

  16. Clinical speech impairment in Parkinson′s disease, progressive supranuclear palsy, and multiple system atrophy

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    Sachin S

    2008-01-01

    Full Text Available Context: Speech abnormalities are common to the three Parkinsonian syndromes, namely Parkinson′s disease (PD, progressive supranuclear palsy (PSP and multiple system atrophy (MSA, the nature and severity of which is of clinical interest and diagnostic value. Aim: To evaluate the clinical pattern of speech impairment in patients with PD, PSP and MSA and to identify significant differences on quantitative speech parameters when compared to controls. Design and Setting: Cross-sectional study conducted in a tertiary medical teaching institute. Materials and Methods: Twenty-two patients with PD, 18 patients with PSP and 20 patients with MSA and 10 age-matched healthy controls were recruited over a period of 1.5 years. The patients were clinically evaluated for the presence and characteristics of dysarthria. This was followed by quantitative assessment of three parameters: maximum phonation time (MPT, semantic fluency and reading speed. The outcome measures were compared between the patient groups and with controls. Results: Patients with PD had hypophonic monotonous speech with occasional rushes of speech while patients with MSA and PSP had mixed dysarthria with ataxic and spastic elements respectively. All quantitative parameters were affected when compared to controls ( P values < 0.001, 0.012 and 0.008 respectively. Maximum phonation time was significantly less in PSP when compared to MSA and PD ( P =0.015. Reading speed also showed a similar trend which was not statistically significant. Semantic fluency was comparable in all three groups. Conclusion: Dysarthria in PD, PSP and MSA have many overlapping but certain distinctive features as well which could serve as a diagnostic clue. Patients with PSP had profound speech impairment probably indicative of the more severe frontostriatial pathology.

  17. Functional MRI, DTI and neurophysiology in horizontal gaze palsy with progressive scoliosis

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    Haller, Sven; Wetzel, Stephan G. [University Hospital Basel, Institute of Radiology, Department of Neuroradiology, Basel (Switzerland); Luetschg, Juerg [University Children' s Hospital (UKBB), Basel (Switzerland)

    2008-05-15

    Horizontal gaze palsy with progressive scoliosis (HGPPS) is an autosomal recessive disease due to a mutation in the ROBO3 gene. This rare disease is of particular interest because the absence, or at least reduction, of crossing of the ascending lemniscal and descending corticospinal tracts in the medulla predicts abnormal ipsilateral sensory and motor systems. We evaluated the use of functional magnetic resonance imaging (fMRI) for the first time in this disease and compared it to diffusion tensor imaging (DTI) tractography and neurophysiological findings in the same patient with genetically confirmed ROBO3 mutation. As expected, motor fMRI, somatosensory evoked potentials (SSEP) and motor evoked potentials (MEP) were dominantly ipsilateral to the stimulation side. DTI tractography revealed ipsilateral ascending and descending connectivity in the brainstem yet normal interhemispheric connections in the corpus callosum. Auditory fMRI revealed bilateral auditory activation to monaural left-sided auditory stimulation. No significant cortical activation was observed after monaural right-sided stimulation, a hearing defect having been excluded. Prosaccades fMRI showed no activations in the eye-movement network. Motor fMRI confirmed the established findings of DTI and neurophysiology in the same patient. In suspected HGPPS, any technique appears appropriate for further investigation. Auditory fMRI suggests that a monaural auditory system with bilateral auditory activations might be a physiological advantage as compared to a binaural yet only unilateral auditory system, in analogy to anisometropic amblyopia. Moving-head fMRI studies in the future might show whether the compensatory head movements instead of normal eye movements activate the eye-movement network. (orig.)

  18. The Disturbance of Gaze in Progressive Supranuclear Palsy (PSP: Implications for Pathogenesis

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    Athena L Chen

    2010-12-01

    Full Text Available Progressive supranuclear palsy (PSP is a disease of later life that is currently regarded as a form of neurodegenerative tauopathy. Disturbance of gaze is a cardinal clinical feature of PSP that often helps clinicians to establish the diagnosis. Since the neurobiology of gaze control is now well understood, it is possible to use eye movements as investigational tools to understand aspects of the pathogenesis of PSP. In this review, we summarize each disorder of gaze control that occurs in PSP, drawing on our studies of fifty patients, and on reports from other laboratories that have measured the disturbances of eye movements. When these gaze disorders are approached by considering each functional class of eye movements and its neurobiological basis, a distinct pattern of eye movement deficits emerges that provides insight into the pathogenesis of PSP. Although some aspects of all forms of eye movements are affected in PSP, the predominant defects concern vertical saccades (slow and hypometric, both up and down, impaired vergence, and inability to modulate the linear vestibulo-ocular reflex appropriately for viewing distance. These vertical and vergence eye movements habitually work in concert to enable visuomotor skills that are important during locomotion with the hands free. Taken with the prominent early feature of falls, these findings suggest that PSP tauopathy impairs a recently-evolved neural system concerned with bipedal locomotion in an erect posture and frequent gaze shifts between the distant environment and proximate hands. This approach provides a conceptual framework that can be used to address the nosological challenge posed by overlapping clinical and neuropathological features of neurodegenerative tauopathies.

  19. Whole-brain atrophy differences between progressive supranuclear palsy and idiopathic Parkinson's disease

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    Carlos Guevara

    2016-09-01

    Full Text Available Background: The absence of markers for ante-mortem diagnosis of progressive supranuclear palsy (PSP results in this disorder’s being commonly mistaken for other conditions, such as idiopathic Parkinson's disease (IPD. Such mistakes occur particularly in the initial stages, when ‘plus syndrome’ has not yet clinically emerged.Objective. To investigate global brain volume and tissue loss in patients with PSP relative to patients with IPD and healthy controls and correlations between clinical parameters and magnetic resonance imaging (MRI-derived brain volume estimates.Methods: T1-weighted images were obtained from three groups of Chilean Latin American adults: 21 patients with IPD, 18 patients with PSP and 14 healthy controls. We used Structural Imaging Evaluation with Normalization of Atrophy (SIENAX to assess white matter, gray matter and whole-brain volumes (normalized to cranial volume. Imaging data were used to analyze putative correlations with the clinical status of PSP and IPD patients using the Unified Parkinson’s Disease Rating Scale Part III, Hoehn and Yahr, the Clinical Global Impression for Disease Severity Scale and the Frontal Assessment Battery.Results: PSP patients had significantly lower whole brain volume than both IPD patients and controls. Whole brain volume reduction in PSP patients was primarily attributable to gray matter volume reduction. We found a significant correlation between brain volume reduction and clinical status in the PSP group.Conclusions: At the group level, whole brain and gray matter volumes differentiated patients with PSP from patients with IPD. There was also significant clinical-imaging correlations with motor disturbances in PSP.

  20. Whole-Brain Atrophy Differences between Progressive Supranuclear Palsy and Idiopathic Parkinson’s Disease

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    Guevara, Carlos; Bulatova, Katherina; Barker, Gareth J.; Gonzalez, Guido; Crossley, Nicolas A.; Kempton, Matthew J.

    2016-01-01

    Background: The absence of markers for ante-mortem diagnosis of progressive supranuclear palsy (PSP), results in this disorder being commonly mistaken for other conditions, such as idiopathic Parkinson’s disease (IPD). Such mistakes occur particularly in the initial stages, when “plus syndrome” has not yet clinically emerged. Objective: To investigate the global brain volume and tissue loss in patients with PSP relative to patients with IPD and healthy controls and correlations between clinical parameters and magnetic resonance imaging (MRI)-derived brain volume estimates. Methods: T1-weighted images were obtained from three groups of Chilean Latin American adults: 21 patients with IPD, 18 patients with PSP and 14 healthy controls. We used Structural Imaging Evaluation with Normalization of Atrophy (SIENAX) to assess white matter, gray matter and whole-brain volumes (normalized to cranial volume). Imaging data were used to analyze putative correlations with the clinical status of PSP and IPD patients using the Unified Parkinson’s Disease Rating Scale Part III (UPDRS III), Hoehn and Yahr (H&Y), the Clinical Global Impression for Disease Severity Scale (CGI-S) and the Frontal Assessment Battery (FAB). Results: PSP patients had significantly lower whole brain volume than both IPD patients and controls. Whole brain volume reduction in PSP patients was primarily attributable to gray matter volume reduction. We found a significant correlation between brain volume reduction and clinical status in the PSP group. Conclusions: At the group level, the whole brain and gray matter volumes differentiated patients with PSP from patients with IPD. There was also significant clinical-imaging correlations with motor disturbances in PSP. PMID:27679572

  1. Neuropsychological functions in progressive supranuclear palsy, multiple system atrophy and Parkinson′s disease

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    Krishnan Syam

    2006-01-01

    Full Text Available Background: Few studies have compared cognitive functions in multiple system atrophy (MSA, progressive supranuclear palsy (PSP and Parkinson′s disease (PD. Aim: To compare the results of cognitive function tests in the three diseases and examine their relation with the severity of parkinsonism. Settings and Design: Clinic-based open prospective study. Materials and Methods: Global cognitive function tests and tests specific for frontal lobe functions were used in 25 cases of each disease. UPDRS III was used to measure the severity of parkinsonism. Statistical Analysis: ANOVA was done for group comparisons, followed by t-test for independent samples with Bonferroni correction. Pearson′s correlation test was done to assess the relation between severity of parkinsonism and cognitive functions. Results: The severity of parkinsonism was worst in PD followed by PSP and least in MSA. Patients with PSP exhibited the worst performance in both sets of cognitive tests. Even though patients with MSA did better than PD in global function tests, they performed worse than PD in some frontal function tests. There was a negative correlation between severity of parkinsonism and scores in cognitive tests in the MSA group but not in others. Conclusions: Global and frontal dysfunction was worst in PSP. The frontal dysfunction in MSA was more severe than PD, correlated with the severity of parkinsonism and was worse in clinically probable than possible cases of MSA. The severity of cognitive dysfunction in these diseases may be related to the distribution and extent of pathological changes affecting the striato-frontal circuits in them.

  2. Disease-specific structural changes in thalamus and dentatorubrothalamic tract in progressive supranuclear palsy

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    Surova, Yulia; Hall, Sara; Widner, Haakan [Lund University, Department of Clinical Sciences, Lund (Sweden); Skaane University Hospital, Department of Neurology, Lund (Sweden); Nilsson, Markus [Lund University, Lund University Bioimaging Center, Lund (Sweden); Laett, Jimmy [Skaane University Hospital, Center for Medical Imaging and Physiology, Lund (Sweden); Lampinen, Bjoern [Lund University, Department of Medical Radiation Physics, Lund (Sweden); Lindberg, Olof [Malmoe, Lund University, Department of Clinical Sciences, Malmoe (Sweden); Nilsson, Christer [Skaane University Hospital, Department of Neurology, Lund (Sweden); Malmoe, Lund University, Department of Clinical Sciences, Malmoe (Sweden); Westen, Danielle van [Lund University, Department of Clinical Sciences, Lund (Sweden); Skaane University Hospital, Center for Medical Imaging and Physiology, Lund (Sweden); Hansson, Oskar [Malmoe, Lund University, Department of Clinical Sciences, Malmoe (Sweden); Skaane University Hospital, Memory Clinic, Lund (Sweden)

    2015-11-15

    The aim of this study is to identify disease-specific changes of the thalamus, basal ganglia, pons, and midbrain in patients with progressive supranuclear palsy (PSP), Parkinson's disease (PD), and multiple system atrophy with predominant parkinsonism (MSA-P) using diffusion tensor imaging and volumetric analysis. MRI diffusion and volumetric data were acquired in a derivation of 30 controls and 8 patients with PSP and a validation cohort comprised of controls (n = 21) and patients with PSP (n = 27), PD (n = 10), and MSA-P (n = 11). Analysis was performed using regions of interest (ROI), tract-based spatial statistic (TBSS), and tractography and results compared between diagnostic groups. In the derivation cohort, we observed increased mean diffusivity (MD) in the thalamus, superior cerebellar peduncle, and the midbrain in PSP compared to controls. Furthermore, volumetric analysis showed reduced thalamic volumes in PSP. In the validation cohort, the observations of increased MD were replicated by ROI-based analysis and in the thalamus by TBSS-based analysis. Such differences were not found for patients with PD in any of the cohorts. Tractography of the dentatorubrothalamic tract (DRTT) showed increased MD in PSP patients from both cohorts compared to controls and in the validation cohort in PSP compared to PD and MSA patients. Increased MD in the thalamus and along the DRTT correlated with disease stage and motor function in PSP. Patients with PSP, but not PD or MSA-P, exhibit signs of structural abnormalities in the thalamus and in the DRTT. These changes are associated with disease stage and impaired motor function. (orig.)

  3. Meta-analysis of tau genetic polymorphism and sporadic progressive supranuclear palsy susceptibility

    Institute of Scientific and Technical Information of China (English)

    Hai Yuan; Xiuyan Yang; Hanlin Kang; Ying Cheng; Huiming Ren; Xiaotong Wang

    2011-01-01

    OBJECTIVE: To quantitatively evaluate the association between tau genetic polymorphism (H, and H2) and susceptibility to sporadic progressive supranuclear palsy (PSP).DATA SOURCES: Relevant Medical Subject Heading terms and text words were used to identify articles from MEDLINE (1966/2010 07), EMBASE (1984/2010-07), and Chinese National Knowledge Infrastructure (1979/2010), as well as references of the retrieved articles.STUDY SELECTION: The selected articles met the following criteria: sporadic PSP case group and healthy control group, as well as genotype frequency (H,/H, and H,/H2+H2/H2) in cases and controls.Genotype distribution in the control groups was tested using the Hardy-Weinberg Equilibrium (HWE).Articles irrelevant to HWE were excluded, and a forest plot was performed to combine all selected articles with Review Manager (Version 5.0).MAIN OUTCOME MEASURES: The summary odds ratios and corresponding 95% confidence intervals (95%Cl)for tau polymorphism (H,/H, and H,/H2+H2/H2) between sporadic PSP case and healthy control groups were estimated using the fixed effects model to assess whether tau genetic polymorphism is associated with sporadic PSP susceptibility.RESULTS: According to inclusion and exclusion criteria, a total of 16 articles, which included 1 337 sporadic PSP cases and 2 073 controls, were used in the study.Two articles were excluded because of deviation from HWE in the control groups.The combined result, based on all studies,showed a significant difference in genotype distribution between cases and controls: H,H, vs.H,H2 +H2H2 (odds ratio (OR)=4.98, 95%Cl: 3.97-6.23, P < 0.01).Stratifying for geographic distribution of PSP, sporadic PSP cases exhibited a significantly higher frequency of H,H, genotypes than controls in the United States (OR=4.07, 95%CF.3.16-5.25, P < 0.01) and Europe (OR=8.60,95%C1.5.05-14.64, P < 0.01).CONCLUSION: Tau genetic polymorphism is associated with sporadic PSP susceptibility, and geographic distribution might

  4. Selective defects of visual tracking in progressive supranuclear palsy (PSP): implications for mechanisms of motion vision.

    Science.gov (United States)

    Joshi, Anand C; Riley, David E; Mustari, Michael J; Cohen, Mark L; Leigh, R John

    2010-04-07

    Smooth ocular tracking of a moving visual stimulus comprises a range of responses that encompass the ocular following response (OFR), a pre-attentive, short-latency mechanism, and smooth pursuit, which directs the retinal fovea at the moving stimulus. In order to determine how interdependent these two forms of ocular tracking are, we studied vertical OFR in progressive supranuclear palsy (PSP), a parkinsonian disorder in which vertical smooth pursuit is known to be impaired. We measured eye movements of 9 patients with PSP and 12 healthy control subjects. Subjects viewed vertically moving sine-wave gratings that had a temporal frequency of 16.7 Hz, contrast of 32%, and spatial frequencies of 0.17, 0.27 or 0.44 cycles/degree. We measured OFR amplitude as change in eye position in the 70-150 ms, open-loop interval following stimulus onset. Vertical smooth pursuit was studied as subjects attempted to track a 0.27 cycles/degree grating moving sinusoidally through several cycles at frequencies between 0.1 and 2.5 Hz. We found that OFR amplitude, and its dependence on spatial frequency, was similar in PSP patients (group mean 0.10 degree) and control subjects (0.11 degree), but the latency to onset of OFR was greater for PSP patients (group mean 99 ms) than control subjects (90 ms). When OFR amplitude was re-measured, taking into account the increased latency in PSP patients, there was still no difference from control subjects. We confirmed that smooth pursuit was consistently impaired in PSP; group mean tracking gain at 0.7 Hz was 0.29 for PSP patients and 0.63 for controls. Neither PSP patients nor control subjects showed any correlation between OFR amplitude and smooth-pursuit gain. We propose that OFR is spared because it is generated by low-level motion processing that is dependent on posterior cerebral cortex, which is less affected in PSP. Conversely, smooth pursuit depends more on projections from frontal cortex to the pontine nuclei, both of which are involved

  5. Bell's Palsy

    Science.gov (United States)

    ... Palsy? Bell's palsy is a form of temporary facial paralysis resulting from damage or trauma to the facial ... to stroke, is the most common cause of facial paralysis. Generally, Bell's palsy affects only one of the ...

  6. Disease: H00841 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00841 Infantile progressive bulbar palsy, including: Brown-Vialetto-Van Laere synd...rome (BVVLS) ; Fazio-Londe disease Infantile progressive bulbar palsy is a rare neurological disorder that o...ccurs in children. Infantile progressive bulbar palsy presents as following two forms. The Brown-Vialetto-Va...n Laere syndrome (BVVLS) is characterized by progressive pontobulbar palsy associ...ou A, Vagiakou EA Infantile progressive bulbar palsy with deafness. Brain Dev 24:732-5 (2002) PMID:21110228

  7. Accuracy of the National Institute for Neurological Disorders and Stroke/Society for Progressive Supranuclear Palsy and neuroprotection and natural history in Parkinson plus syndromes criteria for the diagnosis of progressive supranuclear palsy.

    Science.gov (United States)

    Respondek, Gesine; Roeber, Sigrun; Kretzschmar, Hans; Troakes, Claire; Al-Sarraj, Safa; Gelpi, Ellen; Gaig, Carles; Chiu, Wang Zheng; van Swieten, John C; Oertel, Wolfgang H; Höglinger, Günter U

    2013-04-01

    Autopsy is the diagnostic gold standard for progressive supranuclear palsy (PSP). The National Institute of Neurological Disorders and Stroke and Society for Progressive Supranuclear Palsy (NINDS-SPSP) criteria for the clinical diagnosis of "probable" PSP are thought to possess high specificity and low sensitivity. The NINDS-SPSP criteria for "possible" PSP are considered to increase sensitivity at the expense of specificity. The Neuroprotection and Natural History in Parkinson Plus Syndromes (NNIPPS) criteria are intended to improve sensitivity while maintaining high specificity. The aim of this study was to conduct a clinicopathological evaluation of the NINDS-SPSP and NNIPPS criteria in tertiary neurological centers. Defined clinical features and their year of onset were recorded by chart review in neuropathologically diagnosed patients with PSP, Parkinsons's disease (PD), MSA parkinsonism and corticobasal degeneration from four European brain banks. Fulfillment of the clinical diagnostic criteria was verified for each year after disease onset and for the final antemortem record. We analyzed 98 PSP patients and 46 disease controls. The NINDS-SPSP "probable" criteria yielded shorter time to diagnosis, slightly higher specificity and positive predictive value (PPV), and similar sensitivity, compared with the NNIPPS criteria. Unexpectedly, the NINDS-SPSP "possible" criteria yielded the lowest sensitivity, specificity, and PPV. A combination of NINDS-SPSP possible and probable criteria yielded the highest sensitivity. We suggest that the NINDS-SPSP probable criteria might be preferred for recruitment of patients for clinical trials, where an early and specific diagnosis is important. For routine clinical care, where high sensitivity is crucial, a combination of NINDS possible and probable criteria might be preferred.

  8. Endoplasmic reticulum stress in spinal and bulbar muscular atrophy: a potential target for therapy.

    Science.gov (United States)

    Montague, Karli; Malik, Bilal; Gray, Anna L; La Spada, Albert R; Hanna, Michael G; Szabadkai, Gyorgy; Greensmith, Linda

    2014-07-01

    Spinal and bulbar muscular atrophy is an X-linked degenerative motor neuron disease caused by an abnormal expansion in the polyglutamine encoding CAG repeat of the androgen receptor gene. There is evidence implicating endoplasmic reticulum stress in the development and progression of neurodegenerative disease, including polyglutamine disorders such as Huntington's disease and in motor neuron disease, where cellular stress disrupts functioning of the endoplasmic reticulum, leading to induction of the unfolded protein response. We examined whether endoplasmic reticulum stress is also involved in the pathogenesis of spinal and bulbar muscular atrophy. Spinal and bulbar muscular atrophy mice that carry 100 pathogenic polyglutamine repeats in the androgen receptor, and develop a late-onset neuromuscular phenotype with motor neuron degeneration, were studied. We observed a disturbance in endoplasmic reticulum-associated calcium homeostasis in cultured embryonic motor neurons from spinal and bulbar muscular atrophy mice, which was accompanied by increased endoplasmic reticulum stress. Furthermore, pharmacological inhibition of endoplasmic reticulum stress reduced the endoplasmic reticulum-associated cell death pathway. Examination of spinal cord motor neurons of pathogenic mice at different disease stages revealed elevated expression of markers for endoplasmic reticulum stress, confirming an increase in this stress response in vivo. Importantly, the most significant increase was detected presymptomatically, suggesting that endoplasmic reticulum stress may play an early and possibly causal role in disease pathogenesis. Our results therefore indicate that the endoplasmic reticulum stress pathway could potentially be a therapeutic target for spinal and bulbar muscular atrophy and related polyglutamine diseases.

  9. Midbrain-to-pons ratio in autopsy-confirmed progressive supranuclear palsy: replication in an independent cohort.

    Science.gov (United States)

    Kaasinen, Valtteri; Kangassalo, Noora; Gardberg, Maria; Isotalo, Juuso; Karhu, Jari; Parkkola, Riitta; Sonninen, Pirkko

    2015-07-01

    Recent neuropathologically confirmed clinical data suggest that the midbrain-to-pons ratio, as calculated from conventional brain MRI, has high specificity and sensitivity for the diagnosis of progressive supranuclear palsy (PSP). Here, we aimed to replicate these findings in an independent autopsy-confirmed cohort of 6 PSP patients and 23 non-PSP patients. Patients with confirmed PSP had clearly lower midbrain-to-pons ratios compared to non-PSP patients (p midbrain-to-pons ratios higher than 0.50, whereas all but one PSP patient had a ratio lower than 0.50. The positive predictive value (PPV) of the ratio (midbrain-to-brain ratios constitute reliable and clinically useful estimates of diagnostic midbrain atrophy in relation to PSP pathology.

  10. The Cure PSP Care Guide: A Telephonic Nursing Intervention for Individuals and Families Living With Progressive Supranuclear Palsy.

    Science.gov (United States)

    Dunlop, Susan Rebecca; Kent, Vicky P; Lashley, Mary; Caruana, Trish

    2016-04-01

    Progressive supranuclear palsy (PSP) is a rare, progressive, and terminal neurodegenerative disease characterized by problems with ambulation, balance, mobility, vision, speech, swallowing, and behavior during the 7- to 10-year course of the illness. Substantial evidence in the nursing literature supports the benefits of patient education, self-management, chronic disease management, telehealth, and nurse navigation programs, which enhance patient and caregiver knowledge, improve day-to-day management by developing an awareness of resources, decrease dependence on services, and address caregiver needs. The Cure PSP Care Guide is a targeted telehealth nursing intervention aimed at providing knowledge, guidance, and resources to the vulnerable individuals and families living with PSP; identifying local resources; and building community. During the course of two telephone calls, individuals and their caregivers are assessed to develop a Cure PSP Care Guide designed to provide guidance along the trajectory. A knowledge assessment, self-efficacy scale, and Caregiver Strain Index are administered before and after the intervention to determine the program intervention effect. Caregiver knowledge assessments improved after the intervention, whereas strain scores were static. Qualitative data show the ability of the intervention to address caregiver needs for knowledge and support, daily management tips, and resource identification. The preliminary quantitative and qualitative data collected on this pilot project justify further exploration of the use of telehealth to remotely deliver nurse case management to the vulnerable individuals and families living with PSP.

  11. The economic costs of progressive supranuclear palsy and multiple system atrophy in France, Germany and the United Kingdom.

    Directory of Open Access Journals (Sweden)

    Paul McCrone

    Full Text Available Progressive supranuclear palsy (PSP and multiple system atrophy (MSA are progressive disabling neurological conditions usually fatal within 10 years of onset. Little is known about the economic costs of these conditions. This paper reports service use and costs from France, Germany and the UK and identifies patient characteristics that are associated with cost. 767 patients were recruited, and 760 included in the study, from 44 centres as part of the NNIPPS trial. Service use during the previous six months was measured at entry to the study and costs calculated. Mean six-month costs were calculated for 742 patients. Data on patient sociodemographic and clinical characteristics were recorded and used in regression models to identify predictors of service costs and unpaid care costs (i.e., care from family and friends. The mean six-month service costs of PSP were €24,491 in France, €30,643 in Germany and €25,655 in the UK. The costs for MSA were €28,924, €25,645 and €19,103 respectively. Unpaid care accounted for 68-76%. Formal and unpaid costs were significantly higher the more severe the illness, as indicated by the Parkinson's Plus Symptom scale. There was a significant inverse relationship between service and unpaid care costs.

  12. Current Status of Treatment of Spinal and Bulbar Muscular Atrophy

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    Fumiaki Tanaka

    2012-01-01

    Full Text Available Spinal and bulbar muscular atrophy (SBMA is the first member identified among polyglutamine diseases characterized by slowly progressive muscle weakness and atrophy of the bulbar, facial, and limb muscles pathologically associated with motor neuron loss in the spinal cord and brainstem. Androgen receptor (AR, a disease-causing protein of SBMA, is a well-characterized ligand-activated transcription factor, and androgen binding induces nuclear translocation, conformational change and recruitment of coregulators for transactivation of AR target genes. Some therapeutic strategies for SBMA are based on these native functions of AR. Since ligand-induced nuclear translocation of mutant AR has been shown to be a critical step in motor neuron degeneration in SBMA, androgen deprivation therapies using leuprorelin and dutasteride have been developed and translated into clinical trials. Although the results of these trials are inconclusive, renewed clinical trials with more sophisticated design might prove the effectiveness of hormonal intervention in the near future. Furthermore, based on the normal function of AR, therapies targeted for conformational changes of AR including amino-terminal (N and carboxy-terminal (C (N/C interaction and transcriptional coregulators might be promising. Other treatments targeted for mitochondrial function, ubiquitin-proteasome system (UPS, and autophagy could be applicable for all types of polyglutamine diseases.

  13. Transgenic mouse models of spinal and bulbar muscular atrophy (SBMA).

    Science.gov (United States)

    Katsuno, M; Adachi, H; Inukai, A; Sobue, G

    2003-01-01

    Spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disease characterized by proximal muscle atrophy, weakness, contraction fasciculations, and bulbar involvement. Only males develop symptoms, while female carriers usually are asymptomatic. A specific treatment for SBMA has not been established. The molecular basis of SBMA is the expansion of a trinucleotide CAG repeat, which encodes the polyglutamine (polyQ) tract, in the first exon of the androgen receptor (AR) gene. The pathologic hallmark is nuclear inclusions (NIs) containing the mutant and truncated AR with expanded polyQ in the residual motor neurons in the brainstem and spinal cord as well as in some other visceral organs. Several transgenic (Tg) mouse models have been created for studying the pathogenesis of SBMA. The Tg mouse model carrying pure 239 CAGs under human AR promoter and another model carrying truncated AR with expanded CAGs show motor impairment and nuclear NIs in spinal motor neurons. Interestingly, Tg mice carrying full-length human AR with expanded polyQ demonstrate progressive motor impairment and neurogenic pathology as well as sexual difference of phenotypes. These models recapitulate the phenotypic expression observed in SBMA. The ligand-dependent nuclear localization of the mutant AR is found to be involved in the disease mechanism, and hormonal therapy is suggested to be a therapeutic approach applicable to SBMA.

  14. A Rare Case of Progressive Palsy of the Lower Leg Caused by a Huge Lumbar Posterior Endplate Lesion after Recurrent Disc Herniation

    Science.gov (United States)

    Higashino, Kosaku; Fumitake, Tezuka; Yamashita, Kazuta; Hayashi, Fumio; Sairyo, Koichi

    2016-01-01

    A lesion of the lumbar posterior endplate is sometimes identified in the spinal canal of children and adolescents; it causes symptoms similar to those of a herniated disc. However, the pathology of the endplate lesion and the pathology of the herniated disc are different. We present a rare case of a 23-year-old woman who developed progressive palsy of the lower leg caused by huge lumbar posterior endplate lesion after recurrent disc herniation. PMID:27648326

  15. A Rare Case of Progressive Palsy of the Lower Leg Caused by a Huge Lumbar Posterior Endplate Lesion after Recurrent Disc Herniation

    Directory of Open Access Journals (Sweden)

    Masatoshi Morimoto

    2016-01-01

    Full Text Available A lesion of the lumbar posterior endplate is sometimes identified in the spinal canal of children and adolescents; it causes symptoms similar to those of a herniated disc. However, the pathology of the endplate lesion and the pathology of the herniated disc are different. We present a rare case of a 23-year-old woman who developed progressive palsy of the lower leg caused by huge lumbar posterior endplate lesion after recurrent disc herniation.

  16. Cerebral Palsy

    Science.gov (United States)

    Cerebral palsy is a group of disorders that affect a person's ability to move and to maintain balance ... do not get worse over time. People with cerebral palsy may have difficulty walking. They may also have ...

  17. Late results of bulbar trigeminal tractotomy

    Science.gov (United States)

    Moffie, D.

    1971-01-01

    Re-examination of eight patients in whom bulbar trigeminal tractotomy had been performed 13 to 15 years previously showed that four had no complaints, and the other four had only very slight complaints about pain. In two patients a Spiller-Frazier operation had been performed after tractotomy, in two patients exairesis of the infraorbital or supraorbital nerve had been done. As bulbar trigeminal tractotomy is a major operation and the risk of recurrence is substantial, the indications for this type of operation have to remain very restricted. Theories to explain the recovery of sensation are discussed. It is possible that regeneration of transected fibres is responsible for the loss of analgesia. Images PMID:5571314

  18. Cortical thickness, surface area and volume measures in Parkinson's disease, multiple system atrophy and progressive supranuclear palsy.

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    Amanda Worker

    Full Text Available Parkinson's disease (PD, Multiple System Atrophy (MSA and Progressive Supranuclear Palsy (PSP are neurodegenerative diseases that can be difficult to distinguish clinically. The objective of the current study was to use surface-based analysis techniques to assess cortical thickness, surface area and grey matter volume to identify unique morphological patterns of cortical atrophy in PD, MSA and PSP and to relate these patterns of change to disease duration and clinical features.High resolution 3D T1-weighted MRI volumes were acquired from 14 PD patients, 18 MSA, 14 PSP and 19 healthy control participants. Cortical thickness, surface area and volume analyses were carried out using the automated surface-based analysis package FreeSurfer (version 5.1.0. Measures of disease severity and duration were assessed for correlation with cortical morphometric changes in each clinical group.Results show that in PSP, widespread cortical thinning and volume loss occurs within the frontal lobe, particularly the superior frontal gyrus. In addition, PSP patients also displayed increased surface area in the pericalcarine. In comparison, PD and MSA did not display significant changes in cortical morphology.These results demonstrate that patients with clinically established PSP exhibit distinct patterns of cortical atrophy, particularly affecting the frontal lobe. These results could be used in the future to develop a useful clinical application of MRI to distinguish PSP patients from PD and MSA patients.

  19. Disease-Specific Regions Outperform Whole-Brain Approaches in Identifying Progressive Supranuclear Palsy: A Multicentric MRI Study

    Science.gov (United States)

    Mueller, Karsten; Jech, Robert; Bonnet, Cecilia; Tintěra, Jaroslav; Hanuška, Jaromir; Möller, Harald E.; Fassbender, Klaus; Ludolph, Albert; Kassubek, Jan; Otto, Markus; Růžička, Evžen; Schroeter, Matthias L.

    2017-01-01

    To identify progressive supranuclear palsy (PSP), we combined voxel-based morphometry (VBM) and support vector machine (SVM) classification using disease-specific features in multicentric magnetic resonance imaging (MRI) data. Structural brain differences were investigated at four centers between 20 patients with PSP and 20 age-matched healthy controls with T1-weighted MRI at 3T. To pave the way for future application in personalized medicine, we applied SVM classification to identify PSP on an individual level besides group analyses based on VBM. We found a major decline in gray matter density in the brainstem, insula, and striatum, and also in frontomedian regions, which is in line with current literature. Moreover, SVM classification yielded high accuracy rates above 80% for disease identification in imaging data. Focusing analyses on disease-specific regions-of-interest (ROI) led to higher accuracy rates compared to a whole-brain approach. Using a polynomial kernel (instead of a linear kernel) led to an increased sensitivity and a higher specificity of disease detection. Our study supports the application of MRI for individual diagnosis of PSP, if combined with SVM approaches. We demonstrate that SVM classification provides high accuracy rates in multicentric data—a prerequisite for potential application in diagnostic routine. PMID:28326008

  20. Progressive Brachial Plexus Palsy after Osteosynthesis of an Inveterate Clavicular Fracture

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    Marco Rosati

    2013-07-01

    Full Text Available Introduction: The thoracic outlet syndrome (TOS is a rare complication of clavicular fracture, occurring in 0.5-9% of cases . In the literature from 1965 – 2010, 425 cases of TOS complicating a claviclular fracture were described. However, only 5 were observed ​​after a surgical procedure of reduction and fixation. The causes of this complication were due to the presence of an exuberant callus, to technical surgery errors or to vascular lesions. In this paper we describe a case of brachial plexus plasy after osteosynthesis of clavicle fracture. Case Report: A 48 year old female, presented to us with inveterate middle third clavicle fracture of 2 months duration. She was an alcoholic, smoker with an history of opiate abuse and was HCV positive. At two month the fracture was displaced with no signs of union and open rigid fixation with plate was done. The immediate postoperative patient had signs of neurologic injury. Five days after surgery showed paralysis of the ulnar nerve, at 10 days paralysis of the median nerve, radial and ulnar paresthesias in the territory of the C5-C6-C7-C8 roots. She was treated with rest, steroids and neurotrophic drugs. One month after surgery the patient had signs of complete denervation around the brachial plexus. Implant removal was done and in a month ulnar and median nerve functions recovered. At three months post implant removal the neurological picture returned to normal. Conclusion: We can say that TOS can be seen as arising secondary to an “iatrogenic compartment syndrome” justified by the particular anatomy of the space cost joint. The appropriateness of the intervention for removal of fixation devices is demonstrated by the fact that the patient has returned to her daily activities in the absence of symptoms and good functional recovery in about three months, despite fracture nonunion. Keywords: Brachial plexus palsy, clavicle fractures, outlet thoracic syndrome.

  1. [Facial palsy].

    Science.gov (United States)

    Cavoy, R

    2013-09-01

    Facial palsy is a daily challenge for the clinicians. Determining whether facial nerve palsy is peripheral or central is a key step in the diagnosis. Central nervous lesions can give facial palsy which may be easily differentiated from peripheral palsy. The next question is the peripheral facial paralysis idiopathic or symptomatic. A good knowledge of anatomy of facial nerve is helpful. A structure approach is given to identify additional features that distinguish symptomatic facial palsy from idiopathic one. The main cause of peripheral facial palsies is idiopathic one, or Bell's palsy, which remains a diagnosis of exclusion. The most common cause of symptomatic peripheral facial palsy is Ramsay-Hunt syndrome. Early identification of symptomatic facial palsy is important because of often worst outcome and different management. The prognosis of Bell's palsy is on the whole favorable and is improved with a prompt tapering course of prednisone. In Ramsay-Hunt syndrome, an antiviral therapy is added along with prednisone. We also discussed of current treatment recommendations. We will review short and long term complications of peripheral facial palsy.

  2. Thirty-six Cases of Pseudobulbar Palsy Treated by Needling with Prompt and Deep Insertion

    Institute of Scientific and Technical Information of China (English)

    Chen Hong

    2006-01-01

    @@ Pseudobulbar palsy refers to bulbar paralysis due to the upper motor neuron injury, which is one of the severe complications of cerebrovascular diseases.The author has treated 36 cases of the disease with acupuncture by a prompt and deep insertion technique, and achieved satisfactory therapeutic results. A report follows.

  3. 干细胞移植治疗脑瘫的研究进展%The research progress of stem cells transplantation in treatment of cerebral palsy

    Institute of Scientific and Technical Information of China (English)

    梁宝仁; 逯军; 娄小丽

    2012-01-01

    脑瘫是一种严重危害儿童健康的疾病.虽然其病因、发病机制及临床表现已基本明确,但关于脑瘫的治疗目前还没有比较理想的方法.干细胞移植最近几年已逐渐成为脑瘫治疗的热点,现就干细胞移植治疗脑瘫研究进展作一综述.%Cerebral palsy is a serious disease that can be harm to children's health. Although its etiology, pathogenesis and clinical manifestations have been clarified, there still has no ideal way to its treatment. Stem cells transplantation has been the hot spot in the treatment of cerebral palsy in recent years. The literatures about the research progress of stem cells transplantation in the treatment of cerebral palsy were reviewed in this paper.

  4. Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system

    OpenAIRE

    Maruyama, Hirofumi; Morino, Hiroyuki; Izumi, Yuishin; Noda, Kouichi; Kawakami, Hideshi

    2013-01-01

    Spinal and bulbar muscular atrophy (SBMA) is a slowly progressive motor neuron disease. Lower and primary sensory neuronopathy is one of the major neuropathological changes that occurs in SBMA. However, many sings are common to SBMA and amyotrophic lateral sclerosis (ALS), and SBMA patients are sometimes diagnosed with ALS. Leuprorelin may be used to treat SBMA, but an accurate diagnosis is necessary for treatment and care. Genetic diagnosis can be performed to detect the expansion of a CAG r...

  5. Correlation with neuropsychological assessment and SPM analysis of brain perfusion SPECT in patients with progressive supranuclear palsy

    Energy Technology Data Exchange (ETDEWEB)

    Jeong, Young Jin; Kang, Do Young; Park, Kyung Won; Kim, Jae Woo [School of Medicine, Dong-A University, Busan (Korea, Republic of)

    2004-07-01

    Progressive supranuclear palsy (PSP) is a degenerative condition of unknown aetiology that produces an akinetic-rigid form of parkinsonism characterised by early falls, dementia and abnormalities of extraocular movements. The patterns of decreased regional cerebral blood flow and cognitive impairment in PSP compared with normal control have been insufficiently investigated and a limited number of studies have been performed. We evaluated clinical symptoms, functional neuroimaging study using Tc-99m HMPAO SPECT and neuropsychological profiles in patients with PSP. Eleven patients with PSP diagnosed by the clinical criteria of National Institute of Neurological Disorders and Stroke and the Society for PSP (NINDS-SPSP) (mean age: 70.5{+-}5.6 years, educational period: 4.5{+-}4.7 years) and age-matched 10 healthy control subjects (mean age: 68.1{+-}4.5 years, educational period: 6.5{+-}4.1 years) participated in this study were participated. All patients were given a neurologic examination, brain MRI and cerebral perfusion SPECT using Tc-99m HMPAO. We concomittently evaluated several cognitive profiles using the Seoul Neuropsychological Screening Battery. SPM analysis of the SPECT image showed significant perfusion deficits in the left inferior frontal gyrus, left caudate nucleus, left middle frontal gyrus and cingulate gyrus in the patients with PSP compared with age-matched healthy control (uncorrected p<0.01). On neuropsychological assessment, cognitive deficits on verbal and visual memory, word fluency and frontal executive functions were prominent in most patients with PSP compared with healthy control subjects. Our findings suggest that measurement of regional cerebral blood flow by perfusion SPECT and voxel-based SPM analysis with neuropsychological assessment are useful to understanding the correlation between perfusion deficits and abnormal cognitive profiles in patients with PSP.

  6. What features improve the accuracy of the clinical diagnosis of progressive supranuclear palsy-parkinsonism (PSP-P)?

    Science.gov (United States)

    Williams, David R; Lees, Andrew J

    2010-02-15

    Progressive supranuclear palsy-parkinsonism (PSP-P) is a primary tauopathy characterised by neurofibrillary degeneration, which is frequently mistaken for Parkinson's disease (PD), multiple system atrophy (MSA), and vascular parkinsonism (VP) at presentation. The aim of this study was to identify particular clinical features (green flags) that may be helpful in differentiating PSP-P from these other disorders. We identified 37 patients with PSP-P from 726 patients archived at the Queen Square Brain Bank. Using a retrospective case notes review the clinical features were compared between the PSP-P group and Lewy body associated parkinsonism (PD, n = 444 and dementia with Lewy bodies (DLB), n = 46), MSA (n = 90), and VP (n = 19), using the chi(2)-test for proportions for a two-by-two contingency table. The sensitivity, specificity, and positive predictive values (PPV) and negative predictive values (NPV) were calculated for individual clinical features. A specificity of >0.85 or a PPV of >0.85 were considered reliable discriminators. No clinical features were predictive of PSP-P, but late drug induced dyskinesias (specificity 0.92, PPV 0.99), late autonomic dysfunction (specificity 0.94, PPV 0.99) and any visual hallucinations (specificity 0.94, PPV 0.99) were better in distinguishing PD and PSP-P than predicted using operational diagnostic criteria for PD. PSP-P shares many clinical features with PD and DLB, MSA and VP, but visual hallucinations, drug induced dyskinesias and autonomic dysfunction are very uncommon and may be helpful exclusion criteria.

  7. Spin-lattice distribution MRI maps nigral pathology in progressive supranuclear palsy (PSP) during life: a pilot study.

    Science.gov (United States)

    Hutchinson, Michael; Raff, Ulrich; Chaná, Pedro; Huete, Isidro

    2014-01-01

    An MRI biomarker for Parkinsonism has long been sought, but almost all attempts at conventional field strengths have proved unsatisfactory, since patients and controls are not separated. The exception is Spin-Lattice Distribution MRI (SLD-MRI), a technique which detects changes in the substantia nigra (SN) due to changes in the spin-lattice relaxation time, T1. This easily separates patients with Parkinson's disease (PD) from control subjects at 1.5 Tesla, suggesting that it may be sensitive to presymptomatic disease. SLD-MRI demonstrates a topography of signal change within the SN which is the same as the known topography of pathological change, where the lateral portions of the nucleus are more affected than the medial. In a further step towards its validation, we apply SLD-MRI to a disease control, Progressive Supranuclear Palsy (PSP), the most common of the atypical forms of Parkinsonism. In PSP the topography of pathological change in the SN is reversed. We therefore hypothesized that PSP would show a topography of SLD-MRI signal change in the SN that is the reverse of PD (i.e. the medial portion is more affected than the lateral). All 7 patients showed such a topography of MR signal, and all patients were separated from control subjects. Although this is a step toward validation of SLD-MRI with respect to sensitivity and disease specificity, nevertheless we stress that this is a pilot project only. Validation will only be possible when comparing larger cohorts of PSP, PD and control subjects.

  8. Spin-lattice distribution MRI maps nigral pathology in progressive supranuclear palsy (PSP during life: a pilot study.

    Directory of Open Access Journals (Sweden)

    Michael Hutchinson

    Full Text Available An MRI biomarker for Parkinsonism has long been sought, but almost all attempts at conventional field strengths have proved unsatisfactory, since patients and controls are not separated. The exception is Spin-Lattice Distribution MRI (SLD-MRI, a technique which detects changes in the substantia nigra (SN due to changes in the spin-lattice relaxation time, T1. This easily separates patients with Parkinson's disease (PD from control subjects at 1.5 Tesla, suggesting that it may be sensitive to presymptomatic disease. SLD-MRI demonstrates a topography of signal change within the SN which is the same as the known topography of pathological change, where the lateral portions of the nucleus are more affected than the medial. In a further step towards its validation, we apply SLD-MRI to a disease control, Progressive Supranuclear Palsy (PSP, the most common of the atypical forms of Parkinsonism. In PSP the topography of pathological change in the SN is reversed. We therefore hypothesized that PSP would show a topography of SLD-MRI signal change in the SN that is the reverse of PD (i.e. the medial portion is more affected than the lateral. All 7 patients showed such a topography of MR signal, and all patients were separated from control subjects. Although this is a step toward validation of SLD-MRI with respect to sensitivity and disease specificity, nevertheless we stress that this is a pilot project only. Validation will only be possible when comparing larger cohorts of PSP, PD and control subjects.

  9. Selective frontal neurodegeneration of the inferior fronto-occipital fasciculus in progressive supranuclear palsy (PSP demonstrated by diffusion tensor tractography

    Directory of Open Access Journals (Sweden)

    Elfgren Christina

    2011-01-01

    Full Text Available Abstract Background The clinical presentation in progressive supranuclear palsy (PSP, an atypical parkinsonian disorder, includes varying degrees of frontal dysexecutive symptoms. Using diffusion tensor imaging (DTI and tractography (DTT, we investigated whether diffusion changes and atrophy of the inferior fronto-occipital fasciculus (IFO occurs in PSP and if these changes correlate with disease stage and clinical phenotype. The corticospinal tract (CST, which is often involved in PSP, was investigated for comparison. Methods DTI of the whole brain was performed with a 3 T MR scanner using a single shot-EPI sequence with diffusion encoding in 48 directions. Scans were obtained in patients with PSP (n = 13 and healthy age-matched controls (n = 12. DTT of the IFO and CST was performed with the PRIDE fibre tracking tool (Philips Medical System. Fractional anisotropy (FA and apparent diffusion coefficient (ADC were calculated and correlated with disease stage and clinical phenotype. Results In patients with PSP, significantly decreased FA and increased ADC was found in the frontal part of IFO compared with the medial and occipital parts of IFO, as well as compared to controls. Four of the thirteen patients with PSP showed a marked decrease in the number of tracked voxels in the frontal part of IFO. These findings were most pronounced in patients with severe frontal cognitive symptoms, such as dysexecutive problems, apathy and personality change. There was a strong correlation (r2 = -0.84; p Conclusions DTT for identification of neuronal tracts with subsequent measurement of FA and ADC is a useful diagnostic tool for demonstrating patterns of neuronal tract involvement in neurodegenerative disease. In selected tracts, FA and ADC values might act as surrogate markers for disease stage.

  10. Genotype-phenotype correlation in Chinese patients with spinal and bulbar muscular atrophy.

    Directory of Open Access Journals (Sweden)

    Wang Ni

    Full Text Available Spinal and bulbar muscular atrophy (SBMA is an X-linked recessive motor neuron disease characterized by slowly progressive weakness and atrophy of proximal limbs and bulbar muscles. To assess the genotype-phenotype correlation in Chinese patients, we identified 155 patients with SBMA and retrospectively examined available data from laboratory tests and neurophysiological analyses. Correlations between genotype and phenotype were analyzed. There was an inverse correlation between the length of CAG repeats and age at first muscle weakness (p<0.0001. The serum creatine kinase level showed a significant inverse correlation with disease duration and the age at examination (p=0.019 and p=0.004, respectively. Unlike previous classification of motor- and sensory-dominant phenotypes, all findings of nerve conduction, except the amplitudes of median nerve compound motor action potential, were positively correlated to the length of CAG repeats. A significant decline in sensory nerve action potential amplitudes may assist differential diagnosis of SBMA.

  11. Regional expression of the MAPT gene is associated with loss of hubs in brain networks and cognitive impairment in Parkinson disease and progressive supranuclear palsy.

    Science.gov (United States)

    Rittman, Timothy; Rubinov, Mikail; Vértes, Petra E; Patel, Ameera X; Ginestet, Cedric E; Ghosh, Boyd C P; Barker, Roger A; Spillantini, Maria Grazia; Bullmore, Edward T; Rowe, James B

    2016-12-01

    Abnormalities of tau protein are central to the pathogenesis of progressive supranuclear palsy, whereas haplotype variation of the tau gene MAPT influences the risk of Parkinson disease and Parkinson's disease dementia. We assessed whether regional MAPT expression might be associated with selective vulnerability of global brain networks to neurodegenerative pathology. Using task-free functional magnetic resonance imaging in progressive supranuclear palsy, Parkinson disease, and healthy subjects (n = 128), we examined functional brain networks and measured the connection strength between 471 gray matter regions. We obtained MAPT and SNCA microarray expression data in healthy subjects from the Allen brain atlas. Regional connectivity varied according to the normal expression of MAPT. The regional expression of MAPT correlated with the proportionate loss of regional connectivity in Parkinson's disease. Executive cognition was impaired in proportion to the loss of hub connectivity. These effects were not seen with SNCA, suggesting that alpha-synuclein pathology is not mediated through global network properties. The results establish a link between regional MAPT expression and selective vulnerability of functional brain networks to neurodegeneration.

  12. Bell's Palsy

    Science.gov (United States)

    ... Bell's palsy, some people with the condition may benefit from the following: Relaxation techniques. Relaxing by using techniques such as meditation and yoga may relieve muscle tension and chronic pain. Acupuncture. ...

  13. Head and Arm Tremor in X-linked Spinal and Bulbar Muscular Atrophy

    Science.gov (United States)

    Aicua, Irene; Verhagen, Okker; Arenaza, Naroa; Cubo, Esther

    2014-01-01

    Background X-linked spinal and bulbar muscular atrophy (SBMA) is a rare adult-onset neuronopathy. Although tremor is known to occur in this disease, the number of reported cases of SBMA with tremor is rare, and the number with videotaped documentation is exceedingly rare. Our aim was to describe/document the characteristic signs of tremor in spinal and bulbar muscular atrophy. Case Report We report a case of a 58-year-old male with a positive family history of tremor. On examination, the patient had jaw and hand tremors but he also exhibited gynecomastia, progressive bulbar paresis, and wasting and weakness primarily in the proximal limb muscles. The laboratory tests revealed an elevated creatine phosphokinase. Genetic testing was positive for X-SBMA, with 42 CAG repeats. Discussion Essential tremor is one of the most common movement disorders, yet it is important for clinicians to be aware of the presence of other distinguishing features that point to alternative diagnoses. The presence of action tremor associated with muscle atrophy and gynecomastia should lead to a suspicion of SBMA. PMID:25374767

  14. Progressive Supranuclear Palsy

    Science.gov (United States)

    ... PSP may help shed light on Parkinson’s and Alzheimer’s diseases. Research on these diseases and other disorders can be found using NIH RePORTER ( http://projectreporter.nih.gov ), a searchable database of current and past research projects supported by NIH and ...

  15. Hypospadias as a novel feature in spinal bulbar muscle atrophy.

    Science.gov (United States)

    Nordenvall, Anna Skarin; Paucar, Martin; Almqvist, Catarina; Nordenström, Anna; Frisén, Louise; Nordenskjöld, Agneta

    2016-04-01

    Spinal and bulbar muscle atrophy (SBMA) is an X-linked neuromuscular disorder caused by CAG repeat expansions in the androgen receptor (AR) gene. The SBMA phenotype consists of slowly progressive neuromuscular symptoms and undermasculinization features as the result of malfunction of the AR. The latter mainly includes gynecomastia and infertility. Hypospadias is also a feature of undermasculinization with an underdeveloped urethra and penis; it has not been described as part of the SBMA phenotype but has been suggested to be associated with a prolonged CAG repeat in the AR gene. This study includes the first epidemiologic description of the co-occurrence of hypospadias and SBMA in subjects and their male relatives in Swedish population-based health registers, as well as an additional clinical case. One boy with severe hypospadias was screened for mutations in the AR gene and was found to have 42 CAG repeats in it, which is in the full range of mutations causing SBMA later in life. We also detected a maximum of four cases displaying the combination of SBMA and hypospadias in our national register databases. This is the third case report with hypospadias in association with CAG repeat expansions in the AR gene in the full range known to cause SBMA later in life. Our findings suggest that hypospadias may be an under diagnosed feature of the SBMA phenotype and we propose that neurologists working with SBMA further investigate and report the true prevalence of hypospadias among patients with SBMA.

  16. Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA).

    Science.gov (United States)

    Katsuno, Masahisa; Tanaka, Fumiaki; Adachi, Hiroaki; Banno, Haruhiko; Suzuki, Keisuke; Watanabe, Hirohisa; Sobue, Gen

    2012-12-01

    Spinal and bulbar muscular atrophy (SBMA) is a late-onset motor neuron disease characterized by slowly progressive muscle weakness and atrophy. During the last two decades, basic and clinical research has provided important insights into the disease phenotype and pathophysiology. The cause of SBMA is the expansion of a trinucleotide CAG repeat encoding a polyglutamine tract within the first exon of the androgen receptor (AR) gene. SBMA exclusively affects adult males, whereas females homozygous for the AR mutation do not manifest neurological symptoms. The ligand-dependent nuclear accumulation of the polyglutamine-expanded AR protein is central to the gender-specific pathogenesis of SBMA, although additional steps, e.g., DNA binding, inter-domain interactions, and post-translational modification of AR, modify toxicity. The interactions with co-regulators are another requisite for the toxic properties of the polyglutamine-expanded AR. It is also shown that the polyglutamine-expanded AR induces diverse molecular events, such as transcriptional dysregulation, axonal transport disruption, and mitochondrial dysfunction, which play causative roles in the neurodegeneration in SBMA. The pathogenic AR-induced myopathy also contributes to the non-cell autonomous degeneration of motor neurons. Pre-clinical studies using animal models show that the pathogenic AR-mediated neurodegeneration is suppressed by androgen inactivation, the efficacy of which has been tested in clinical trials. Pharmacological activation of cellular defense machineries, such as molecular chaperones, ubiquitin-proteasome system, and autophagy, also exerts neuroprotective effects in experimental models of SBMA.

  17. Towards a European Registry and Biorepository for Patients with Spinal and Bulbar Muscular Atrophy

    DEFF Research Database (Denmark)

    Pareyson, Davide; Fratta, Pietro; Pradat, Pierre-François;

    2016-01-01

    Pathomechanisms of spinal and bulbar muscular atrophy (SBMA) have been extensively investigated and are partially understood, but no effective treatment is currently available for this disabling disorder. Its rarity, the slow disease progression, and lack of sensitive-to-change outcome measures...... render design and conduction of clinical trials a challenging task. Therefore, it is fundamental to strengthen the network of clinical centers interested in SBMA for clinical trial readiness. We propose to create and maintain an International SBMA Registry where as many well-characterized patients...

  18. A sphenoid sinus mucocele simulating as retro bulbar optic neuritis

    Directory of Open Access Journals (Sweden)

    Anoop Kishore Gupta

    2012-01-01

    Full Text Available A 25-year-old male presented with complaints of sudden diminution of vision with pain on eye movement in the left eye which was diagnosed clinically as retro bulbar optic neuritis. However, magnetic resonance imaging (MRI showed lesion consistent with sphenoid sinus mucocele. Early surgical removal of mucocele led to complete recovery of vision, contrast and visual field. A high index of suspicion is necessary for intracranial lesions in all cases of retro bulbar neuritis, especially those with atypical symptoms.

  19. Pathogenesis-targeting therapeutics for spinal and bulbar muscular atrophy (SBMA).

    Science.gov (United States)

    Suzuki, Keisuke; Kastuno, Masahisa; Banno, Haruhiko; Sobue, Gen

    2009-08-01

    Spinal and bulbar muscular atrophy (SBMA) is an hereditary, adult-onset, lower motor neuron disease caused by an aberrant elongation of a trinucleotide CAG repeat, which encodes the polyglutamine tract, in the first exon of the androgen receptor (AR) gene. The main symptoms are slowly progressive muscle weakness and atrophy of bulbar, facial and limb muscles. The cardinal histopathological findings of SBMA are an extensive loss of lower motor neurons in the anterior horn of the spinal cord as well as in brainstem motor nuclei and intranuclear accumulations of mutant AR protein in the residual motor neurons. Androgen deprivation therapy rescues neuronal dysfunction in animal models of SBMA, suggesting that the molecular basis for motor neuron degeneration in this disorder is testosterone-dependent nuclear accumulation of the mutant AR. Suppression of disease progression by leuprorelin acetate has also been demonstrated in a phase 2 clinical trial. In addition, the clarification of pathophysiology leads to appearance of candidate drugs to treat this devastating disease: heat shock protein (HSP) inducer, Hsp90 inhibitor, and histone deacetylase inhibitor. Advances in basic and clinical research on SBMA are now paving the way for clinical application of pathogenesis-targeting therapeutics.

  20. FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical phenotype of TDP-43 proteinopathies. A report of three cases

    Directory of Open Access Journals (Sweden)

    Holmerová Iva

    2011-05-01

    Full Text Available Abstract Background Frontotemporal lobar degeneration with ubiquitin and TDP-43 positive neuronal inclusions represents a novel entity (FTLD-TDP that may be associated with motor neuron disease (FTLD-MND; involvement of extrapyramidal and other systems has also been reported. Case presentation We present three cases with similar clinical symptoms, including Parkinsonism, supranuclear gaze palsy, visuospatial impairment and a behavioral variant of frontotemporal dementia, associated with either clinically possible or definite MND. Neuropathological examination revealed hallmarks of FTLD-TDP with major involvement of subcortical and, in particular, mesencephalic structures. These cases differed in onset and progression of clinical manifestations as well as distribution of histopathological changes in the brain and spinal cord. Two cases were sporadic, whereas the third case had a pathological variation in the progranulin gene 102 delC. Conclusions Association of a "progressive supranuclear palsy-like" syndrome with marked visuospatial impairment, motor neuron disease and early behavioral disturbances may represent a clinically distinct phenotype of FTLD-TDP. Our observations further support the concept that TDP-43 proteinopathies represent a spectrum of disorders, where preferential localization of pathogenetic inclusions and neuronal cell loss defines clinical phenotypes ranging from frontotemporal dementia with or without motor neuron disease, to corticobasal syndrome and to a progressive supranuclear palsy-like syndrome.

  1. Anatomy of cerebellar nucleo-bulbar projections in the rat

    NARCIS (Netherlands)

    T.M. Teune (Thea)

    1999-01-01

    textabstractThe cerebellum is located caudal to the cerebral hemispheres and is connected to the rest of the brain by way of three "peduncles", that convey its afferent and efferent information. The cerebellum is functionally related to spinal, bulbar and cerebral motor systems. Its role in the corr

  2. Pathogenesis, animal models and therapeutics in spinal and bulbar muscular atrophy (SBMA).

    Science.gov (United States)

    Katsuno, Masahisa; Adachi, Hiroaki; Waza, Masahiro; Banno, Haruhiko; Suzuki, Keisuke; Tanaka, Fumiaki; Doyu, Manabu; Sobue, Gen

    2006-07-01

    Spinal and bulbar muscular atrophy (SBMA) is a hereditary neurodegenerative disease characterized by slowly progressive muscle weakness and atrophy of bulbar, facial, and limb muscles. The cause of SBMA is expansion of a trinucleotide CAG repeat, which encodes the polyglutamine tract, in the first exon of the androgen receptor (AR) gene. SBMA chiefly occurs in adult males, whereas neurological symptoms are rarely detected in females having mutant AR gene. The cardinal histopathological finding of SBMA is loss of lower motor neurons in the anterior horn of spinal cord as well as in brainstem motor nuclei. Animal models carrying human mutant AR gene recapitulate polyglutamine-mediated motor neuron degeneration, providing clues to the pathogenesis of SBMA. There is increasing evidence that testosterone, the ligand of AR, plays a pivotal role in the pathogenesis of neurodegeneration in SBMA. The striking success of androgen deprivation therapy in SBMA mouse models has been translated into clinical trials. In addition, elucidation of pathophysiology using animal models leads to emergence of candidate drugs to treat this devastating disease: HSP inducer, Hsp90 inhibitor, and histone deacetylase inhibitor. Utilizing biomarkers such as scrotal skin biopsy would improve efficacy of clinical trials to verify the results from animal studies. Advances in basic and clinical researches on SBMA are now paving the way for clinical application of potential therapeutics.

  3. Insulinlike growth factor (IGF)-1 administration ameliorates disease manifestations in a mouse model of spinal and bulbar muscular atrophy.

    Science.gov (United States)

    Rinaldi, Carlo; Bott, Laura C; Chen, Ke-lian; Harmison, George G; Katsuno, Masahisa; Sobue, Gen; Pennuto, Maria; Fischbeck, Kenneth H

    2012-12-06

    Spinal and bulbar muscular atrophy is an X-linked motor neuron disease caused by polyglutamine expansion in the androgen receptor. Patients develop slowly progressive proximal muscle weakness, muscle atrophy and fasciculations. Affected individuals often show gynecomastia, testicular atrophy and reduced fertility as a result of mild androgen insensitivity. No effective disease-modifying therapy is currently available for this disease. Our recent studies have demonstrated that insulinlike growth factor (IGF)-1 reduces the mutant androgen receptor toxicity through activation of Akt in vitro, and spinal and bulbar muscular atrophy transgenic mice that also overexpress a noncirculating muscle isoform of IGF-1 have a less severe phenotype. Here we sought to establish the efficacy of daily intraperitoneal injections of mecasermin rinfabate, recombinant human IGF-1 and IGF-1 binding protein 3, in a transgenic mouse model expressing the mutant androgen receptor with an expanded 97 glutamine tract. The study was done in a controlled, randomized, blinded fashion, and, to reflect the clinical settings, the injections were started after the onset of disease manifestations. The treatment resulted in increased Akt phosphorylation and reduced mutant androgen receptor aggregation in muscle. In comparison to vehicle-treated controls, IGF-1-treated transgenic mice showed improved motor performance, attenuated weight loss and increased survival. Our results suggest that peripheral tissue can be targeted to improve the spinal and bulbar muscular atrophy phenotype and indicate that IGF-1 warrants further investigation in clinical trials as a potential treatment for this disease.

  4. 脑性瘫痪的外科治疗进展%Progress in surgical treatment for cerebral palsy

    Institute of Scientific and Technical Information of China (English)

    于炎冰

    2005-01-01

    目的:探讨脑性瘫痪的外科治疗进展.资料来源:应用计算机检索Medline 1997-01/2004-09的与脑性瘫痪的外科治疗相关文章,检索词"cerebral palsy,surgicaltreatment",并限定语言种类为English,以及中文全文数据库CNKI1997-01/2004-09相关文章,检索词"脑性瘫痪,外科治疗",并手工检索近期的相关中文期刊和有关书籍.资料选择:对资料进行初审,选出包含研究目的的文献,筛除与目的无关的文献.纳入标准为:①脑性瘫痪的外科治疗.②临床试验研究.排除标准为脑性瘫痪的非外科治疗.资料提炼:共找出相关性强的文献57篇,并查找全文,其中37篇涉及脑瘫的神经外科手术治疗,15篇涉及脑瘫的矫形外科手术治疗,5篇涉及脑瘫的综合的外科手术治疗.资料综合:57篇文献对有关脑瘫的外科手术治疗进行综合分析.结论:手术治疗总的原则为:全面临床评估,严格掌握手术适应证,通过解除痉挛、纠正畸形为康复治疗提供条件或起辅助作用.选择性脊神经后根部分切断术和周围神经选择性部分切断术是治疗脑瘫性肢体痉挛状态安全有效的神经外科手术方法.及时的、长期、正规的康复训练是治疗脑瘫的最主要方法,手术治疗只是为康复创造条件或为补充的手段而不能替代康复.

  5. Aerobic training in children with cerebral palsy.

    Science.gov (United States)

    Nsenga, A L; Shephard, R J; Ahmaidi, S; Ahmadi, S

    2013-06-01

    Rehabilitation is a major goal for children with cerebral palsy, although the potential to enhance cardio-respiratory fitness in such individuals remains unclear. This study thus compared current cardio-respiratory status between children with cerebral palsy and able-bodied children, and examined the ability to enhance the cardio-respiratory fitness of children with cerebral palsy by cycle ergometer training. 10 children with cerebral palsy (Gross Motor Function Classification System levels I and II) participated in thrice-weekly 30 min cycle ergometer training sessions for 8 weeks (mean age: 14.2±1.9 yrs). 10 additional subjects with cerebral palsy (mean age: 14.2±1.8 yrs) and 10 able-bodied subjects (mean age: 14.1±2.1 yrs) served as controls, undertaking no training. All subjects undertook a progressive cycle ergometer test of cardio-respiratory fitness at the beginning and end of the 8-week period. Cardio-respiratory parameters [oxygen intake V˙O2), ventilation V ˙ E) and heart rate (HR)] during testing were measured by Cosmed K4 b gas analyzer. The children with cerebral palsy who engaged in aerobic training improved their peak oxygen consumption, heart rate and ventilation significantly (pchildren with cerebral palsy can benefit significantly from cardio-respiratory training, and such training should be included in rehabilitation programs.

  6. Iodine 123-labeled meta-iodobenzylguanidine myocardial scintigraphy in the cases of idiopathic Parkinson`s disease, multiple system atrophy, and progressive supranuclear palsy

    Energy Technology Data Exchange (ETDEWEB)

    Yoshita, Mitsuhiro; Hayashi, Michiyuki; Hirai, Shunsaku [Tokyo Metropolitan Neurological Hospital (Japan)

    1997-06-01

    To investigate cardiac sympathetic function in Parkinson`s disease (PD), multiple system atrophy (MSA), and progressive supranuclear palsy (PSP), {sup 123}I-MIBG myocardial scintigraphy was performed in 25 patients with PD, 25 patients with MSA, 14 patients with PSP, and 20 control subjects. In planar imaging studies, the heart-to-mediastinum average count ratio (H/M) was calculated for both early and delayed images. The mean value of H/M in patients with PD was significantly lower than in those with MSA, PSP, or no disease. Regardless of disease severity or intensity of anti-parkinsonian pharmacotherapy, mean values for H/M were always low in patients with PD. The mean values of H/M in patients with MSA and PSP were significantly lower than in controls. There was no significant difference between the mean value of H/M in MSA with orthostatic hypotension (OH) and that in MSA without OH, and also there was no significant difference between the mean value of H/M in MSA with striatonigral degeneration and that in MSA with olivopontocerebellar atrophy. Although the mean value of H/M in PSP with amitriptyline treatment was significantly lower than that in PSP patients without amitriptyline treatment, there was no significant difference between the mean value of H/M in PSP patients without amitriptyline treatment and that in controls. There was no correlation between H/M and disease duration in those three akinetic-rigid disorders that we have studied here. Thus, PD may have an abnormality of cardiac sympathetic function which has not been detected by previous cardiovascular autonomic studies. Particularly in early stages, {sup 123}I-MIBG myocardial scintigraphy may help to differentiate PD from MSA and PSP. (K.H.)

  7. Identification by [{sup 99m}Tc]ECD SPECT of anterior cingulate hypoperfusion in progressive supranuclear palsy, in comparison with Parkinson's disease

    Energy Technology Data Exchange (ETDEWEB)

    Varrone, Andrea [University Federico II, Biostructure and Bioimaging Institute, National Research Council/Department of Biomorphological and Functional Sciences, Napoli (Italy); Karolinska Hospital, Department of Clinical Neuroscience, Psychiatry Section, Stockholm (Sweden); Pagani, Marco; Salmaso, Dario [National Research Council, Institute of Cognitive Sciences and Technologies, Rome and Padua (Italy); Salvatore, Elena; Amboni, Marianna; De Michele, Giuseppe; Filla, Alessandro; Barone, Paolo [University Federico II, Department of Neurological Sciences, Napoli (Italy); Sansone, Valeria; Pappata, Sabina; Salvatore, Marco [University Federico II, Biostructure and Bioimaging Institute, National Research Council/Department of Biomorphological and Functional Sciences, Napoli (Italy); Nobili, Flavio [University of Genoa, Clinical Neurophysiology, Department of Endocrinological and Metabolic Sciences, Genoa (Italy)

    2007-07-15

    Progressive supranuclear palsy (PSP) is an akinetic-rigid syndrome that can be difficult to differentiate from Parkinson's disease (PD), particularly at an early stage. [{sup 99m}Tc]ethyl cysteinate dimer (ECD) SPECT could represent a widely available tool to assist in the differential diagnosis. In this study we used voxel-based analysis and Computerised Brain Atlas (CBA)-based principal component analysis (PCA) of [{sup 99m}Tc]ECD SPECT data to test whether: (1) specific patterns of rCBF abnormalities can differentiate PSP from controls and PD; (2) networks of dysfunctional brain regions can be found in PSP vs controls and PD. Nine PD patients, 16 PSP patients and ten controls were studied with [{sup 99m}Tc]ECD SPECT using a brain-dedicated device (Ceraspect). Voxel-based analysis was performed with statistical parametric mapping. PCA was applied to volume of interest data after spatial normalisation to CBA. The voxel-based analysis showed hypoperfusion of the anterior cingulate and medial frontal cortex in PSP compared with controls and PD. In PSP patients the rCBF impairment extended to the pre-supplementary motor area and prefrontal cortex, areas involved in executive function and motor networks. Compared with PSP patients, PD patients showed a mild rCBF decrease in associative visual areas which could be related to the known impairment of visuospatial function. The PCA identified three principal components differentiating PSP patients from controls and/or PD patients that included groups of cortical and subcortical brain regions with relatively decreased (cingulate cortex, prefrontal cortex and caudate) or increased (parietal cortex) rCBF, representing distinct functional networks in PSP. Anterior cingulate hypoperfusion seems to be an early, distinct brain abnormality in PSP as compared with PD. (orig.)

  8. Voxelwise meta-ananlysis of gray matter anomalies in progressive supranuclear palsy and Parkinson’s disease using anatomic likelihood estimation

    Directory of Open Access Journals (Sweden)

    Huifang eShang

    2014-02-01

    Full Text Available Numerous voxel-based morphometry (VBM studies on gray matter (GM of patients with progressive supranuclear palsy (PSP and Parkinson’s disease (PD have been conducted separately. Identifying the different neuroanatomical changes in GM resulting from PSP and PD through meta-analysis will aid the differential diagnosis of PSP and PD. In this study, a systematic review of VBM studies of patients with PSP and PD relative to healthy controls (HC in the Embase and PubMed databases from January 1995 to April 2013 was conducted. The anatomical distribution of the coordinates of GM differences was meta-analyzed using anatomical likelihood estimation. Separate maps of GM changes were constructed and subtraction meta-analysis was performed to explore the differences in GM abnormalities between PSP and PD. Nine PSP studies and 24 PD studies were included. GM reductions were present in the bilateral thalamus, basal ganglia, midbrain, insular cortex and inferior frontal gyrus, and left precentral gyrus and anterior cingulate gyrus in PSP. Atrophy of GM was concentrated in the bilateral middle and inferior frontal gyrus, precuneus, left precentral gyrus, middle temporal gyrus, right superior parietal lobule, and right cuneus in PD. Subtraction meta-analysis indicated that GM volume was lesser in the bilateral midbrain, thalamus, and insula in PSP compared with that in PD. Our meta-analysis indicated that PSP and PD shared a similar distribution of neuroanatomical changes in the frontal lobe, including inferior frontal gyrus and precentral gyrus, and that atrophy of the midbrain, thalamus, and insula are neuroanatomical markers for differentiating PSP from PD.

  9. United Cerebral Palsy

    Science.gov (United States)

    ... be sure to follow us on Twitter . United Cerebral Palsy UCP educates, advocates and provides support services to ... Partners Merz Logo Sprint Relay Copyright © 2015 United Cerebral Palsy 1825 K Street NW Suite 600 Washington, DC ...

  10. 脑性瘫痪的危险因素研究进展(综述)%Risk factors of cerebral palsy research progress

    Institute of Scientific and Technical Information of China (English)

    周陶成; 王训

    2014-01-01

    The incidence of cerebral palsy is currently on the rise. Etiology and pathology of cerebral palsy is quite complex.Time of brain injury, the risk factors often are divided into prenatal factors, intrapartum factors and postnatal factors . Previously widely believed, intrapartum and postnatal factors are the main reason for cerebral palsy, but in recent years the view that prenatal factors are the main causes of cerebral palsy. Intrapartum and postnatal risk factors are likely to be the result of prenatal quantitative factors, rather than direct cause of cerebral palsy.%脑性瘫痪目前发病率有上升趋势,病因相当复杂,其危险因素按脑损伤发生的时间常分为产前因素、产时因素和产后因素。以前普遍认为,产时和产后因素是脑瘫的主要原因,但近年来认为,产前因素是脑瘫的主要病因,产时和产后危险因素很可能是产前因素导致的结果变量,而不是脑瘫的直接病因。

  11. Clinical features and molecular mechanisms of spinal and bulbar muscular atrophy (SBMA).

    Science.gov (United States)

    Katsuno, Masahisa; Banno, Haruhiko; Suzuki, Keisuke; Adachi, Hiroaki; Tanaka, Fumiaki; Sobue, Gen

    2010-01-01

    Spinal and bulbar muscular atrophy (SBMA) is an adult-onset neurodegenerative disease characterized by slowly progressive muscle weakness and atrophy. The cause of this disease is the expansion of a trinucleotide CAG repeat, which encodes the polyglutamine tract, within the first exon of the androgen receptor (AR) gene. SBMA exclusively occurs in adult males, whereas both heterozygous and homozygous females are usually asymptomatic. Lower motor neurons in the anterior horn of the spinal cord and those in the brainstem motor nuclei are predominantly affected in SBMA, and other neuronal and nonneuronal tissues are also widely involved to some extent. Testosterone-dependent nuclear accumulation of the pathogenic AR protein has been considered to be a fundamental step of neurodegenerative process, which is followed by several molecular events such as transcriptional dysregulation, axonal transport disruption and mitochondrial dysfunction. Results of animal studies suggest that androgen deprivation and activation of protein quality control systems are potential therapies for SBMA.

  12. Nemo-like kinase is a novel regulator of spinal and bulbar muscular atrophy.

    Science.gov (United States)

    Todd, Tiffany W; Kokubu, Hiroshi; Miranda, Helen C; Cortes, Constanza J; La Spada, Albert R; Lim, Janghoo

    2015-08-26

    Spinal and bulbar muscular atrophy (SBMA) is a progressive neuromuscular disease caused by polyglutamine expansion in the androgen receptor (AR) protein. Despite extensive research, the exact pathogenic mechanisms underlying SBMA remain elusive. In this study, we present evidence that Nemo-like kinase (NLK) promotes disease pathogenesis across multiple SBMA model systems. Most remarkably, loss of one copy of Nlk rescues SBMA phenotypes in mice, including extending lifespan. We also investigated the molecular mechanisms by which NLK exerts its effects in SBMA. Specifically, we have found that NLK can phosphorylate the mutant polyglutamine-expanded AR, enhance its aggregation, and promote AR-dependent gene transcription by regulating AR-cofactor interactions. Furthermore, NLK modulates the toxicity of a mutant AR fragment via a mechanism that is independent of AR-mediated gene transcription. Our findings uncover a crucial role for NLK in controlling SBMA toxicity and reveal a novel avenue for therapy development in SBMA.

  13. In Vitro and In Vivo Modeling of Spinal and Bulbar Muscular Atrophy.

    Science.gov (United States)

    Pennuto, Maria; Basso, Manuela

    2016-03-01

    Spinal and bulbar muscular atrophy (SBMA) is an X-linked neuromuscular disease characterized by late-onset, progressive degeneration of lower motor neurons and skeletal muscle atrophy. SBMA is caused by expansions of a CAG trinucleotide repeat in the gene encoding the androgen receptor (AR). One striking feature of SBMA is sex specificity: SBMA fully manifests only in males, whereas females show subclinical or mild disease manifestations even when homozygous for the mutation. Since the identification of the mutation responsible for SBMA in 1991, several cell and animal models have been developed to recapitulate the main features of disease in vitro and in vivo. In this review, we describe the most widely used cellular and animal models of SBMA, highlighting advantages and disadvantages in the use of these models to gain mechanistic and therapeutic insights into SBMA.

  14. Clinical Trials in Spinal and Bulbar Muscular Atrophy-Past, Present, and Future.

    Science.gov (United States)

    Weydt, Patrick; Sagnelli, Anna; Rosenbohm, Angela; Fratta, Pietro; Pradat, Pierre-François; Ludolph, Albert C; Pareyson, Davide

    2016-03-01

    Spinal and Bulbar Muscular Atrophy (SBMA), also known as Kennedy's disease, is a rare adult-onset lower motor neuron disorder with a classic X-linked inheritance pattern. It is caused by the abnormal expansion of the CAG-repeat tract in the androgen receptor gene. Despite important progress in the understanding of the molecular pathogenesis and the availability of a broad set of model organisms, successful translation of these insights into clinical interventions remains elusive. Here we review the available information on clinical trials in SBMA and discuss the challenges and pitfalls that impede therapy development. Two important factors are the variability of the complex neuro-endocrinological phenotype and the comparatively low incidence of the disease that renders recruitment for clinical trials demanding. We propose that these challenges can be and need to be overcome by fostering closer collaborations between clinical research centers, the patient communities and the industry and non-industry sponsors of clinical trials.

  15. Differential distribution of striatal [{sup 123}I]{beta}-CIT in Parkinson`s disease and progressive supranuclear palsy, evaluated with single-photon emission tomography

    Energy Technology Data Exchange (ETDEWEB)

    Messa, C.; Volonte, M.A.; Fazio, F.; Zito, F.; Carpinelli, A.; D`Amico, A.; Rizzo, G.; Moresco, R.M.; Paulesu, E.; Franceschi, M.; Lucignani, G. [INB-CNR, University of Milan, H San Raffaele Institute of Milan (Italy)

    1998-09-01

    Functional imaging of the presynaptic dopaminergic activity using single-photon emission tomography (SPET) and iodine-123 labelled 2-{beta}-carboxymethoxy-3-{beta}-(4-iodophenyl)tropane ([{sup 123}I]{beta}-CIT) is important for the assessment of disease severity and progression in patients with Parkinson`s disease (PD). However, its capability to discriminate between different extrapyramidal disorders has not yet been assessed. The aim of this study was to evaluate the possibility of differentiating patients with PD and with progressive supranuclear palsy (PSP) by means of this method. The distribution of [{sup 123}I]{beta}-CIT in the basal ganglia was assessed in six normal subjects, 13 petients with PD and five patients with PSP in whom the disease was mild. SPET images were obtained 24{+-}2 h after i.v. injection of the tracer using a brain-dedicated system (CERASPECT). MR and SPET images were co-registered in four normal subjects and used to define a standard set of 16 circular regions of interest (ROIs) on the slice showing the highest striatal activity. The basal ganglia ROIs corresponded to (1) the head of caudate, (2) a region of transition between the head of caudate and the anterior putamen, (3) the anterior putamen and (4) the posterior putamen. A ratio of specific to non-displaceable striatal uptake was calculated normalising the activity of the basal ganglia ROIs to that of the occipital cortex (V3``). ANOVA revealed a global reduction of V3`` in all ROIs of PD and PSP patients compared with normal controls (P<0.0001). A Mann-Whitney U test showed that the difference between PD and PSP patients was statistically significant for the caudate region only (Z value: 2.6; P<0.01). By subtracting V3`` caudate values from those of the putamen, differentiation from PSP was possible in 10/13 PD patients. In conclusion, analysis of [{sup 123}I]{beta}-CIT distribution in discrete striatal areas provides information on the relative caudate-putamen damage, with

  16. Lower limb strength training in children with cerebral palsy – a randomized controlled trial protocol for functional strength training based on progressive resistance exercise principles

    Directory of Open Access Journals (Sweden)

    Verschuren Olaf

    2008-10-01

    Full Text Available Abstract Background Until recently, strength training in children with cerebral palsy (CP was considered to be inappropriate, because it could lead to increased spasticity or abnormal movement patterns. However, the results of recent studies suggest that progressive strength training can lead to increased strength and improved function, but low methodological quality and incomplete reporting on the training protocols hampers adequate interpretation of the results. This paper describes the design and training protocol of a randomized controlled trial to assess the effects of a school-based progressive functional strength training program for children with CP. Methods/Results Fifty-one children with Gross Motor Function Classification Systems levels I to III, aged of 6 to 13 years, were recruited. Using stratified randomization, each child was assigned to an intervention group (strength training or a control group (usual care. The strength training was given in groups of 4–5 children, 3 times a week, for a period of 12 weeks. Each training session focussed on four exercises out of a 5-exercise circuit. The training load was gradually increased based on the child's maximum level of strength, as determined by the 8 Repetition Maximum (8 RM. To evaluate the effectiveness of the training, all children were evaluated before, during, directly after, and 6 weeks after the intervention period. Primary outcomes in this study were gross motor function (measured with the Gross Motor Function Measure and functional muscle strength tests and walking ability (measured with the 10-meter, the 1-minute and the timed stair test. Secondary outcomes were lower limb muscle strength (measured with a 6 RM test, isometric strength tests, and a sprint capacity test, mobility (measured with a mobility questionnaire, and sport activities (measured with the Children's Assessment of Participation and Enjoyment. Spasticity and range of motion were assessed to evaluate any

  17. A Clinical Study on 1 Case of Patient with Bilateral Simultaneous Bell's Palsy Treated by Hominis Placenta Herbal-Acupuncture

    Directory of Open Access Journals (Sweden)

    Kwon, Kang

    2003-06-01

    Full Text Available Objective : This study was carried out to investigate the progress of bilateral simultaneous facial palsy and the effect of Hominis Placenta herbal-acupunture and the other oriental medical therapies. Methods : We used two methods to research the progress of disease. 1. Diagnosis - Facial muscle test, Taste test, Hearing test, Photographies, Lab-finding 2. Treatment - Acupuncture, Herbal-acupuncture, Electroacupuncture, Herb-med Results : The onset of Rt. facial palsy was earlier than Lt. facial palsy 3days. The reaction on the treatment of Rt. facial palsy was more dull than Lt. facial palsy. In terms of treatment period, Rt. facial palsy was very longer than Lt. facial palsy. Conclusion : According to the above results, we discoveried that Hominis Placenta herbal-acupunture and the other oriental medical therapies had good influence on the bilateral simultaneous facial palsy. In the future, we should endeavor to know influence between Rt. and Lt. face in case of bilateral simultaneous Bell's palsy.

  18. [Peripheral facial nerve palsy].

    Science.gov (United States)

    Pons, Y; Ukkola-Pons, E; Ballivet de Régloix, S; Champagne, C; Raynal, M; Lepage, P; Kossowski, M

    2013-06-01

    Facial palsy can be defined as a decrease in function of the facial nerve, the primary motor nerve of the facial muscles. When the facial palsy is peripheral, it affects both the superior and inferior areas of the face as opposed to central palsies, which affect only the inferior portion. The main cause of peripheral facial palsies is Bell's palsy, which remains a diagnosis of exclusion. The prognosis is good in most cases. In cases with significant cosmetic sequelae, a variety of surgical procedures are available (such as hypoglossal-facial anastomosis, temporalis myoplasty and Tenzel external canthopexy) to rehabilitate facial aesthetics and function.

  19. Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient.

    Science.gov (United States)

    Sagnelli, Anna; Scaioli, Vidmer; Piscosquito, Giuseppe; Salsano, Ettore; Dalla Bella, Eleonora; Gellera, Cinzia; Pareyson, Davide

    2015-10-01

    Spinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by a trinucleotide CAG repeat expansion in the androgen receptor gene; it is clinically characterized by adult-onset, slowly progressive weakness and atrophy mainly affecting proximal limb and bulbar muscles. Charcot-Marie-Tooth disease type 1A is an autosomal dominant polyneuropathy due to peripheral myelin protein 22 gene duplication and characterized by slowly progressive distal limb muscle weakness, atrophy and sensory loss with foot deformities. Here we report the co-occurrence of both neuromuscular genetic diseases in the same male patient. Difficulties in climbing stairs and jaw weakness were presenting symptoms consistent with SBMA. However, predominant distal weakness and bilateral pes cavus were rather suggestive of a hereditary polyneuropathy. The combination of two diseases, even if extremely rare, should be considered in the presence of atypical symptoms; in the case of genetic diseases this event may have important implications on family members' counseling.

  20. Neuropathology and Therapeutic Intervention in Spinal and Bulbar Muscular Atrophy

    Directory of Open Access Journals (Sweden)

    Haruhiko Banno

    2009-03-01

    Full Text Available Spinal and bulbar muscular atrophy (SBMA is a hereditary motor neuron disease caused by the expansion of a polyglutamine tract in the androgen receptor (AR. The histopathological finding in SBMA is loss of lower motor neurons in the anterior horn of the spinal cord as well as in the brainstem motor nuclei. Animal studies have revealed that the pathogenesis of SBMA depends on the level of serum testosterone, and that androgen deprivation mitigates neurodegeneration through inhibition of nuclear accumulation of the pathogenic AR. Heat shock proteins, ubiquitin-proteasome system and transcriptional regulation are also potential targets of therapy development for SBMA.

  1. Acute sixth nerve palsy in a young man, beware of the 'red herring'.

    LENUS (Irish Health Repository)

    O'Neill, E C

    2012-02-01

    BACKGROUND: Cranial nerve palsies has several etiologies including vascular insufficiency, neoplasm, trauma and inflammation. Isolated sixth nerve palsy is an extremely rare presenting feature of leukemia. AIM: We describe an unusual ocular presentation of a bilateral progressive sixth nerve palsy in a young male with a preceding head injury. CONCLUSION: Acquired sixth nerve palsies in young adults may be due to trauma but in the absence of a definitive history other systemic processes must be outruled. We describe a case of bilateral sixth nerve palsy in a patient with ALL with no obvious CNS involvement. Potential etiological mechanisms are discussed.

  2. The treatment progress and prevention introduction of cerebral palsy%小儿脑性瘫痪的防治进展

    Institute of Scientific and Technical Information of China (English)

    卢晓妹; 杨李

    2010-01-01

    脑性瘫痪(cerebral palsy,CP,以下简称脑瘫)是以非进展性中枢运动障碍和姿势异常为主要表现的临床综合征,本文就脑性瘫痪的治疗进展和预防进行复习并综述.

  3. Worster-Drought syndrome, a mild tetraplegic perisylvian cerebral palsy. Review of 47 cases.

    Science.gov (United States)

    Clark, M; Carr, L; Reilly, S; Neville, B G

    2000-10-01

    A retrospective case-note analysis was undertaken of 47 children with a congenital upper motor neurone bulbar palsy (excluding pure speech dyspraxia) to clarify the phenotype of Worster-Drought syndrome (WDS) and to record its associated features and complications. The results revealed that the study children had significant bulbar problems (with 80% still needing a modified diet and a similar number using augmentative communication methods at last review). There were also high rates of predictable bulbar complications (86% had dribbling, 60% had glue ear, gastro-oesophageal reflux in 40%, history of poor nutrition in 40% and aspiration in 40%). Most of the children had additional complex impairments (91% had mild pyramidal tetraplegia, 81% learning difficulties, 60% congenital defects, 41% neuropsychiatric problems and 28% epilepsy). Over half of the children had significant medical problems in the first year, but mean age at diagnosis was 6 years. There were no obvious causes in pregnancy or birth. Six children had a family history of WDS and 32% (12/37) had abnormal neuroimaging including five with bilateral perisylvian polymicrogyria. In our experience, WDS is not uncommon, is relatively easily diagnosed and is crucial not to miss as the management of these children's multiple impairments is complex and requires a careful team approach. WDS falls clearly within the cerebral palsies as a syndrome that includes motor impairment arising from static damage to the brain in early life. The common presence of cognitive, behavioural and seizure impairments strongly supports the cerebral cortical (presumably perisylvian) localization. Its core elements are a suprabulbar paresis, a mild spastic tetraplegia and a significant excess of cognitive and behavioural impairments and epilepsy. The complete overlap in phenotype between WDS and the bilateral perisylvian syndrome leads us to propose that they are the same condition. WDS is startlingly absent from epidemiological

  4. Progress in the animal model of cerebral palsy%脑性瘫痪动物模型的研究进展

    Institute of Scientific and Technical Information of China (English)

    黄会芝

    2011-01-01

    Cerebral palsy is a major cause of severe chronic disability in children. Experimental models aim to replicate one or more features of cerebral palsy in developing animals. These models are as heterogeneous as the disorder itself, such as timing.and mechanism of injury (stroke, infection, congenital malformation or asphyxia),target of injury (white matter or neurons) or function outcome. This review is to summarize different experimental models in cerebral palsy.%脑性瘫痪(脑瘫)是导致儿童严重慢性残疾的重要原因。应用动物模型的目的是在动物身上复制一种或更多的脑瘫特征来进行研究,而这些模型和疾患本身一样是具有异质性的,如损伤发作的时间和机制(中风、感染、先天畸形或窒息)、损伤的靶点(白质或神经元)或功能结果等。该文对不同的脑瘫动物模型作一综述。

  5. Clinical practice: swallowing problems in cerebral palsy.

    NARCIS (Netherlands)

    Erasmus, C.E.; Hulst, K. van; Rotteveel, J.J.; Willemsen, M.A.A.P.; Jongerius, P.H.

    2012-01-01

    Cerebral palsy (CP) is the most common physical disability in early childhood. The worldwide prevalence of CP is approximately 2-2.5 per 1,000 live births. It has been clinically defined as a group of motor, cognitive, and perceptive impairments secondary to a non-progressive defect or lesion of the

  6. Diagnosis, treatment, and prevention of cerebral palsy.

    Science.gov (United States)

    O'Shea, Thomas Michael

    2008-12-01

    Cerebral palsy is the most prevalent cause of persisting motor function impairment with a frequency of about 1/500 births. In developed countries, the prevalence rose after introduction of neonatal intensive care, but in the past decade, this trend has reversed. A recent international workshop defined cerebral palsy as "a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to non-progressive disturbances that occurred in the developing fetal or infant brain." In a majority of cases, the predominant motor abnormality is spasticity; other forms of cerebral palsy include dyskinetic (dystonia or choreo-athetosis) and ataxic cerebral palsy. In preterm infants, about one-half of the cases have neuroimaging abnormalities, such as echolucency in the periventricular white matter or ventricular enlargement on cranial ultrasound. Among children born at or near term, about two-thirds have neuroimaging abnormalities, including focal infarction, brain malformations, and periventricular leukomalacia. In addition to the motor impairment, individuals with cerebral palsy may have sensory impairments, cognitive impairment, and epilepsy. Ambulation status, intelligence quotient, quality of speech, and hand function together are predictive of employment status. Mortality risk increases incrementally with increasing number of impairments, including intellectual, limb function, hearing, and vision. The care of individuals with cerebral palsy should include the provision of a primary care medical home for care coordination and support; diagnostic evaluations to identify brain abnormalities, severity of neurologic and functional abnormalities, and associated impairments; management of spasticity; and care for associated problems such as nutritional deficiencies, pain, dental care, bowel and bladder continence, and orthopedic complications. Current strategies to decrease the risk of cerebral palsy include interventions to

  7. [Development of therapeutics for spinal and bulbar muscular atrophy (SBMA)].

    Science.gov (United States)

    Sobue, Gen

    2003-11-01

    Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a hereditary motor neuron disease that affects males, caused by the expansion of a polyglutamine (polyQ) tract in androgen receptor (AR). Female carriers are usually asymptomatic. The transgenic mouse (Tg) model carrying a full-length human AR with expanded polyQ has significant gender-related motor impairment. This phenotype is inhibited by castration, which prevents nuclear translocation of mutant AR. Leuprorelin, an LHRH agonist that reduces testosterone release from the testis, also rescues motor dysfunction and nuclear accumulation of mutant AR in the male Tg. Over-expression of a molecular chaperone HSP70, which renatures misfolded mutant AR, ameliorates neuromuscular phenotypes of the Tg by reducing nuclear-localized mutant AR. HSP70 appears to enhance the degradation of mutant AR via ubiquitin-proteasome pathway. These experimental approaches indicate the possibility of clinical application of drugs, such as leuprorelin, for SBMA patients.

  8. Silencing neuronal mutant androgen receptor in a mouse model of spinal and bulbar muscular atrophy.

    Science.gov (United States)

    Sahashi, Kentaro; Katsuno, Masahisa; Hung, Gene; Adachi, Hiroaki; Kondo, Naohide; Nakatsuji, Hideaki; Tohnai, Genki; Iida, Madoka; Bennett, C Frank; Sobue, Gen

    2015-11-01

    Spinal and bulbar muscular atrophy (SBMA), an adult-onset neurodegenerative disease that affects males, results from a CAG triplet repeat/polyglutamine expansions in the androgen receptor (AR) gene. Patients develop progressive muscular weakness and atrophy, and no effective therapy is currently available. The tissue-specific pathogenesis, especially relative pathological contributions between degenerative motor neurons and muscles, remains inconclusive. Though peripheral pathology in skeletal muscle caused by toxic AR protein has been recently reported to play a pivotal role in the pathogenesis of SBMA using mouse models, the role of motor neuron degeneration in SBMA has not been rigorously investigated. Here, we exploited synthetic antisense oligonucleotides to inhibit the RNA levels of mutant AR in the central nervous system (CNS) and explore its therapeutic effects in our SBMA mouse model that harbors a mutant AR gene with 97 CAG expansions and characteristic SBMA-like neurogenic phenotypes. A single intracerebroventricular administration of the antisense oligonucleotides in the presymptomatic phase efficiently suppressed the mutant gene expression in the CNS, and delayed the onset and progression of motor dysfunction, improved body weight gain and survival with the amelioration of neuronal histopathology in motor units such as spinal motor neurons, neuromuscular junctions and skeletal muscle. These findings highlight the importance of the neurotoxicity of mutant AR protein in motor neurons as a therapeutic target.

  9. [Disease-modifying therapy for spinal and bulbar muscular atrophy (SBMA)].

    Science.gov (United States)

    Suzuki, Keisuke; Banno, Haruhiko; Katsuno, Masahisa; Adachi, Hiroaki; Tanaka, Fumiaki; Sobue, Gen

    2012-03-01

    Neurodegenerative diseases have long been construed as incurable disorders. However, therapeutic developments for these diseases are now facing a turning point, that is, analyses of cellular and animal models have provided insights into the pathogenesis of neurodegenerative diseases and have indicated rational therapeutic approaches. Spinal and bulbar muscular atrophy (SBMA) is an adult-onset motor neuron disease characterized by slowly progressive muscle weakness and atrophy. This disease is caused by the expansion of a trinucleotide CAG repeat within the androgen receptor (AR) gene. The results of animal studies suggest that testosterone-dependent nuclear accumulation of the pathogenic AR protein is a fundamental step in the neurodegenerative process. Androgen deprivation with a luteinizing hormone-releasing hormone (LHRH) analogue suppresses the toxicity of the mutant AR in animal models of SBMA. In a phase 3 trial, 48 weeks of treatment with leuprorelin acetate, an LHRH analogue, tended to improve swallowing function in a subgroup of SBMA patients with disease duration less than 10 years but did not significantly affect the total population. Disease duration might influence the efficacy of leuprorelin acetate, and therefore, a further clinical trial that involves sensitive outcome measures is in progress. Advances in basic and clinical research on SBMA are now paving the way for the clinical application of pathogenesis-targeting therapies. To optimize translational research related to the process of testing candidate therapies in humans, it is important to identify biomarkers that can be used as surrogate endpoints in clinical trials for neurodegenerative diseases.

  10. Facial nerve palsy due to birth trauma

    Science.gov (United States)

    Seventh cranial nerve palsy due to birth trauma; Facial palsy - birth trauma; Facial palsy - neonate; Facial palsy - infant ... this condition. Some factors that can cause birth trauma (injury) include: Large baby size (may be seen ...

  11. Progression of knee joint kinematics in children with cerebral palsy with and without rectus femoris transfers: a long-term follow up.

    Science.gov (United States)

    Moreau, Noelle; Tinsley, Suzanne; Li, Li

    2005-10-01

    The purpose of this study was to compare long-term outcomes of multi-level surgery with and without rectus femoris transfer (RFT) in a group of children with cerebral palsy. Forty-one subjects with a diagnosis of cerebral palsy were divided into a RFT group (28 subjects with 50 sides) and non-RFT group (13 subjects with 22 sides). The study protocol included pre-operative gait analysis, multi-level orthopedic surgical intervention, one year post-operative gait analysis, and three year or greater post-operative gait analysis. All participants received inpatient physical therapy for 2-12 weeks either following surgery or following a period of immobilization, depending on surgical procedures performed. Results showed improved peak knee flexion during swing phase (PKFS) for the RFT group one year after surgery. The deviation from normal in PKFS in the RFT group improved, on average, from seven to five degrees. The deviation from normal in PKFS in the non-RFT group increased approximately four degrees in the same period of time. The knee flexion swing range (KFSR) of the RFT group increased dramatically by 11 degrees after surgery, where no significant KFSR changes observed in the non-RFT group. Those parameters maintained relatively stable from one to three years post surgery for both groups. These observations support our hypothesis that improvements after RFT surgery persist over time, counteracting the negative effects of growth and time.

  12. [Molecular-targeted therapy for spinal and bulbar muscular atrophy (SBMA)].

    Science.gov (United States)

    Sobue, Gen

    2010-11-01

    Spinal and bulbar muscular atrophy (SBMA) is an adult-onset neurodegenerative disease characterized by slowly progressive muscle weakness and atrophy. The cause of SBMA is the expansion of a trinucleotide CAG repeat, which encodes the polyglutamine tract, within the first exon of the androgen receptor (AR) gene. SBMA exclusively occurs in males, whereas both heterozygous and homozygous females are usually asymptomatic. In a transgenic mouse model of SBMA, neuromuscular symptoms are markedly pronounced in the male mice, but far less severe in the female counterparts. Androgen deprivation through both surgical and chemical castration substantially suppresses nuclear accumulation of the pathogenic AR, and thereby improves symptoms in the male mice. Since the nuclear translocation of AR is ligand-dependent, testosterone appears to show toxic effects by accelerating nuclear translocation of the pathogenic AR. In a phase 2 clinical trial, 12-month treatment with leuprorelin significantly diminished the serum level of creatine kinase, and suppressed nuclear accumulation of the pathogenic AR. The ligand-dependent accumulation of the pathogenic AR, an initial step in the neurodegenerative process in SBMA, is followed by several downstream molecular events such as transcriptional dysregulation, axonal transport disruption, and mitochondrial insufficiency, indicating that both upstream and downstream molecular abnormalities should be corrected.

  13. Convenient diagnosis of spinal and bulbar muscular atrophy using a microchip electrophoresis system.

    Science.gov (United States)

    Maruyama, Hirofumi; Morino, Hiroyuki; Izumi, Yuishin; Noda, Kouichi; Kawakami, Hideshi

    2013-01-01

    Spinal and bulbar muscular atrophy (SBMA) is a slowly progressive motor neuron disease. Lower and primary sensory neuronopathy is one of the major neuropathological changes that occurs in SBMA. However, many sings are common to SBMA and amyotrophic lateral sclerosis (ALS), and SBMA patients are sometimes diagnosed with ALS. Leuprorelin may be used to treat SBMA, but an accurate diagnosis is necessary for treatment and care. Genetic diagnosis can be performed to detect the expansion of a CAG repeat in the androgen receptor gene in SBMA patients. To screen for this expansion, we used a microchip electrophoresis system. The discrepancy between the actual repeat length and that found by the microchip electrophoresis system was roughly dependent on the repeat length. The mean difference was -6.8 base pairs (bp) in SBMA patients, -0.30 bp in controls. The microchip electrophoresis results were approximately 2 CAG repeats shorter than the actual repeat length in SBMA patients. Using this method, we screened our ALS samples (31 were familial, 271 were sporadic): 4 subjects were diagnosed with SBMA; 2 had familial ALS, and 2 had sporadic ALS (0.7%). The microchip electrophoresis system is semi-quantitative, convenient and useful for screening a large number of samples.

  14. Neuromuscular junctions are pathological but not denervated in two mouse models of spinal bulbar muscular atrophy.

    Science.gov (United States)

    Poort, Jessica E; Rheuben, Mary B; Breedlove, S Marc; Jordan, Cynthia L

    2016-09-01

    Spinal bulbar muscular atrophy (SBMA) is a progressive, late onset neuromuscular disease causing motor dysfunction in men. While the morphology of the neuromuscular junction (NMJ) is typically affected by neuromuscular disease, whether NMJs in SBMA are similarly affected by disease is not known. Such information will shed light on whether defective NMJs might contribute to the loss of motor function and represent a potential therapeutic target for treating symptoms of SBMA. To address this gap in information, the morphology of NMJs was examined in two mouse models of SBMA, a myogenic model that overexpresses wildtype androgen receptor (AR) exclusively in muscle fibres and a knockin (KI) model expressing a humanized mutant AR gene. The tripartite motor synapse consisting of motor nerve terminal, terminal Schwann cells (tSCs) and postsynaptic specialization were visualized and analysed using confocal microscopy. Counter to expectation, we found no evidence of denervation in either model, but junctions in both models show pathological fragmentation and an abnormal synaptophysin distribution consistent with functionally weak synapses. Neurofilament accumulations were observed only in the myogenic model, even though axonal transport dysfunction is characteristic of both models. The ultrastructure of NMJs revealed additional pathology, including deficits in docked vesicles presynaptically, wider synaptic clefts, and simpler secondary folds postsynaptically. The observed pathology of NMJs in diseased SBMA mice is likely the morphological correlates of defects in synaptic function which may underlie motor impairments associated with SBMA.

  15. Contractile dysfunction in muscle may underlie androgen-dependent motor dysfunction in spinal bulbar muscular atrophy.

    Science.gov (United States)

    Oki, Kentaro; Halievski, Katherine; Vicente, Laura; Xu, Youfen; Zeolla, Donald; Poort, Jessica; Katsuno, Masahisa; Adachi, Hiroaki; Sobue, Gen; Wiseman, Robert W; Breedlove, S Marc; Jordan, Cynthia L

    2015-04-01

    Spinal and bulbar muscular atrophy (SBMA) is characterized by progressive muscle weakness linked to a polyglutamine expansion in the androgen receptor (AR). Current evidence indicates that mutant AR causes SBMA by acting in muscle to perturb its function. However, information about how muscle function is impaired is scant. One fundamental question is whether the intrinsic strength of muscles, an attribute of muscle independent of its mass, is affected. In the current study, we assess the contractile properties of hindlimb muscles in vitro from chronically diseased males of three different SBMA mouse models: a transgenic (Tg) model that broadly expresses a full-length human AR with 97 CAGs (97Q), a knock-in (KI) model that expresses a humanized AR containing a CAG expansion in the first exon, and a Tg myogenic model that overexpresses wild-type AR only in skeletal muscle fibers. We found that hindlimb muscles in the two Tg models (97Q and myogenic) showed marked losses in their intrinsic strength and resistance to fatigue, but were minimally affected in KI males. However, diseased muscles of all three models showed symptoms consistent with myotonic dystrophy type 1, namely, reduced resting membrane potential and deficits in chloride channel mRNA. These data indicate that muscle dysfunction is a core feature of SBMA caused by at least some of the same pathogenic mechanisms as myotonic dystrophy. Thus mechanisms controlling muscle function per se independent of mass are prime targets for SBMA therapeutics.

  16. Bulbar Paralysis and Facial Paralysis due to Metastatic Hepatocellular Carcinoma: A Case Report and Literature Review.

    Science.gov (United States)

    Liu, Min; Liu, Shixin; Liu, Bailong; Liu, Bin; Guo, Liang; Wang, Xu; Wang, Qiang; Yang, Shuo; Dong, Lihua

    2016-01-01

    Skull-base metastasis (SBM) from hepatocellular carcinoma (HCC) is extremely rare, and multiple cranial nerve paralysis due to SBM from HCC is also rare. We report a case of bulbar and facial paralysis due to SBM from HCC. A 46-year-old Chinese man presented with a hepatic right lobe lesion that was detected during a routine physical examination. After several failed attempts to treat the primary tumor and bone metastases, neurological examination revealed left VII, IX, X, and XI cranial nerve paralysis. Computed tomography of the skull base subsequently revealed a large mass that had destroyed the left occipital and temporal bones and invaded the adjacent structure. After radiotherapy (27 Gy, 9 fractions), the patient experienced relief from his pain, and the cranial nerve dysfunction regressed. However, the patient ultimately died, due to the tumor's progression. Radiotherapy is usually the best option to relieve pain and achieve regression of cranial nerve dysfunction in cases of SBM from HCC, although early treatment is needed to achieve optimal outcomes. The present case helps expand our understanding regarding this rare metastatic pathway and indicates that improved awareness of SBM in clinical practice can help facilitate timely and appropriate treatment.

  17. Employees with Cerebral Palsy

    Science.gov (United States)

    ... problems in the muscles or nerves. Instead, faulty development or damage to motor areas in the brain disrupt the brain's ability to adequately control movement and posture (United Cerebral Palsy, 2010). "Cerebral" refers to the ...

  18. Founder effect in spinal and bulbar muscular atrophy (SBMA).

    Science.gov (United States)

    Tanaka, F; Doyu, M; Ito, Y; Matsumoto, M; Mitsuma, T; Abe, K; Aoki, M; Itoyama, Y; Fischbeck, K H; Sobue, G

    1996-09-01

    We analyzed the polymorphic (CAG)n and (GGC)n repeats of the androgen receptor gene in 113 unrelated X-linked spinal and bulbar muscular atrophy (SBMA) X chromosomes and 173 control X chromosomes in Japanese males. The control chromosomes had an average CAG repeat number of 21 +/- 3 with a range from 14-32 repeat units, and SBMA chromosomes had a range from 40-55 with a median of 47 +/- 3 copies. The control chromosomes had seven different alleles of the (GGC)n repeat with the range of 11 to 17; the most frequent size of (GGC)n was 16 (79%), while (GGC)17 was very rare (1%). However, in SBMA chromosomes only two alleles were seen; the most frequent size of (GGC)n was 16 (61%) followed by 17 (39%). (GGC)n size distribution was significantly different between SBMA and control chromosomes (P SBMA patients, which suggests that a founder effect makes a more significant contribution to generation of Japanese SBMA chromosomes than new mutations.

  19. Microcirculation changes of bulbar conjunctiva at primary pterygium

    Directory of Open Access Journals (Sweden)

    A. V. Petrayevsky

    2014-07-01

    Full Text Available Purpose. To reveal microcirculation changes in nasal part of bulbar conjunctiva at various stages of primary pterygium formation using fluorescent angiography.Methods. 10 eyes (10 patients with pinguecula, 15 eyes (14 patients with primary pterygium were investigated. As a control group 10 eyes (10 patients without pathological changes in nasal part of conjunctiva were investigated. Biomicroscopy and anterior segment fluorescent angiography were performed for all patients.Results. Severe changes of microcirculation in nasal part of conjunctiva in patients with pinguecula and pterygium were revealed in comparison with a control group. The defect of terminal limbal arcades confirmed by fluorescent angiography can be a sign of transformation of pinguecula into pterygium. Primary pterygium gets blood supply from posterior conjunctival arteries, capillary network of a semilunar fold and also from returnable branches of anterior ciliary arteries. Neovascularization going from a semilunar fold to a body of pterygium is one of possible components in pathogenesis of pterygium.Conclusion. The obtained data testify about sign of transformation of pinguecula into pterygium, blood supply sources of pterygium and a role of neogenic vessels from a capillary network of a semilunar fold in pathogenesis of this disease.

  20. Nanomedicine in cerebral palsy

    Directory of Open Access Journals (Sweden)

    Balakrishnan B

    2013-11-01

    Full Text Available Bindu Balakrishnan,1 Elizabeth Nance,1 Michael V Johnston,2 Rangaramanujam Kannan,3 Sujatha Kannan1 1Department of Anesthesiology and Critical Care Medicine, Johns Hopkins University; Baltimore, MD, USA; 2Department of Neurology and Pediatrics, Kennedy Krieger Institute, Baltimore, MD, USA; 3Department of Ophthalmology, Center for Nanomedicine, Johns Hopkins University, Baltimore, MD, USA Abstract: Cerebral palsy is a chronic childhood disorder that can have diverse etiologies. Injury to the developing brain that occurs either in utero or soon after birth can result in the motor, sensory, and cognitive deficits seen in cerebral palsy. Although the etiologies for cerebral palsy are variable, neuroinflammation plays a key role in the pathophysiology of the brain injury irrespective of the etiology. Currently, there is no effective cure for cerebral palsy. Nanomedicine offers a new frontier in the development of therapies for prevention and treatment of brain injury resulting in cerebral palsy. Nanomaterials such as dendrimers provide opportunities for the targeted delivery of multiple drugs that can mitigate several pathways involved in injury and can be delivered specifically to the cells that are responsible for neuroinflammation and injury. These materials also offer the opportunity to deliver agents that would promote repair and regeneration in the brain, resulting not only in attenuation of injury, but also enabling normal growth. In this review, the current advances in nanotechnology for treatment of brain injury are discussed with specific relevance to cerebral palsy. Future directions that would facilitate clinical translation in neonates and children are also addressed. Keywords: dendrimer, cerebral palsy, neuroinflammation, nanoparticle, neonatal brain injury, G4OH-PAMAM

  1. Bell's Palsy in Children: Role of the School Nurse in Early Recognition and Referral

    Science.gov (United States)

    Gordon, Shirley C.

    2008-01-01

    Bell's palsy is the most common condition affecting facial nerves. It is an acute, rapidly progressing, idiopathic, unilateral facial paralysis that is generally self-limiting and non-life threatening that occurs in all age groups (Okuwobi, Omole, & Griffith, 2003). The school nurse may be the first person to assess facial palsy and muscle…

  2. [A case of slowly progressive type 1 diabetes mellitus developing myeloperoxidase-specific anti-neutrophil cytoplasmic antibody-associated vasculitis with hypertrophic pachymeningitis manifesting as multiple cranial nerve palsy].

    Science.gov (United States)

    Kurihara, Yuko; Oku, Kayo; Suzuki, Atsushi; Ohsone, Yasuo; Handa, Michiko; Okano, Yutaka

    2011-01-01

    We report a 63-year-old man with a 35-year history of slowly progressive type 1 diabetes mellitus (SPIDDM), complicated with myeloperoxidase-specific anti-neutrophil cytoplasmic antibody (MPO-ANCA)-associated vasculitis presenting alveolar hemorrhage and pachymeningitis. The patient was first diagnosed as having DM at age of 28 years old and deteriorated secretion of insulin and the typical clinical course led us to the diagnosis of SPIDDM. When he was 58 years old, he suffered from fever, headache, and alveolar hemorrhage. He was diagnosed as having MPO-ANCA associated vasculitis based on a high titer of MPO-ANCA and histological findings of lung biopsy. Treatment with steroid pulse therapy, followed by oral prednisolone and oral cyclophosohamide, resulted in clinical improvement. Five years later, he complained of double vision. A gadolinium-enhanced magnetic resonance imaging (MRI) study of the brain showed normal. Two months later, he developed right cranial nerve V~XII palsy. A second MRI study revealed thickening of the right temporal region and cerebellar dura mater, leading us to the diagnosis of hypertrophic pachymeningitis. He responded well to oral prednisolone (50 mg/day) and intravenous cyclophosohamide (500 mg). This is the first case report of SPIDDM complicated with MPO-ANCA-associated vasculitis, manifesting as alveolar hemorrhage and hypertrophic pachymeningitis.

  3. Further diffusion tensor imaging contribution in horizontal gaze palsy and progressive scoliosis Contribuição adicional das imagens por tensores de difusão em paralisia do olhar conjugado horizontal associada a escoliose progressiva

    Directory of Open Access Journals (Sweden)

    Maria Conceptión García Otaduy

    2009-12-01

    Full Text Available In two siblings with clinical diagnosis of horizontal gaze palsy associated with progressive scoliosis (HGPPS we could demonstrate by diffusion tensor imaging: (1 An anterior displacement of the transverse pontine fibers; (2 Posterior clumping of the corticospinal, medial lemniscus and central tegmental tracts and of the medial and dorsal longitudinal fasciculi complex; (3 Absent decussation of superior cerebellar peduncle. Those findings can contribute as surrogate markers for the diagnosis.Em dois irmãos com diagnóstico clínico de paralisia do olhar conjugado horizontal associada a escoliose progressiva, foi possível determinar através de imagens por tensores de difusão: (1 Deslocamento anterior das fibras pontinas transversas; (2 Agrupamento posterior do trato córtico-espinhal, lemnisco medial e trato tegmentar central e complexos dos fascículos longitudinais medial e dorsal; (3 Ausência da decussação dos pedúnculos cerebelares superiores. Tais achados podem contribuir como marcadores para o diagnóstico.

  4. Rapidly worsening bulbar symptoms in a patient with spinobulbar muscular atrophy

    Directory of Open Access Journals (Sweden)

    Montserrat Diaz-Abad

    2013-12-01

    Full Text Available X-linked spinobulbar muscular atrophy (Kennedy’s disease affects muscles and motor neurons, manifesting as weakness and wasting of bulbar, facial, and proximal limb muscles due to loss of anterior horn cells in the brain and spinal cord. We present the case of a patient with X-linked spinobulbar muscular atrophy with rapidly worsening bulbar symptoms caused by laryngopharyngeal irritation associated with a viral upper respiratory tract infection, seasonal allergies and laryngopharyngeal reflux, who dramatically improved with multimodality therapy.

  5. A unique case of isolated sebaceous adenoma of the bulbar conjunctiva

    Directory of Open Access Journals (Sweden)

    Hatice Deniz Ilhan

    Full Text Available ABSTRACT Our patient was a 34 year-old male who presented with a painless conjunctival mass that had developed 3 months before his first visit. On performing slit-lamp biomicroscopy, a lobulated pink-yellowish solid mobile mass was observed on the nasal bulbar conjunctival surface of his left eye. The tumor was excised, and histopathologic examination of the tumor revealed a sebaceous adenoma. Systemic examination was normal. No recurrence was observed during the 24-month follow-up period. Sebaceous adenoma of the bulbar conjunctiva is an extremely rare benign tumor, which may be observed to be isolated in the absence of malignancy.

  6. Late results of bulbar trigeminal tractotomy. Some remarks on recovery of sensibility.

    Science.gov (United States)

    Moffie, D

    1971-06-01

    Re-examination of eight patients in whom bulbar trigeminal tractotomy had been performed 13 to 15 years previously showed that four had no complaints, and the other four had only very slight complaints about pain. In two patients a Spiller-Frazier operation had been performed after tractotomy, in two patients exairesis of the infraorbital or supraorbital nerve had been done. As bulbar trigeminal tractotomy is a major operation and the risk of recurrence is substantial, the indications for this type of operation have to remain very restricted. Theories to explain the recovery of sensation are discussed. It is possible that regeneration of transected fibres is responsible for the loss of analgesia.

  7. Natural history of spinal and bulbar muscular atrophy (SBMA): a study of 223 Japanese patients.

    Science.gov (United States)

    Atsuta, Naoki; Watanabe, Hirohisa; Ito, Mizuki; Banno, Haruhiko; Suzuki, Keisuke; Katsuno, Masahisa; Tanaka, Fumiaki; Tamakoshi, Akiko; Sobue, Gen

    2006-06-01

    Spinal and bulbar muscular atrophy (SBMA) is an adult-onset motoneuron disease caused by a CAG-repeat expansion in the androgen receptor (AR) gene and for which no curative therapy exists. However, since recent research may provide opportunities for medical treatment, information concerning the natural history of SBMA would be beneficial in planning future clinical trials. We investigated the natural course of SBMA as assessed by nine activities of daily living (ADL) milestones in 223 Japanese SBMA patients (mean age at data collection = 55.2 years; range = 30-87 years) followed from 1 to 20 years. All the patients were diagnosed by genetic analysis. Hand tremor was an early event that was noticed at a median age of 33 years. Muscular weakness occurred predominantly in the lower limbs, and was noticed at a median age of 44 years, followed by the requirement of a handrail to ascend stairs at 49, dysarthria at 50, dysphagia at 54, use of a cane at 59 and a wheelchair at 61 years. Twenty-one of the patients developed pneumonia at a median age of 62 and 15 of them died at a median age of 65 years. The most common cause of death in these cases was pneumonia and respiratory failure. The ages at onset of each ADL milestone were strongly correlated with the length of CAG repeats in the AR gene. However CAG-repeat length did not correlate with the time intervals between each ADL milestone, suggesting that although the onset age of each ADL milestone depends on the CAG-repeat length in the AR gene, the rate of disease progression does not. The levels of serum testosterone, an important triggering factor for polyglutamine-mediated motoneuron degeneration, were maintained at relatively high levels even at advanced ages. These results provide beneficial information for future clinical therapeutic trials, although further detailed prospective studies are also needed.

  8. Clinical rehabilitation research progress of visual and auditory disorders in children with cerebral palsy%脑性瘫痪合并视听觉障碍的临床康复研究进展

    Institute of Scientific and Technical Information of China (English)

    李静

    2016-01-01

    脑性瘫痪是一组以运动障碍和姿势异常为核心表现的发育障碍综合征,可伴有言语障碍、智力障碍、视听觉障碍和行为障碍等.因其高发病率与致残率,脑性瘫痪现已成为全世界需共同攻克的难题.目前国内的研究主要是针对运动障碍、言语障碍和智力障碍,而对感知觉障碍缺乏足够的重视.感知觉障碍中发病率最高的是视听觉障碍,且后者对儿童运动、认知、语言、交流、心理等方面发育均存在影响.该文重点综述脑性瘫痪合并视听觉障碍的发病率、表现形式、对脑性瘫痪儿童发育的影响以及康复治疗进展,以提高视听觉障碍的重视度,并为促进该类儿童的全面康复奠定基础.%Cerebral palsy is a group of developmental disorder syndromes with the core performance of movement disorders and abnormal posture,often accompanied with language barriers,mental retardation,visual and auditory disorders and behavioral disorders.Because of its high morbidity and disability,its clinical rehabilitation has become a worldwide issue requiring the global cooperation.Currently,domestic clinical rehabilitation research mostly focuses on the treatment to the dyskinesia,language and mental disorders,while perception disorder has not been paid enough attention.The highest incidence of perception disorder is visual and auditory disorder.Visual and auditory disorder has an impact on children's overall development,which consist of motor,cognitive,language,communication,and psychological development.This paper summarizes the feature of visual and auditory disorders in children with cerebral palsy,including its incidence rate,the manifestation,the impact on children's development and the progress in rehabilitation therapy,to call attention on the visual and auditory disorders,and to lay the foundation for promoting the comprehensive rehabilitation in children with cerebral palsv.

  9. Assessment of the hand in cerebral palsy

    Directory of Open Access Journals (Sweden)

    Praveen Bhardwaj

    2011-01-01

    Full Text Available Cerebral palsy is the musculoskeletal manifestation of a nonprogressive central nervous system lesion that usually occurs due to a perinatal insult to the brain. Though the cerebral insult is static the musculoskeletal pathology is progressive. Some patients with cerebral palsy whose hands are affected can be made better by surgery. The surgical procedures as such are not very technically demanding but the assessment, decision-making, and selecting the procedures for the given patient make this field challenging. When done well, the results are rewarding not only in terms of improvement in hand function but also in appearance and personal hygiene, which leads to better self-image and permits better acceptance in the society. This article focuses on the clinical examination, patient selection, and decision-making while managing these patients.

  10. Clinical practice: swallowing problems in cerebral palsy.

    Science.gov (United States)

    Erasmus, Corrie E; van Hulst, Karen; Rotteveel, Jan J; Willemsen, Michel A A P; Jongerius, Peter H

    2012-03-01

    Cerebral palsy (CP) is the most common physical disability in early childhood. The worldwide prevalence of CP is approximately 2-2.5 per 1,000 live births. It has been clinically defined as a group of motor, cognitive, and perceptive impairments secondary to a non-progressive defect or lesion of the developing brain. Children with CP can have swallowing problems with severe drooling as one of the consequences. Malnutrition and recurrent aspiration pneumonia can increase the risk of morbidity and mortality. Early attention should be given to dysphagia and excessive drooling and their substantial contribution to the burden of a child with CP and his/her family. This review displays the important functional and anatomical issues related to swallowing problems in children with CP based on relevant literature and expert opinion. Furthermore, based on our experience, we describe a plan for approach of investigation and treatment of swallowing problems in cerebral palsy.

  11. Suprascapular nerve palsy.

    Science.gov (United States)

    Moskowitz, E; Rashkoff, E S

    1989-11-01

    Isolated traumatic suprascapular nerve palsy without associated fracture is a rare occurrence. Localized segmental muscle atrophy limited to the supraspinatus and infraspinatus muscles associated with weakness in initiating abduction and in external rotation of the shoulder should suggest the diagnosis. Electromyography will confirm the diagnosis by excluding nerve root and brachial plexus involvement with denervation potentials limited to the supraspinatus and infraspinatus muscles.

  12. TANG's Scalp Acupuncture and Infantile Cerebral Palsy:Case Reports of 34 Cases

    Institute of Scientific and Technical Information of China (English)

    秦秀娣; 韩丑萍

    2008-01-01

    @@ Cerebral palsy (CP) refers to non-progressive motor disorder resulting from a group of cerebral lesions. It can occur as a result of motor center injuries before, during or after birth and subsequently non-progressive central motor dysfunction, followed by mental retardation and motor impairment of the four limbs. The author treated 34 cases of cerebral palsy with the scalp acupuncture of Doctor TANG Song-yan. The report is now as follows.

  13. Measures of bulbar and spinal motor function, muscle innervation, and mitochondrial function in ALS rats.

    Science.gov (United States)

    Smittkamp, Susan E; Spalding, Heather N; Brown, Jordan W; Gupte, Anisha A; Chen, Jie; Nishimune, Hiroshi; Geiger, Paige C; Stanford, John A

    2010-07-29

    Symptom onset in amyotrophic lateral sclerosis (ALS) may occur in the muscles of the limbs (spinal onset) or those of the head and neck (bulbar onset). Most preclinical studies have focused on spinal symptoms, despite the prevalence of and increased morbidity and mortality associated with bulbar disease. We measured lick rhythm and tongue force to evaluate bulbar disease in the SOD1-G93A rat model of familial ALS. Body weight and grip strength were measured concomitantly. Testing spanned the early (maturation), middle (pre-symptomatic), and late (symptomatic and end-stage) phases of the disease. We measured a persistent tongue motility deficit that became apparent in the early phase of the disease, providing behavioral evidence of bulbar pathology. At end-stage, however, cytochrome oxidase (CO) activity was normal in the hypoglossal nucleus, and in the tongue, neuromuscular innervation, citrate synthase (CS) protein levels and activity, and uncoupling protein 3 (UCP3) protein levels remained unchanged. Interestingly, significant denervation and atrophy were evident in the end-stage sternomastoid muscle, providing peripheral anatomical evidence of bulbar pathology. Changes in body weight and grip strength occurred in the late phase of the disease. Extensive atrophy and denervation were observed in the end-stage gastrocnemius muscle. In contrast to our findings in the tongue, CS protein levels were decreased in the extensor digitorum longus (EDL) and soleus, although CS activity was maintained or increased. UCP3 protein was decreased also in the EDL. These data provide evidence of differential effects in muscles that were more or less affected by disease.

  14. Significance of apparent diffusion coefficient measurement for the differential diagnosis of multiple system atrophy, progressive supranuclear palsy, and Parkinson's disease: evaluation by 3.0-T MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Tsukamoto, Kazumichi; Kanasaki, Yoshiko; Kakite, Suguru; Fujii, Shinya; Kaminou, Toshio; Ogawa, Toshihide [Tottori University, Division of Radiology, Department of Pathophysiological and Therapeutic Science, Faculty of Medicine, Yonago, Tottori (Japan); Matsusue, Eiji [Tottori Prefectural Central Hospital, Department of Radiology, Tottori (Japan)

    2012-09-15

    The clinical differentiation of Parkinson's disease (PD) from multiple system atrophy (MSA) and progressive supranuclear palsy (PSP) may be challenging, especially in their early stages. The aim of this study was to evaluate the utility of apparent diffusion coefficient (ADC) measurement to distinguish among these degenerative disorders. Twenty-five MSA, 20 PSP, and 17 PD patients and 18 healthy controls were retrospectively studied. Axial diffusion-weighted and T2-weighted images were obtained using a 3-T MR system. Regions of interest (ROIs) were precisely placed in the midbrain, pons, putamen, globus pallidus, caudate nucleus, thalamus, superior cerebellar peduncle, middle cerebellar peduncle, cerebellar white matter, and cerebellar dentate nucleus, and the regional ADC (rADC) value was calculated in each ROI. In MSA, rADC values in the pons, middle cerebellar peduncle, cerebellar white matter, and cerebellar dentate nucleus were significantly higher than in PSP, PD, and controls. Furthermore, rADC values in the posterior putamen were significantly higher in MSA than in PSP and controls. In PSP, rADC values were significantly higher in the globus pallidus and midbrain than in MSA, PD, and controls. Furthermore, rADC values in the caudate nucleus and superior cerebellar peduncle were significantly higher in PSP than in MSA and controls. In PD, there were no significant differences in the rADC values compared to in MSA, PSP, and controls in all regions. Evaluation of rADC values in characteristic lesions in MSA, PSP, and PD by placing ROIs using 3-T systems can provide useful additional information for differentiating these disorders. (orig.)

  15. Analysis of the CAG repeat region of the androgen receptor gene in a kindred with X-linked spinal and bulbar muscular atrophy.

    Science.gov (United States)

    Belsham, D D; Yee, W C; Greenberg, C R; Wrogemann, K

    1992-10-01

    Herein we describe a family with X-linked spinal and bulbar muscular atrophy (SBMA or Kennedy's disease), an adult onset neuromuscular disease characterized by slow progression, predominant proximal and bulbar muscle weakness. One frequent association is the appearance of gynecomastia. This disorder was previously shown to be linked to the locus DXYS1 on the proximal long arm of the X chromosome. Recently, a report implicated a mutation at the N-terminus of the androgen receptor gene involving amplification of CAG repeats as the cause of X-linked SBMA. We studied this region of the androgen receptor in a kindred clinically suspected but not confirmed of having X-linked SBMA by the polymerase chain reaction (PCR) followed by Southern analysis and DNA sequencing. The mutated allele was found to have an increased number of 51 CAG repeats confirming the clinical diagnosis of SBMA. Normal individuals revealed 23 repeat numbers within the normal range, while another unrelated X-linked SBMA patient had an enlarged CAG repeat region. The carrier or disease status could be established or confirmed in 12 individuals of this family on the basis of detecting normal and disease alleles reflected by the number of CAG repeats.

  16. CEREBRAL PALSY : ANTENATAL RISK FACTORS

    Directory of Open Access Journals (Sweden)

    Srinivasa Rao

    2015-05-01

    Full Text Available INTRODUCTION: Cerebral palsy (CP is a group of permanent movement disorders that appear in early childhood. Cerebral palsy is caused by abnormal development or damage to the parts of the brain that control movement, balance, and posture. Most often the problems occur during pregnancy; however, they may also occur during childbirth, or shortly after birth. Often the cause is unknown. AIM: To study the different antenatal maternal risk factors associated with cerebral palsy in the study group. MATERIA LS AND METHODS: Retrospective study was done to assess possible associated antenatal risk factors for cerebral palsy. Mothers of 100 cerebral palsy children were selected who are treated in Rani Chandramani Devi Hospital, a Government hospital in Visakhapa tn am, Andhra Pradesh State, India , from 2012 to 2014 and 100 controls, mothers of normal children were studied. Detailed antenatal history was obtained from the mothers of the children in both affected and control group. RESULTS: From the data, we conclude that the association of maternal anaemia with cerebral palsy is 7.3 times higher; association of maternal hypertension with cerebral palsy is 6.6 time higher, association with Pre - eclampsia is 6 times higher; association with Eclampsia is 8.6 times higher ; with antepartum haemorrhage, the association is 8.6 times higher and association of multiple pregnancy with cerebral palsy is 4.8 times higher than with controls. CONCLUSION: From this study of the role of antenatal risk factors, in the occurrence of cer ebral palsy in children it is concluded that the most common risk factor associated with cerebral palsy is the maternal anaemia and the other important risk factors associated being hypertension, pre eclampsia, eclampsia, antepartum haemorrhage and multipl e births.

  17. Aberrant Autophagic Response in The Muscle of A Knock-in Mouse Model of Spinal and Bulbar Muscular Atrophy

    Science.gov (United States)

    Rusmini, Paola; Polanco, Maria Josefa; Cristofani, Riccardo; Cicardi, Maria Elena; Meroni, Marco; Galbiati, Mariarita; Piccolella, Margherita; Messi, Elio; Giorgetti, Elisa; Lieberman, Andrew P.; Milioto, Carmelo; Rocchi, Anna; Aggarwal, Tanya; Pennuto, Maria; Crippa, Valeria; Poletti, Angelo

    2015-01-01

    Spinal and bulbar muscular atrophy (SBMA) is characterized by loss of motoneurons and sensory neurons, accompanied by atrophy of muscle cells. SBMA is due to an androgen receptor containing a polyglutamine tract (ARpolyQ) that misfolds and aggregates, thereby perturbing the protein quality control (PQC) system. Using SBMA AR113Q mice we analyzed proteotoxic stress-induced alterations of HSPB8-mediated PQC machinery promoting clearance of misfolded proteins by autophagy. In muscle of symptomatic AR113Q male mice, we found expression upregulation of Pax-7, myogenin, E2-ubiquitin ligase UBE2Q1 and acetylcholine receptor (AchR), but not of MyoD, and of two E3-ligases (MuRF-1 and Cullin3). TGFβ1 and PGC-1α were also robustly upregulated. We also found a dramatic perturbation of the autophagic response, with upregulation of most autophagic markers (Beclin-1, ATG10, p62/SQSTM1, LC3) and of the HSPB8-mediated PQC response. Both HSPB8 and its co-chaperone BAG3 were robustly upregulated together with other specific HSPB8 interactors (HSPB2 and HSPB3). Notably, the BAG3:BAG1 ratio increased in muscle suggesting preferential misfolded proteins routing to autophagy rather than to proteasome. Thus, mutant ARpolyQ induces a potent autophagic response in muscle cells. Alteration in HSPB8-based PQC machinery may represent muscle-specific biomarkers useful to assess SBMA progression in mice and patients in response to pharmacological treatments. PMID:26490709

  18. Testosterone treatment fails to accelerate disease in a transgenic mouse model of spinal and bulbar muscular atrophy

    Directory of Open Access Journals (Sweden)

    Erica S. Chevalier-Larsen

    2012-01-01

    Evidence from multiple animal models demonstrates that testosterone plays a crucial role in the progression of symptoms in spinal and bulbar muscular atrophy (SBMA, a condition that results in neurodegeneration and muscle atrophy in affected men. Mice bearing a transgene encoding a human androgen receptor (AR that contains a stretch of 112 glutamines (expanded polyglutamine tract; AR112Q mice reproduce several aspects of the human disease. We treated transgenic male AR112Q mice with testosterone for 6 months. Surprisingly, testosterone treatment of AR112Q males did not exacerbate the disease. Although transgenic AR112Q males exhibited functional deficits when compared with non-transgenics, long-term testosterone treatment had no effect on motor function. Testosterone treatment also failed to affect cellular markers of disease, including inclusion formation (the accumulation of large nuclear aggregates of mutant AR protein and levels of unphosphorylated neurofilament heavy chain. These data suggest that the mechanism of disease in SBMA saturates at close to endogenous hormone levels and that individuals with SBMA who take, or have taken, testosterone for its putative therapeutic properties are unlikely to suffer adverse effects.

  19. Antiandrogen flutamide protects male mice from androgen-dependent toxicity in three models of spinal bulbar muscular atrophy.

    Science.gov (United States)

    Renier, Kayla J; Troxell-Smith, Sandra M; Johansen, Jamie A; Katsuno, Masahisa; Adachi, Hiroaki; Sobue, Gen; Chua, Jason P; Sun Kim, Hong; Lieberman, Andrew P; Breedlove, S Marc; Jordan, Cynthia L

    2014-07-01

    Spinal and bulbar muscular atrophy (SBMA) is a late-onset, progressive neurodegenerative disease linked to a polyglutamine (polyQ) expansion in the androgen receptor (AR). Men affected by SBMA show marked muscle weakness and atrophy, typically emerging midlife. Given the androgen-dependent nature of this disease, one might expect AR antagonists to have therapeutic value for treating SBMA. However, current work from animal models suggests otherwise, raising questions about whether polyQ-expanded AR exerts androgen-dependent toxicity through mechanisms distinct from normal AR function. In this study, we asked whether the nonsteroidal AR antagonist flutamide, delivered via a time-release pellet, could reverse or prevent androgen-dependent AR toxicity in three different mouse models of SBMA: the AR97Q transgenic (Tg) model, a knock-in (KI) model, and a myogenic Tg model. We find that flutamide protects mice from androgen-dependent AR toxicity in all three SBMA models, preventing or reversing motor dysfunction in the Tg models and significantly extending the life span in KI males. Given that flutamide effectively protects against androgen-dependent disease in three different mouse models of SBMA, our data are proof of principle that AR antagonists have therapeutic potential for treating SBMA in humans and support the notion that toxicity caused by polyQ-expanded AR uses at least some of the same mechanisms as normal AR before diverging to produce disease and muscle atrophy.

  20. Decreased Peak Expiratory Flow Associated with Muscle Fiber-Type Switching in Spinal and Bulbar Muscular Atrophy.

    Science.gov (United States)

    Yamada, Shinichiro; Hashizume, Atsushi; Hijikata, Yasuhiro; Inagaki, Tomonori; Suzuki, Keisuke; Kondo, Naohide; Kawai, Kaori; Noda, Seiya; Nakanishi, Hirotaka; Banno, Haruhiko; Hirakawa, Akihiro; Koike, Haruki; Halievski, Katherine; Jordan, Cynthia L; Katsuno, Masahisa; Sobue, Gen

    2016-01-01

    The aim of this study was to characterize the respiratory function profile of subjects with spinal and bulbar muscular atrophy (SBMA), and to explore the underlying pathological mechanism by comparing the clinical and biochemical indices of this disease with those of amyotrophic lateral sclerosis (ALS). We enrolled male subjects with SBMA (n = 40) and ALS (n = 25) along with 15 healthy control subjects, and assessed their respiratory function, motor function, and muscle strength. Predicted values of peak expiratory flow (%PEF) and forced vital capacity were decreased in subjects with SBMA compared with controls. In SBMA, both values were strongly correlated with the trunk subscores of the motor function tests and showed deterioration relative to disease duration. Compared with activities of daily living (ADL)-matched ALS subjects, %PEF, tongue pressure, and grip power were substantially decreased in subjects with SBMA. Both immunofluorescence and RT-PCR demonstrated a selective decrease in the expression levels of the genes encoding the myosin heavy chains specific to fast-twitch fibers in SBMA subjects. The mRNA levels of peroxisome proliferator-activated receptor gamma coactivator 1-alpha and peroxisome proliferator-activated receptor delta were up-regulated in SBMA compared with ALS and controls. In conclusion, %PEF is a disease-specific respiratory marker for the severity and progression of SBMA. Explosive muscle strength, including %PEF, was selectively affected in subjects with SBMA and was associated with activation of the mitochondrial biogenesis-related molecular pathway in skeletal muscles.

  1. CEREBRAL PALSY AND MUSIC ACHIEVEMENT

    Directory of Open Access Journals (Sweden)

    Miodrag L. STOSHLJEVIKJ

    2008-12-01

    Full Text Available Pupils with cerebral palsy attend elementary education accordind to a regular and special teaching plan and program. Regular school curriculum was reformed in 1992, while special plan and program has not been changed and adapted according to pupil’s needs and capacities. Music is one of the best means of expressing oneself and plays a very important role in the development of every child, the child with cerebral palsy in particular.In order to test the possibility of pupils with cerebral palsy, with and without mental retardation, to apprehend the actual program content, we have conducted research on musical achievement of children with cerebral palsy. During 2007 a research was carried out, on the sample of 27 pupils with cerebral palsy and mild mental retardation who attended classes in the school “Miodrag Matikj”, and a sample of16 students with cerebral palsy without mental retardation who attended the school “Dr. Dragan Hercog” in Belgrade.Results of the research, as well as analysis of music curriculum content, indicated that the capacities of students with cerebral palsy to carry out the curriculum tasks require special approach and methodology. Therefore, we introduced some proposals to overcome the difficulties in fulfilling music curriculum demands of those pupils. We made special emphasis on the use of computer based Assistive technology which facilitates the whole process to a large extent.

  2. POSTOPERATIVE MUSCLE SPASM IN A CHILD WITH CEREBRAL PALSY: A CASE REPORT

    OpenAIRE

    Sanmuga Piriya; Suresh Kumar; Mohamud Iqbal; Prasanna Kumar; Sivashanmugham

    2014-01-01

    Cerebral palsy is a non-progressive motor disorder which occurs due to hypoxic insult to fetus during perinatal period. These children often present for elective surgical procedures to correct various deformities. Peri-operative care of a child with cerebral palsy is a real challenge to the anaesthetics because of associated comorbidities. Yet another problem in these patients is behavior abnormality and difficulty in communication. Therefore regional anaesthesia is usually co...

  3. Learn More About Cerebral Palsy

    Centers for Disease Control (CDC) Podcasts

    2008-03-30

    This podcast describes the causes, preventions, types, and signs and symptoms of cerebral palsy.  Created: 3/30/2008 by National Center on Birth Defects and Developmental Disabilities.   Date Released: 3/21/2008.

  4. Neurocysticercosis presenting as pseudobulbar palsy

    Directory of Open Access Journals (Sweden)

    Arinaganahalli Subbanna Praveen Kumar

    2014-01-01

    Full Text Available Neurocysticercosis (NCC is the most common helminthic infestation of the central nervous system (CNS and a leading cause of acquired epilepsy worldwide. The common manifestations of NCC are seizures and headache. The NCC as a cause of pseudobulbar palsy is very unusual and not reported yet in the literature. A pseudobulbar palsy can occur in any disorder that causes bilateral corticobulbar disease. The common etiologies of pseudobulbar palsy are vascular, demyelinative, or motor neuron disease. We report a 38-year-old female patient who presented with partial seizures and pseudobulbar palsy. The MRI brain showed multiple small cysts with scolex in both the cerebral hemispheres and a giant intraparenchymal cyst. Our patient responded well to standard treatment of neurocysticercosis and antiepileptics.

  5. A Clinical Study on 1 Case of Patient with Bilateral Simultaneous Bell's Palsy Treated by Hominis Placenta Herbal-Acupuncture

    OpenAIRE

    2003-01-01

    Objective : This study was carried out to investigate the progress of bilateral simultaneous facial palsy and the effect of Hominis Placenta herbal-acupunture and the other oriental medical therapies. Methods : We used two methods to research the progress of disease. 1. Diagnosis - Facial muscle test, Taste test, Hearing test, Photographies, Lab-finding 2. Treatment - Acupuncture, Herbal-acupuncture, Electroacupuncture, Herb-med Results : The onset of Rt. facial palsy was earlier ...

  6. MR imaging of cerebral palsy

    Energy Technology Data Exchange (ETDEWEB)

    Saginoya, Toshiyuki [Urasoe General Hospital, Okinawa (Japan); Yamaguchi, Keiichiro; Kuniyoshi, Kazuhide [and others

    1996-06-01

    We evaluated 35 patients with cerebral palsy on the basis of MR imaging findings in the brain. The types of palsy were spastic quadriplegia (n=11), spastic diplegia (n=9), spastic hemiplegia (n=2), double hemiplegia (n=1), athetosis (n=10) and mixed (n=2). Of all patients, 28 (80%) generated abnormal findings. In spastic quadriplegia, although eight cases revealed severe brain damage, two cases showed no abnormal findings in the brain. One of the three had cervical cord compression caused by atlanto-axial subluxation. In spastic diplegia, the findings were divided according to whether the patient was born at term or preterm. If the patient had been born prematurely, the findings showed periventricular leukomalacia and abnormally high intensity in the posterior limbs of the internal capsule on T2-weighted images. MR imaging in spastic hemiplegia revealed cerebral infarction. In the athetoid type, half of all cases showed either no abnormal findings or slight widening of the lateral ventricle. Three cases showed abnormal signals of the basal ganglia. The reason why athetoid-type palsy did not show severe abnormality is unknown. We believe that MR imaging is a useful diagnostic modality to detect damage in the brain in cerebral palsy and plays an important role in the differentiation of cerebral palsy from the spastic palsy disease. (author)

  7. Progressive Supranuclear Palsy (PSP): Frequently Asked Questions

    Science.gov (United States)

    ... cells. One very large family with PSP in multiple members has a variant in a gene other ... difficulty planning or executing unrehearsed movements, dementia) sensory loss “alien hand/limb” phenomenon (difficulty controlling the movements of a limb, ...

  8. 中医推拿治疗小儿脑性瘫痪研究现状%Research Progress of Traditional Chinese Medicine Massage in Children with Cerebral Palsy

    Institute of Scientific and Technical Information of China (English)

    王丹蓉(综述); 吴云川(审校)

    2015-01-01

    Cerebral palsy is a common nervous system disease in clinical,and the morbidity is increasing these years,which is one of the major diseases causing disability of children. Traditional Chinese medicine ( TCM) massage has a very unique advantage on children with cerebral palsy because of low price,conven-ience,and safety. TCM massage has an obvious improving effect on the motor development,respiratory sys-tem,digestive system, five sense organs′ function of children with cerebral palsy. However currently most research on the effects of the TCM massage on children with cerebral palsy still focuses on the influence on the patients′motion system and its evaluating system is defective. Besides,study on the standardization of the differentiation therapy of the massage is also a development direction in the future.%小儿脑性瘫痪(脑瘫)是临床上常见的一种神经系统疾病,也是小儿致残的重要疾病之一,且发病率呈上升趋势。中医推拿在治疗小儿脑瘫方面独具优势,经济、简便、安全,对脑瘫患儿的运动发育、呼吸系统、消化系统、五官功能等可起到明显的改善作用。但目前中医推拿治疗小儿脑瘫的研究还是多集中在对脑瘫患儿运动系统的影响,且评定系统不够完善。另外,中医推拿对小儿脑瘫的辩证施术的规范化研究,也是今后的拓展方向。

  9. Isolated trochlear nerve palsy with midbrain hemorrhage

    Directory of Open Access Journals (Sweden)

    Raghavendra S

    2010-01-01

    Full Text Available Midbrain hemorrhage causing isolated fourth nerve palsy is extremely rare. Idiopathic, traumatic and congenital abnormalities are the most common causes of fourth nerve palsy. We report acute isolated fourth nerve palsy in an 18-year-old lady due to a midbrain hemorrhage probably due to a midbrain cavernoma. The case highlights the need for neuroimaging in selected cases of isolated trochlear nerve palsy.

  10. Recovery of function in a myogenic mouse model of spinal bulbar muscular atrophy

    OpenAIRE

    Johansen, Jamie A.; Yu, Zhigang; Mo, Kaiguo; Monks, D. Ashley; Lieberman, Andrew P.; Breedlove, S. Marc; Jordan, Cynthia L.

    2008-01-01

    With this paper, we deliberately challenge the prevailing neurocentric theory of the etiology of spinal bulbar muscular atrophy (SBMA). We offer data supporting an alternative view that androgen receptor (AR) acts in skeletal muscles to cause the symptoms of SBMA. While SBMA has been linked to a CAG repeat expansion in the AR gene and mutant AR is presumed to act in motoneurons to cause SBMA, we find that over-expression of wild type AR solely in skeletal muscle fibers results in the same and...

  11. Physiological and Pathological Impact of Blood Sampling by Retro-Bulbar Sinus Puncture and Facial Vein Phlebotomy in Laboratory Mice

    DEFF Research Database (Denmark)

    Teilmann, Anne Charlotte; Nygaard Madsen, Andreas; Holst, Birgitte;

    2014-01-01

    collected for histopathological analysis to assess the degree of tissue trauma. Mice subjected to facial vein phlebotomy had significantly elevated plasma corticosterone levels at both time points in contrast to mice subjected to retro-bulbar sinus puncture, which did not. Both groups of sampled mice lost...... extensive tissue trauma after both facial vein phlebotomy and retro-bulbar sinus puncture. This study demonstrates that both blood sampling methods have a considerable impact on the animals' physiological condition, which should be considered whenever blood samples are obtained.......Retro-bulbar sinus puncture and facial vein phlebotomy are two widely used methods for blood sampling in laboratory mice. However, the animal welfare implications associated with these techniques are currently debated, and the possible physiological and pathological implications of blood sampling...

  12. Neuroevolutional Approach to Cerebral Palsy and Speech.

    Science.gov (United States)

    Mysak, Edward D.

    Intended for cerebral palsy specialists, the book emphasizes the contribution that a neuroevolutional approach to therapy can make to habilitation goals of the child with cerebral palsy and applies the basic principles of the Bobath approach to therapy. The first section discusses cerebral palsy as a reflection of disturbed neuro-ontogenisis and…

  13. Mechanisms mediating spinal and bulbar muscular atrophy: Investigations into polyglutamine-expanded androgen receptor function and dysfunction

    Directory of Open Access Journals (Sweden)

    Lenore K. Beitel

    2013-05-01

    Full Text Available Spinal and bulbar muscular atrophy (SBMA, Kennedy’s disease, a late-onset neuromuscular disorder, is caused by expansion of the polymorphic polyglutamine tract in the androgen receptor (AR. The AR is a ligand-activated transcription factor, but plays roles in other cellular pathways. In SBMA, selective motor neuron degeneration occurs in the brainstem and spinal cord, thus the causes of neuronal dysfunction have been studied. However, pathogenic pathways in muscles may also be involved. Cultured cells, fly and mouse models have been used to study the molecular mechanisms leading to SBMA. Both the structure of the polyglutamine expanded AR (polyQ AR and its interactions with other proteins are altered relative to the normal AR. The ligand-dependent translocation of the polyQ AR to the nucleus appears to be critical, as are interdomain interactions. The polyQ AR, or fragments thereof, can form nuclear inclusions, but their pathogenic or protective nature is unclear. Other data suggests soluble polyQ AR oligomers can be harmful. Post-translational modifications such as phosphorylation, acetylation, and ubiquitination influence AR function and modulate the deleterious effects of the polyQ AR. Transcriptional dysregulation is highly likely to be a factor in SBMA; deregulation of nongenomic AR signaling may also be involved. Studies on polyQ AR protein degradation suggest inhibition of the ubiquitin proteasome system and changes to autophagic pathways may be relevant. Mitochondrial function and axonal transport may also be affected by the polyQ AR. Androgens, acting through the AR, can be neurotrophic and are important in muscle development; hence both loss of normal AR functions and gain of novel harmful functions by the polyQ AR can contribute to neurodegeneration and muscular atrophy. Thus investigations into polyQ AR function have shown that multiple complex mechanisms lead to the initiation and progression of SBMA.

  14. Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world.

    Science.gov (United States)

    Lund, A; Udd, B; Juvonen, V; Andersen, P M; Cederquist, K; Davis, M; Gellera, C; Kölmel, C; Ronnevi, L O; Sperfeld, A D; Sörensen, S A; Tranebjaerg, L; Van Maldergem, L; Watanabe, M; Weber, M; Yeung, L; Savontaus, M L

    2001-06-01

    SBMA (spinal and bulbar muscular atrophy), also called Kennedy disease, is an X-chromosomal recessive adult-onset neurodegenerative disorder caused by death of the spinal and bulbar motor neurones and dorsal root ganglia. Patients may also show signs of partial androgen insensitivity. SBMA is caused by a CAG repeat expansion in the first exon of the androgen receptor (AR) gene on the X-chromosome. Our previous study suggested that all the Nordic patients with SBMA originated from an ancient Nordic founder mutation, but the new intragenic SNP marker ARd12 revealed that the Danish patients derive their disease chromosome from another ancestor. In search of relationships between patients from different countries, we haplotyped altogether 123 SBMA families from different parts of the world for two intragenic markers and 16 microsatellites spanning 25 cM around the AR gene. The fact that different SBMA founder haplotypes were found in patients from around the world implies that the CAG repeat expansion mutation has not been a unique event. No expansion-prone haplotype could be detected. Trinucleotide diseases often show correlation between the repeat length and the severity and earlier onset of the disease. The longer the repeat, the more severe the symptoms are and the onset of the disease is earlier. A negative correlation between the CAG repeat length and the age of onset was found in the 95 SBMA patients with defined ages at onset.

  15. Pathogenesis and molecular targeted therapy of spinal and bulbar muscular atrophy (SBMA).

    Science.gov (United States)

    Banno, Haruhiko; Katsuno, Masahisa; Suzuki, Keisuke; Tanaka, Fumiaki; Sobue, Gen

    2012-07-01

    Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is an adult-onset, X-linked motor neuron disease characterized by muscle atrophy, weakness, contraction fasciculations, and bulbar involvement. SBMA is caused by the expansion of a CAG triplet repeat, encoding a polyglutamine tract within the first exon of the androgen receptor (AR) gene. The histopathological finding in SBMA is the loss of lower motor neurons in the anterior horn of the spinal cord as well as in the brainstem motor nuclei. There is no established disease-modifying therapy for SBMA. Animal studies have revealed that the pathogenesis of SBMA depends on the level of serum testosterone, and that androgen deprivation mitigates neurodegeneration through inhibition of nuclear accumulation and/or stabilization of the pathogenic AR. Heat shock proteins, the ubiquitin-proteasome system and transcriptional regulation are also potential targets for development of therapy for SBMA. Among these therapeutic approaches, the luteinizing hormone-releasing hormone analogue, leuprorelin, prevents nuclear translocation of aberrant AR proteins, resulting in a significant improvement of disease phenotype in a mouse model of SBMA. In a phase 2 clinical trial of leuprorelin, the patients treated with this drug exhibited decreased mutant AR accumulation in scrotal skin biopsy. Phase 3 clinical trial showed the possibility that leuprorelin treatment is associated with improved swallowing function particularly in patients with a disease duration less than 10 years. These observations suggest that pharmacological inhibition of the toxic accumulation of mutant AR is a potential therapy for SBMA.

  16. Conjunctival Impression Cytology and Bulbar Surface Epithelium Changes in Patients with Psoriasis

    Directory of Open Access Journals (Sweden)

    Sevda Söker

    2007-01-01

    Full Text Available In this study, we evaluated bulbar surface epithelium changes with conjunctival impression cytology (IC in patients with psoriasis. Our study group consisted of 32 psoriatic patients (64 eyes, who were followed up at Dermatology Department of Dicle University Hospital. Control group comprised 32 healthy volunteers (64 eyes who had no abnormality on routine ophthalmological examination and were in the same age and sex distribution. Specimens for conjunctival IC were obtained with a cellulose acetate filter paper from the upper bulbar conjunctiva and fixed with 70 % ethyl alcohol, 37 % formaldehyde and 20:1:1 glicial asetic acid solution. Specimens were stained with periodic acid Schiff’s and Hematoxylin-eosin. The grades of Nelson system were evaluated with light microscopy. Of the patients with psoriasis, 39 % had grade 0, 36 % grade I, and 25 % grade II conjunctival IC differentiation compared with 78, 22, and 0 %, respectively in the control group (p< 0.001. Snake-like appearance of nuclear chromatin in conjunctival epithelial cells was demonstrated in 3 % of eyes in group I but in no eyes in group II. In conclusion, we showed that there could be early conjunctival changes and squamose metaplasia as well as increased goblet cell density in patients with psoriasis when compared with control group.

  17. Neurophysiologic findings in children with spastic cerebral palsy

    Directory of Open Access Journals (Sweden)

    Ruchi Kothari

    2010-01-01

    Full Text Available Context : Cerebral palsy (CP is a heterogeneous group of permanent, non-progressive motor disorders of movement and posture caused by chronic brain injuries. It is the most common cause of physical disability in childhood; spastic cerebral palsy being the most prevalent of its various forms. There is scanty information about the neurophysiologic investigations in children diagnosed as having spastic CP. Aims : The aim of the study was to investigate the relationship between abnormal VEP and BAEP findings with different clinical parameters in children with spastic cerebral palsy. Materials and Methods : Fifteen children with spastic CP in the age range 4 months to 10 years participated in this study. Evaluation of VEPs, brainstem evoked potentials (BAEPs were performed in all study patients as well as 35 healthy children as controls. The study was conducted after obtaining ethics committee approval and informed consent of parents. Statistical Analysis Used : Significance of difference in the mean values of different parameters in different groups was assessed by Student′s "t" test and the P value <0.05 was considered to be significant. All the values were expressed as mean ± 1 Std. Deviation. Results : A significant difference was found in the VEP latencies and amplitude between the subjects with CP and controls. Striking BAEP abnormalities in CP patients include prolongation of absolute latency of wave V, interpeak latencies of III-V and lowered I-V ratio. Abnormal VEPs and BAEPs in children with bilateral spastic cerebral palsy demonstrated a correlation with the presence of moderate to severe developmental delay. Conclusions : The differences in VEPs and BAEPs were determined between CP children and healthy children. The abnormalities found are probably linked to the neurological deficits present in cases of cerebral palsy.

  18. Lifetime costs of cerebral palsy

    DEFF Research Database (Denmark)

    Kruse, Marie; Michelsen, Susan Ishøy; Flachs, Esben Meulengracht;

    2009-01-01

    This study quantified the lifetime costs of cerebral palsy (CP) in a register-based setting. It was the first study outside the US to assess the lifetime costs of CP. The lifetime costs attributable to CP were divided into three categories: health care costs, productivity costs, and social costs....... The population analyzed was retrieved from the Danish Cerebral Palsy Register, which covers the eastern part of the country and has registered about half of the Danish population of individuals with CP since 1950. For this study we analyzed 2367 individuals with CP, who were born in 1930 to 2000 and were alive...

  19. Synergic prodegradative activity of Bicalutamide and trehalose on the mutant androgen receptor responsible for spinal and bulbar muscular atrophy

    NARCIS (Netherlands)

    Giorgetti, Elise; Rusmini, Paola; Crippa, Valeria; Cristofani, Riccardo; Boncoraglio, Alessandra; Cicardi, Maria E.; Galbiati, Mariarita; Poletti, Angelo

    2015-01-01

    Spinal and bulbar muscular atrophy (SBMA) is an X-linked motoneuron disease due to a CAG triplet-repeat expansion in the androgen receptor (AR) gene, which is translated into an elongated polyglutamine (polyQ) tract in AR protein (ARpolyQ). ARpolyQ toxicity is activated by the AR ligand testosterone

  20. Brain hypermetabolism in amyotrophic lateral sclerosis: a FDG PET study in ALS of spinal and bulbar onset

    Energy Technology Data Exchange (ETDEWEB)

    Cistaro, Angelina; Fania, Piercarlo [Positron Emission Tomography Center IRMET S.p.A, Turin (Italy); Consuelo Valentini, Maria; Carrara, Giovanna [CTO Hospital, Department of Neuroradiology, Turin (Italy); Chio, Adriano; Calvo, Andrea; Moglia, Cristina; Montuschi, Anna [University of Turin, Department of Neuroscience, ALS Center, Turin (Italy); Nobili, Flavio [University of Genoa, Department of Neurosciences, Clinical Neurophysiology Unit, Ophthalmology and Genetics, Genoa (Italy); Morbelli, Silvia [University of Genoa, Department of Internal Medicine, Nuclear Medicine Unit, Genoa (Italy); Salmaso, Dario [Institute of Cognitive Sciences and Technologies, CNR, Padua (Italy); Institute of Cognitive Sciences and Technologies, CNR, Rome (Italy); Pagani, Marco [Institute of Cognitive Sciences and Technologies, CNR, Padua (Italy); Karolinska Hospital, Department of Nuclear Medicine, Stockholm (Sweden); Institute of Cognitive Sciences and Technologies, CNR, Rome (Italy)

    2012-02-15

    To identify the neurobiological traits of amyotrophic lateral sclerosis (ALS) and to elucidate functional differences between ALS of spinal and bulbar onset. We hypothesized that glucose metabolism distribution might vary between groups. The study groups comprised 32 patients with ALS of either bulbar (n = 13) or spinal (n=19) onset and 22 subjects as controls. They were investigated by [{sup 18}F]fluorodeoxyglucose (FDG) positron emission tomography (FDG PET), comparing the patient groups with each other and with the controls by statistical parametric mapping. Highly significant relative increases in glucose metabolism distribution were found in the group comprising all 32 ALS patients as compared with the controls in the bilateral amygdalae, midbrain, pons and cerebellum. Relative hypermetabolism was also found in patients with spinal onset as compared with the controls in the right midbrain. In patients with bulbar onset compared with the controls and with patients with spinal onset, large relatively hypometabolic areas were found in the bilateral frontal cortex, right insula, anterior cingulate, precuneus and inferior parietal lobe. Patients with spinal onset had significantly higher scores in a neuropsychological test assessing verbal fluency compared with patients with bulbar onset. This large FDG PET investigation provided unprecedented evidence of relatively increased metabolism in the amygdalae, midbrain and pons in ALS patients as compared with control subjects, possibly due to local activation of astrocytes and microglia. Highly significant relative decreases in metabolism were found in large frontal and parietal regions in the bulbar onset patients as compared with the spinal onset patients and the controls, suggesting a differential metabolic and neuropsychological state between the two conditions. (orig.)

  1. Embodying Investigations of Cerebral Palsy

    DEFF Research Database (Denmark)

    Martiny, Kristian Møller Moltke

    The main question of Kristian Martiny’s dissertation is: how do we help persons living with the brain damage, cerebral palsy (CP)? This question is as complex and difficult to answer as any healthcare question. Martiny argues that we need to ‘open up’ how we do ( cognitive ) science in order...

  2. Ocular defects in cerebral palsy

    Directory of Open Access Journals (Sweden)

    Katoch Sabita

    2007-01-01

    Full Text Available There is a high prevalence of ocular defects in children with developmental disabilities. This study evaluated visual disability in a group of 200 cerebral palsy (CP patients and found that 68% of the children had significant visual morbidity. These findings emphasize the need for an early ocular examination in patients with CP.

  3. Research progress of botulinum toxin type A in treatment of spastic cerebral palsy%A型肉毒毒素治疗痉挛型脑瘫的研究进展

    Institute of Scientific and Technical Information of China (English)

    刘春明(综述); 刘芸(审校)

    2015-01-01

    脑瘫是指出生前到出生后1个月内各种原因所引起的脑损伤或发育缺陷所致的运动障碍及姿势异常。小儿脑瘫临床上分为痉挛型,不随意运动型,共济失调型,肌张力低下型及混合型5种,其中,痉挛型占60%~70%,是造成儿童肢体残疾的最主要脑瘫类型。脑瘫一旦确诊多采用综合的治疗方法包括功能训练,物理疗法,中医针刺,按摩,药物治疗等。近年来,临床上开始广泛使用毒杆菌毒素 A(botuli-num toxin A,BTX-A)局部注射治疗痉挛型脑瘫儿童,大量临床研究结果显示该药安全、有效,但在治疗过程中应该严格掌握使用该药的适应证,禁忌证,而剂量的选择和靶肌的准确定位是影响治疗效果的关键因素。%Cerebral palsy refers to brain injury caused by various reasons from before birth to 1 month after birth or movement disorders and abnormal posture caused by brain developmental defects. Children cerebral palsy is divided into 5 kinds in the clinic:spastic type, dyskinetic type, ataxia type, muscle hypotonia type and mixed type. Among them, the spastic type accounts for 60% ~70% , and is the main type which causes children physical disabilities. Once diagnosed, the comprehensive treatment method is ap-plied, including functional training, physical therapy, acupuncture, massage, medicine treatment, and so on. In recent years, the lo-cal injection of botulinum toxin A is used for treating the children with spastic cerebral palsy. A large number of clinical studies show that the drug is safe and effective; however, in the course of treatment, it should strictly control the drug indications and contraindica-tions. Especially, the dosage choice and the accurate localization of target muscle is the key factor to influence the treatment effect.

  4. [Somatic mosaicism of expanded CAG trinucleotide repeat in spinal and bulbar muscular atrophy (SBMA)].

    Science.gov (United States)

    Tanaka, F; Ito, Y; Sobue, G

    1999-04-01

    The CAG repeat in spinal and bulbar muscular atrophy (SBMA) is relatively stable in mitotic and meiotic processes as compared with other CAG repeat diseases. Previous reports indicate that SBMA does not manifest somatic mosaicism. However, detailed analysis in various tissues from 20 SBMA including 4 autopsied patients revealed the presence of the tissue-specific pattern of mosaicism. The prominent somatic mosaicism was observed in the cardiac and skeletal muscles, which are predominantly composed of postmitotic cells, and in the skin, prostate, and testis. The central nervous system (CNS) tissues, liver, and spleen showed smallest mosaicism. Such tissue-specific pattern of somatic mosaicism in SBMA is not explained by cell composition with different cell turnover rates. Other cell specific factors are likely more important for the somatic mosaicism in SBMA.

  5. Spinal and bulbar muscular atrophy (SBMA): somatic stability of an expanded CAG repeat in fetal tissues.

    Science.gov (United States)

    Jedele, K B; Wahl, D; Chahrokh-Zadeh, S; Wirtz, A; Murken, J; Holinski-Feder, E

    1998-08-01

    Spinal and bulbar muscular atrophy (SBMA) is a rare X-linked motor neuron degenerative disease caused by an expanded trinucleotide repeat. Unlike most other trinucleotide repeat diseases, SBMA shows limited meiotic instability, and evidence thus far indicates absence of somatic instability in adults. Data regarding the presence of fetal tissue somatic mosaicism is unavailable. We present a family in which a woman whose father had SBMA requested prenatal testing. After informed consent. molecular genetic evaluation showed the male fetus to carry the SBMA repeat elongation. Testing of fetal tissues after elective pregnancy termination showed no somatic mosaicism in the CAG repeat length. This is the first report of molecular genetic analysis of multiple tissues in an affected fetus, and only the second report of prenatal diagnosis in SBMA.

  6. [Anti-androgen therapy for spinal and bulbar muscular atrophy (SBMA)].

    Science.gov (United States)

    Katsuno, Masahisa; Banno, Haruhiko; Suzuki, Keisuke; Hashizume, Atsushi; Adachi, Hiroaki; Tanaka, Fumiaki; Sobue, Gen

    2012-01-01

    Spinal and bulbar muscular atrophy (SBMA), or Kennedy's disease, is an adult-onset lower motor neuron disease caused by the expansion of a trinucleotide CAG repeat encoding a polyglutamine tract within the first exon of the androgen receptor (AR) gene. The testosterone-dependent nuclear accumulation of polyglutamine-expanded AR protein is central to the pathogenesis. This hypothesis is supported by pre-clinical studies showing that testosterone deprivation ameliorates motor neuron degeneration in animal modes of SBMA. In a randomized placebo-controlled multi-centric clinical trial, leuprorelin, which suppresses secretion of testosterone, showed no definite effect on motor functions, although there was the improvement of swallowing function in a subgroup of patients whose disease duration was less than 10 years. Elucidation of the entire disease mechanism, early initiation of therapeutic intervention, and sensitive outcome measures to evaluate drug effect appear to be the key to a successful translational research on SBMA.

  7. Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.

    Science.gov (United States)

    Fratta, Pietro; Collins, Toby; Pemble, Sally; Nethisinghe, Suran; Devoy, Anny; Giunti, Paola; Sweeney, Mary G; Hanna, Michael G; Fisher, Elizabeth M C

    2014-02-01

    Trinucleotide repeat disorders are a heterogeneous group of diseases caused by the expansion, beyond a pathogenic threshold, of unstable DNA tracts in different genes. Sequence interruptions in the repeats have been described in the majority of these disorders and may influence disease phenotype and heritability. Spinal bulbar muscular atrophy (SBMA) is a motor neuron disease caused by a CAG trinucleotide expansion in the androgen receptor (AR) gene. Diagnostic testing and previous research have relied on fragment analysis polymerase chain reaction to determine the AR CAG repeat size, and have therefore not been able to assess the presence of interruptions. We here report a sequencing study of the AR CAG repeat in a cohort of SBMA patients and control subjects in the United Kingdom. We found no repeat interruptions to be present, and we describe differences between sequencing and traditional sizing methods.

  8. [Triplet repeat disease, with particular emphasis of spinal and bulbar muscular atrophy (SBMA)].

    Science.gov (United States)

    Sobue, G

    2000-12-01

    Spinal and bulbar muscular atrophy (SBMA) is an X-linked neurodegenerative disease caused by the expansion of a CAG repeat in the first exon of the androgen receptor (AR) gene. To date, eight CAG-repeat diseases have been identified, including spinal and bulbar muscular atrophy (SBMA). Huntington's disease (HD), dentatorubralpallidoluysian atrophy (DRPLA) and five spinocerebellar ataxias (SCAs 1, 2, 3, 6, 7). These disorders likely share a common pathogenesis caused by the gain of a toxic function associated with the expanded polyglutamine tract. Several mechanisms have been postulated as a pathogenic process for neurodegeneration caused by the expanded polyglutamine tract. Processing of the polyglutamine containing proteins by proteases liberate truncated polyglutamine tract, which may cause neurodegeneration as demonstrated in transgenic mice and transfected cells. In addition to cellular toxicity, truncated and expanded polyglutamine tracts have been shown to form intranuclear inclusions (NI). The NIs formed by the disease protein are a common pathological feature of these diseases. In SBMA, NIs containing AR protein have been observed in regions of SBMA central nervous system susceptible to degenerations. Transcriptional factors or their cofactors, such as cerb or creb-binding protein (CBP) sequestrated in the NI may alter the major intracellular transcriptional signal transduction, and ultimately may result in neuronal degeneration. The ubiquitin-proteasome pathway may also contribute to the pathogenesis of CAG-repeat diseases. As for the therapeutic strategies, many possibilities have been demonstrated. Overexpression of Hsp70 and Hsp40 chaperones act together to protect a cultured neuronal cell model of SBMA from a cellular toxicity of expanded polyglutamine tract.

  9. Neurorehabilitation with versus without resistance training after botulinum toxin treatment in children with cerebral palsy

    DEFF Research Database (Denmark)

    Bandholm, Thomas Quaade; Jensen, Bente Rona; Nielsen, Lone M

    2012-01-01

    Objective: To compare the effects of physical rehabilitation with (PRT) and without (CON) progressive resistance training following treatment of spastic plantarflexors with botulinum toxin type A (BoNT) in children with cerebral palsy (CP). Methods: Fourteen children with CP performed supervised...... in the two groups, and the improvement was related to the reduction in antagonist (soleus) co-activity (Ptypes of physical rehabilitation...

  10. Treatment of Infantile Cerebral Palsy by Scalp Acupuncture Combined with Point Injection in 48 Cases

    Institute of Scientific and Technical Information of China (English)

    SU Li-min; XIANG Li-min

    2003-01-01

    The author treated forty-eight cases of infantile cerebral palsy with scalp acupuncture and point injection. After two courses of treatment the infants made progress in different degrees. Eight cases were cured,sixteen cases were obviously improved, twenty-two cases were improved and two cases were unchanged. The total effective rate was 95.8%.

  11. Treatment of True Palsy and Pseudobulbar Palsy with VitalStim Dysphagia Therapy Apparatus in Stroke Patients%VitalStim吞咽障碍理疗仪治疗脑卒中真、假性球麻痹的临床研究

    Institute of Scientific and Technical Information of China (English)

    全莉娟; 黄经纬; 覃波; 徐华平; 冯珍

    2012-01-01

    Objective To investigate the efficiency and mechanism of VitalStim dysphagia therapy apparatus in true and pseudobulbar bulbar palsy. Methods Seventy-five stroke patients with dysphagia who stayed in departments of neurology and rehabilitation of the First Affiliated Hospital of Nanchang University between January 2008 and December 2010 (30 cases of true palsy and 45 cases of pseudobulbar palsy) were treated with VitalStim dysphagia therapy apparatus. Swallowing function was assessed by Standardized Swallowing Assessment (SSA) and reduction in arterial oxygen saturation (SaO2) values before and after treatment. The statistical differences were determined by variance analysis and t-test using SPSS18. 0 software. Results Before treatment, there were no significant differences in SSA scores and decrease in SaO2 after drinking water between the two groups (P>0. 05). After treatment,SSA scores and reduction in SaO2 after drinking water obviously decreased in both groups(P<0. 05). Furthermore, the decrease in patients with pseudobulbar palsy was more obvious than that in patients with true palsy (P<0. 05). Conclusion The efficacy of VitalStim dysphagia physiotherapy apparatus in pseudobulbar bulbar palsy patients appears to be superior to that in true bulbar palsy patients.%目的 探讨VitalStim吞咽障碍理疗仪治疗真性、假性球麻痹的不同临床效果及其机制.方法 收集2008年1月至2010年12月入住南昌大学第一附属医院神经内科、康复科的脑卒中真、假性球麻痹吞咽障碍患者75例,其中真性球麻痹30例、假性球麻痹45例,均行VitalStim吞咽障碍理疗仪治疗.分别在治疗前、疗程结束后应用标准吞咽功能评估(SSA)评分、饮水前后血氧饱和度(SaO2)降低值评估治疗疗效,获得评估数据,组间比较采用方差分析,对所得数据应用SPSS 18.0软件系统进行统计学分析.结果 2组患者治疗前,SSA评分、饮水前后SaO2 下降值比较,差

  12. Cerebral palsy and congenital malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge;

    2007-01-01

    AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

  13. Peripheral facial weakness (Bell's palsy).

    Science.gov (United States)

    Basić-Kes, Vanja; Dobrota, Vesna Dermanović; Cesarik, Marijan; Matovina, Lucija Zadro; Madzar, Zrinko; Zavoreo, Iris; Demarin, Vida

    2013-06-01

    Peripheral facial weakness is a facial nerve damage that results in muscle weakness on one side of the face. It may be idiopathic (Bell's palsy) or may have a detectable cause. Almost 80% of peripheral facial weakness cases are primary and the rest of them are secondary. The most frequent causes of secondary peripheral facial weakness are systemic viral infections, trauma, surgery, diabetes, local infections, tumor, immune disorders, drugs, degenerative diseases of the central nervous system, etc. The diagnosis relies upon the presence of typical signs and symptoms, blood chemistry tests, cerebrospinal fluid investigations, nerve conduction studies and neuroimaging methods (cerebral MRI, x-ray of the skull and mastoid). Treatment of secondary peripheral facial weakness is based on therapy for the underlying disorder, unlike the treatment of Bell's palsy that is controversial due to the lack of large, randomized, controlled, prospective studies. There are some indications that steroids or antiviral agents are beneficial but there are also studies that show no beneficial effect. Additional treatments include eye protection, physiotherapy, acupuncture, botulinum toxin, or surgery. Bell's palsy has a benign prognosis with complete recovery in about 80% of patients, 15% experience some mode of permanent nerve damage and severe consequences remain in 5% of patients.

  14. Common questions about Bell palsy.

    Science.gov (United States)

    Albers, Janet R; Tamang, Stephen

    2014-02-01

    Bell palsy is an acute affliction of the facial nerve, resulting in sudden paralysis or weakness of the muscles on one side of the face. Testing patients with unilateral facial paralysis for diabetes mellitus or Lyme disease is not routinely recommended. Patients with Lyme disease typically present with additional manifestations, such as arthritis, rash, or facial swelling. Diabetes may be a comorbidity of Bell palsy, but testing is not needed in the absence of other indications, such as hypertension. In patients with atypical symptoms, magnetic resonance imaging with contrast enhancement can be used to rule out cranial mass effect and to add prognostic value. Steroids improve resolution of symptoms in patients with Bell palsy and remain the preferred treatment. Antiviral agents have a limited role, and may improve outcomes when combined with steroids in patients with severe symptoms. When facial paralysis is prolonged, surgery may be indicated to prevent ocular desiccation secondary to incomplete eyelid closure. Facial nerve decompression is rarely indicated or performed. Physical therapy modalities, including electrostimulation, exercise, and massage, are neither beneficial nor harmful.

  15. Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat.

    Science.gov (United States)

    Grunseich, Christopher; Kats, Ilona R; Bott, Laura C; Rinaldi, Carlo; Kokkinis, Angela; Fox, Derrick; Chen, Ke-Lian; Schindler, Alice B; Mankodi, Ami K; Shrader, Joseph A; Schwartz, Daniel P; Lehky, Tanya J; Liu, Chia-Ying; Fischbeck, Kenneth H

    2014-11-01

    Spinal and bulbar muscular atrophy (SBMA) is an X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. Patients with SBMA have weakness, atrophy, and fasciculations in the bulbar and extremity muscles. Individuals with CAG repeat lengths greater than 62 have not previously been reported. We evaluated a 29year old SBMA patient with 68 CAGs who had unusually early onset and findings not seen in others with the disease. Analysis of the androgen receptor gene confirmed the repeat length of 68 CAGs in both peripheral blood and fibroblasts. Evaluation of muscle and sensory function showed deficits typical of SBMA, and in addition the patient had manifestations of autonomic dysfunction and abnormal sexual development. These findings extend the known phenotype associated with SBMA and shed new insight into the effects of the mutated androgen receptor.

  16. A Case of Transient, Isolated Cranial Nerve VI Palsy due to Skull Base Osteomyelitis

    Directory of Open Access Journals (Sweden)

    Brijesh Patel

    2014-01-01

    Full Text Available Otitis externa affects both children and adults. It is often treated with topical antibiotics, with good clinical outcomes. When a patient fails to respond to the treatment, otitis externa can progress to malignant otitis externa. The common symptoms of skull bone osteomyelitis include ear ache, facial pain, and cranial nerve palsies. However, an isolated cranial nerve is rare. Herein, we report a case of 54-year-old female who presented with left cranial nerve VI palsy due to skull base osteomyelitis which responded to antibiotic therapy.

  17. Clinical practice guideline: Bell's Palsy executive summary.

    Science.gov (United States)

    Baugh, Reginald F; Basura, Gregory J; Ishii, Lisa E; Schwartz, Seth R; Drumheller, Caitlin Murray; Burkholder, Rebecca; Deckard, Nathan A; Dawson, Cindy; Driscoll, Colin; Gillespie, M Boyd; Gurgel, Richard K; Halperin, John; Khalid, Ayesha N; Kumar, Kaparaboyna Ashok; Micco, Alan; Munsell, Debra; Rosenbaum, Steven; Vaughan, William

    2013-11-01

    The American Academy of Otolaryngology-Head and Neck Surgery Foundation (AAO-HNSF) has published a supplement to this issue featuring the new Clinical Practice Guideline: Bell's Palsy. To assist in implementing the guideline recommendations, this article summarizes the rationale, purpose, and key action statements. The 11 recommendations developed encourage accurate and efficient diagnosis and treatment and, when applicable, facilitate patient follow-up to address the management of long-term sequelae or evaluation of new or worsening symptoms not indicative of Bell's palsy. There are myriad treatment options for Bell's palsy; some controversy exists regarding the effectiveness of several of these options, and there are consequent variations in care. In addition, there are numerous diagnostic tests available that are used in the evaluation of patients with Bell's palsy. Many of these tests are of questionable benefit in Bell's palsy. Furthermore, while patients with Bell's palsy enter the health care system with facial paresis/paralysis as a primary complaint, not all patients with facial paresis/paralysis have Bell's palsy. It is a concern that patients with alternative underlying etiologies may be misdiagnosed or have an unnecessary delay in diagnosis. All of these quality concerns provide an important opportunity for improvement in the diagnosis and management of patients with Bell's palsy.

  18. Mobility Experiences of Adolescents with Cerebral Palsy

    Science.gov (United States)

    Palisano, Robert J.; Shimmell, Lorie J.; Stewart, Debra; Lawless, John J.; Rosenbaum, Peter L.; Russell, Dianne J.

    2009-01-01

    The purpose of this study was to describe how youth with cerebral palsy experience mobility in their daily lives using a phenomenological approach. The participants were 10 youth with cerebral palsy, 17 to 20 years of age, selected using purposeful sampling with maximum variation strategies. A total of 14 interviews were completed. Transcripts…

  19. Klinefelter′s syndrome associated with progressive muscular atrophy simulating Kennedy′s disease

    Directory of Open Access Journals (Sweden)

    Pedro Enrique Jiménez Caballero

    2012-01-01

    Full Text Available Kennedy′s disease, an X-linked spinal and bulbar muscular atrophy, is characterized by loss of lower motor neurons. Mild sensory deficits, gynecomastia and infertility may be observed. Klinefelter′s syndrome is a variation of sex chromosome disorder characterized by hypogonadism, gynecomastia and azoospermia, and the most frequent karyotype is XXY. A 55-year-old man who presented with slowly progressive and diffuse neurogenic muscle atrophy without bulbar or sensory symptoms. He also had Klinefelter′s syndrome. Genetic study of Kennedy′s disease was normal. Our patient differs from those with Kennedy′s disease in the absence of bulbar and sensory symptoms. It is suggested that the X chromosome plays an important role in the biology of motor neurons.

  20. POSTOPERATIVE MUSCLE SPASM IN A CHILD WITH CEREBRAL PALSY: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Sanmuga Piriya

    2014-10-01

    Full Text Available Cerebral palsy is a non-progressive motor disorder which occurs due to hypoxic insult to fetus during perinatal period. These children often present for elective surgical procedures to correct various deformities. Peri-operative care of a child with cerebral palsy is a real challenge to the anaesthetics because of associated comorbidities. Yet another problem in these patients is behavior abnormality and difficulty in communication. Therefore regional anaesthesia is usually combined with general anaesthesia and not used alone. The two most important anaesthetics concerns in these patients are hypothermia and post-operative muscle spasm. Epidural analgesia is the most effective method of post-operative pain relief. Even though opioids can be used for post-operative analgesia, clonidine is more effective in relieving post-operative muscle spasm. In this case report we have discussed about the anesthetic management and postoperative muscle spasm in a child with cerebral palsy.

  1. Peripheral androgen receptor gene suppression rescues disease in mouse models of spinal and bulbar muscular atrophy.

    Science.gov (United States)

    Lieberman, Andrew P; Yu, Zhigang; Murray, Sue; Peralta, Raechel; Low, Audrey; Guo, Shuling; Yu, Xing Xian; Cortes, Constanza J; Bennett, C Frank; Monia, Brett P; La Spada, Albert R; Hung, Gene

    2014-05-01

    Spinal and bulbar muscular atrophy (SBMA) is caused by the polyglutamine androgen receptor (polyQ-AR), a protein expressed by both lower motor neurons and skeletal muscle. Although viewed as a motor neuronopathy, data from patients and mouse models suggest that muscle contributes to disease pathogenesis. Here, we tested this hypothesis using AR113Q knockin and human bacterial artificial chromosome/clone (BAC) transgenic mice that express the full-length polyQ-AR and display androgen-dependent weakness, muscle atrophy, and early death. We developed antisense oligonucleotides that suppressed AR gene expression in the periphery but not the CNS after subcutaneous administration. Suppression of polyQ-AR in the periphery rescued deficits in muscle weight, fiber size, and grip strength, reversed changes in muscle gene expression, and extended the lifespan of mutant males. We conclude that polyQ-AR expression in the periphery is an important contributor to pathology in SBMA mice and that peripheral administration of therapeutics should be explored for SBMA patients.

  2. Minor cognitive disturbances in X-linked spinal and bulbar muscular atrophy, Kennedy's disease.

    Science.gov (United States)

    Kasper, Elisabeth; Wegrzyn, Martin; Marx, Ivo; Korp, Christin; Kress, Wolfram; Benecke, Reiner; Teipel, Stefan J; Prudlo, Johannes

    2014-03-01

    Spinal and bulbar muscular atrophy (SBMA), Kennedy's disease, is an adult-onset hereditary neurodegenerative disorder, associated predominantly with a lower motor neuron syndrome and eventually endocrine and sensory disturbances. In contrast to other motor neuron diseases such as amyotrophic lateral sclerosis (ALS), the impairment of cognition in SBMA is not well documented. We conducted a systematic cross-sectional neuropsychological study in order to investigate cognition in SBMA patients more thoroughly. We investigated 20 genetically proven SBMA patients compared to 20 age- and education-matched control subjects using a comprehensive neuropsychological test battery, measuring executive functioning, attention, memory and visuospatial abilities. The SBMA patients performed significantly worse than healthy controls in three sub-tests in the executive and attention domains. This low performance was in the working memory (digit span backward task), verbal fluency category (single letter fluency task) and memory storage capacity (digit span forward task). No disturbances were detected in other cognitive domains. The impairments were subclinical and not relevant to the patients' everyday functioning. In addition, no correlations were found between cognitive scores and the CAG repeat length. In conclusion, we found minor cognitive disturbances in patients with SBMA, which could indicate subtle frontal lobe dysfunction. These findings extend our neurobiological understanding of SBMA.

  3. Peripheral Androgen Receptor Gene Suppression Rescues Disease in Mouse Models of Spinal and Bulbar Muscular Atrophy

    Directory of Open Access Journals (Sweden)

    Andrew P. Lieberman

    2014-05-01

    Full Text Available Spinal and bulbar muscular atrophy (SBMA is caused by the polyglutamine androgen receptor (polyQ-AR, a protein expressed by both lower motor neurons and skeletal muscle. Although viewed as a motor neuronopathy, data from patients and mouse models suggest that muscle contributes to disease pathogenesis. Here, we tested this hypothesis using AR113Q knockin and human bacterial artificial chromosome/clone (BAC transgenic mice that express the full-length polyQ-AR and display androgen-dependent weakness, muscle atrophy, and early death. We developed antisense oligonucleotides that suppressed AR gene expression in the periphery but not the CNS after subcutaneous administration. Suppression of polyQ-AR in the periphery rescued deficits in muscle weight, fiber size, and grip strength, reversed changes in muscle gene expression, and extended the lifespan of mutant males. We conclude that polyQ-AR expression in the periphery is an important contributor to pathology in SBMA mice and that peripheral administration of therapeutics should be explored for SBMA patients.

  4. Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia.

    Science.gov (United States)

    Lund, A; Udd, B; Juvonen, V; Andersen, P M; Cederquist, K; Ronnevi, L O; Sistonen, P; Sörensen, S A; Tranebjaerg, L; Wallgren-Pettersson, C; Savontaus, M L

    2000-08-01

    We haplotyped 13 Finnish, 10 Swedish, 12 Danish and 2 Norwegian SBMA (spinal and bulbar muscular atrophy, Kennedy disease) families with a total of 45 patients and 7 carriers for 17 microsatellite markers spanning a 25.2 cM region around the androgen receptor gene on chromosome Xq11-q12 in search of a genetic founder effect. In addition, the haplotypes of 50 Finnish, 20 Danish and 22 Swedish control males were examined. All the Scandinavian SBMA families shared the same 18 repeat allele for the intragenic GGC repeat, which was present in only 24% of the controls. Linkage disequilibrium was also seen for the closest microsatellite markers. In addition, extended haplotypes of the Finnish, Swedish and Danish SBMA families revealed country-specific common founder haplotypes, which over time became gradually shortened by recombinations. No common haplotype was found among the controls. The data suggest that the SBMA mutation was introduced into western Finland 20 generations ago. Haplotype analysis implies a common ancestor for the majority of Scandinavian SBMA patients.

  5. MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy.

    Science.gov (United States)

    Pourshafie, Naemeh; Lee, Philip R; Chen, Ke-Lian; Harmison, George G; Bott, Laura C; Katsuno, Masahisa; Sobue, Gen; Burnett, Barrington G; Fischbeck, Kenneth H; Rinaldi, Carlo

    2016-05-01

    Spinal and bulbar muscular atrophy (SBMA) is a currently untreatable adult-onset neuromuscular disease caused by expansion of a polyglutamine repeat in the androgen receptor (AR). In SBMA, as in other polyglutamine diseases, a toxic gain of function in the mutant protein is an important factor in the disease mechanism; therefore, reducing the mutant protein holds promise as an effective treatment strategy. In this work, we evaluated a microRNA (miRNA) to reduce AR expression. From a list of predicted miRNAs that target human AR, we selected microRNA-298 (miR-298) for its ability to downregulate AR mRNA and protein levels when transfected in cells overexpressing wild-type and mutant AR and in SBMA patient-derived fibroblasts. We showed that miR-298 directly binds to the 3'-untranslated region of the human AR transcript, and counteracts AR toxicity in vitro. Intravenous delivery of miR-298 with adeno-associated virus serotype 9 vector resulted in efficient transduction of muscle and spinal cord and amelioration of the disease phenotype in SBMA mice. Our findings support the development of miRNAs as a therapeutic strategy for SBMA and other neurodegenerative disorders caused by toxic proteins.

  6. Goblet cells of the normal human bulbar conjunctiva and their assessment by impression cytology sampling.

    Science.gov (United States)

    Doughty, Michael J

    2012-07-01

    Goblet cells of the conjunctiva are the main source of mucus for the ocular surface. The objectives of this review are to consider the goblet cells as assessed by various histological, cytological and electron microscopy methods, and to assess the consistency of published reports (over more than 25 years) of goblet cell density (GCD) from impression cytology specimens from nominally healthy human subjects. Reported GCD values have been notably variable, with a range from 24 to 2226 cells/mm² for average values. Data analysis suggests that a high density of goblet cells should be expected for the healthy human conjunctiva, with a tendency toward higher values in samples taken from normally covered locations (inferior and superior bulbar conjunctiva) of the open eye (at 973 +/- 789 cells/ mm²) than in samples taken from exposed (interpalpebral) locations (at 427 +/- 376 cells/mm²). No obvious change in GCD was found with respect to age, perhaps because the variability of the data did not allow detection of any age-related decline in GCD. Analyses of published data from 33 other sources indicated a trend for GCD to be lower than normal across a spectrum of ocular surface diseases.

  7. The neuropathological signature of bulbar-onset ALS: A systematic review.

    Science.gov (United States)

    Shellikeri, S; Karthikeyan, V; Martino, R; Black, S E; Zinman, L; Keith, J; Yunusova, Y

    2017-02-02

    ALS is a multisystem disorder affecting motor and cognitive functions. Bulbar-onset ALS (bALS) may be preferentially associated with cognitive and language impairments, compared with spinal-onset ALS (sALS), stemming from a potentially unique neuropathology. The objective of this systematic review was to compare neuropathology findings reported for bALS and sALS subtypes in studies of cadaveric brains. Using Cochrane guidelines, we reviewed articles in MEDLINE, Embase, and PsycINFO databases using standardized search terms for ALS and neuropathology, from inception until July 16th 2016. 17 studies were accepted for analysis. The analysis revealed that both subtypes presented with involvement in motor and frontotemporal cortices, deep cortical structures, and cerebellum and were characterized by neuronal loss, spongiosis, myelin pallor, and ubiquitin+ and TDP43+ inclusion bodies. Changes in Broca and Wernicke areas - regions associated with speech and language processing - were noted exclusively in bALS. Further, some bALS cases presented with atypical pathology such as neurofibrillary tangles and basophilic inclusions, which were not found in sALS cases. Given the limited number of studies, all with methodological biases, further work is required to better understand neuropathology of ALS subtypes.

  8. Determination of Structural and Morphological Parameters of Human Bulbar Conjunctiva from Optical Diffuse Reflectance Spectra

    Science.gov (United States)

    Lisenko, S. A.; Firago, V. A.; Kugeiko, M. M.; Kubarko, A. I.

    2016-09-01

    We have developed a method for on-the-fl y retrieval of the volume concentration of blood vessels, the average diameter of the blood vessels, the blood oxygenation level, and the molar concentrations of chromophores in the bulbar conjunctiva from its diffuse reflectance spectra, measured when the radiation delivery and detection channels are spatially separated. The relationship between the diffuse reflectance spectrum of the conjunctiva and its unknown parameters is described in terms of an analytical model, constructed on the basis of a highly accurate approximation analog of the Monte Carlo method. We have studied the effect of localization of hemoglobin in erythrocytes and localization of erythrocytes in the blood vessels on the power of the retrieval of structural and morphological parameters for the conjunctiva. We developed a device for obtaining video images of the conjunctiva and contactless measurements of its diffuse reflectance spectrum. By comparing simulated diffuse reflectance spectra of the conjunctiva with the experimental measurements, we established a set of chromophores which must be taken into account in the model for reproducing the experimental data within the measurement error. We observed absorption bands for neuroglobin in the experimental spectra, and provided a theoretical basis for the possibility of determining its absolute concentrations in the conjunctiva. We have shown that our method can detect low bilirubin concentrations in blood.

  9. Pontine stroke presenting as isolated facial nerve palsy mimicking Bell's palsy: a case report

    OpenAIRE

    Saluja Paramveer; Manandhar Lochana; Agarwal Rishi; Grandhi Bala

    2011-01-01

    Abstract Introduction Isolated facial nerve palsy usually manifests as Bell's palsy. Lacunar infarct involving the lower pons is a rare cause of solitary infranuclear facial paralysis. The present unusual case is one in which the patient appeared to have Bell's palsy but turned out to have a pontine infarct. Case presentation A 47-year-old Asian Indian man with a medical history of hypertension presented to our institution with nausea, vomiting, generalized weakness, facial droop, and slurred...

  10. Validation of a cerebral palsy register

    DEFF Research Database (Denmark)

    Topp, Monica Wedell; Langhoff-Roos, J; Uldall, P

    1997-01-01

    OBJECTIVES: To analyse completeness and validity of data in the Cerebral Palsy Register in Denmark, 1979-1982. METHODS: Completeness has been assessed by comparing data from The Danish National Patient Register (DNPR) with the cases included in the Cerebral Palsy Register (CPR). Agreement between......, but gestational age was subject to a systematic error, and urinary infections in pregnancy (kappa = 0.43) and placental abruption (kappa = 0.52) were seriously under-reported in the CPR. CONCLUSIONS: Completeness of the Cerebral Palsy Register in Denmark, 1979-1982, has been assessed to maximal 85%, emphasizing...

  11. I can't move my face! a case of bilateral facial palsy.

    Science.gov (United States)

    Greenberg, Marna Rayl; Urquhart, Megan C; Eygnor, Jessica K; Worrilow, Charles C; Gesell, Nicole Ceccacci; Porter, Bernadette Glenn; Miller, Andrew C

    2013-10-01

    The authors present a case of bilateral facial palsy in a 52-year-old man. The patient presented to an emergency department in Pennsylvania, describing left-sided neck pain and headache from "sleeping wrong," symptoms which eventually progressed to facial diplegia by his fourth visit in 2 weeks. His admitting diagnosis was Bell palsy; he was ultimately tested for and found to have Lyme disease. Delay in treatment of patients with Lyme disease may lead to bilateral facial paralysis and disease progression. Thorough history taking, physical examination, and scrutiny of prior records are important elements of identifying and treating patients such as these (ie, whose vague symptoms progress to facial diplegia) appropriately.

  12. MR findings of cerebral palsy

    Energy Technology Data Exchange (ETDEWEB)

    Yoon, Sang Hum; Chang, Seung Kuk; Cho, Mee Young; Park, Dong Woo; Kim, Jong Deok; Eun, Choong Ki [Pusan Paik Hospital, Pusan (Korea, Republic of)

    1994-11-15

    To evaluate the MR findings of brain damage in cerebral palised patients and to correlate it with gestational age and the time of damage. A retrospective analysis was performed in 40 patients who underwent MR scanning for evaluation of brain lesion in clinically diagnosed cerebral palsy. Authors classified the patients into two groups as premature and full-term and compared MR findings of the two groups. Abnormal MR findings were noted in 28 cases (70%). Five out of 6 patients who had been born prematurely showed isolate periventricular white matter lesions. Twenty-three out of 34 patients who had been born at full-term showed abnormal MR findings. Of these 23 patients, migration anomalies in 7 patients, isolate periventricular white matter lesions in 3 patients, and other combined periventricular subcortical white matter and deep gray matter lesions in 14 patients were seen. At least, 10 patients(43%) of full term group showed abnormal MRI findings reflecting intrauterine brain damage and all 5 patients of premature group showed isolate periventricular white matter lesions suggesting immaturity of brain. MRI is thought to be very useful in the assessment of brain damage for the patients with cerebral palsy by recognizing the location of the lesion and estimating the time of damage.

  13. Clearance of the mutant androgen receptor in motoneuronal models of spinal and bulbar muscular atrophy.

    Science.gov (United States)

    Rusmini, Paola; Crippa, Valeria; Giorgetti, Elisa; Boncoraglio, Alessandra; Cristofani, Riccardo; Carra, Serena; Poletti, Angelo

    2013-11-01

    Spinal and bulbar muscular atrophy (SBMA) is an X-linked motoneuron disease caused by an abnormal expansion of a tandem CAG repeat in exon 1 of the androgen receptor (AR) gene that results in an abnormally long polyglutamine tract (polyQ) in the AR protein. As a result, the mutant AR (ARpolyQ) misfolds, forming cytoplasmic and nuclear aggregates in the affected neurons. Neurotoxicity only appears to be associated with the formation of nuclear aggregates. Thus, improved ARpolyQ cytoplasmic clearance, which indirectly decreases ARpolyQ nuclear accumulation, has beneficial effects on affected motoneurons. In addition, increased ARpolyQ clearance contributes to maintenance of motoneuron proteostasis and viability, preventing the blockage of the proteasome and autophagy pathways that might play a role in the neuropathy in SBMA. The expression of heat shock protein B8 (HspB8), a member of the small heat shock protein family, is highly induced in surviving motoneurons of patients affected by motoneuron diseases, where it seems to participate in the stress response aimed at cell protection. We report here that HspB8 facilitates the autophagic removal of misfolded aggregating species of ARpolyQ. In addition, though HspB8 does not influence p62 and LC3 (two key autophagic molecules) expression, it does prevent p62 bodies formation, and restores the normal autophagic flux in these cells. Interestingly, trehalose, a well-known autophagy stimulator, induces HspB8 expression, suggesting that HspB8 might act as one of the molecular mediators of the proautophagic activity of trehalose. Collectively, these data support the hypothesis that treatments aimed at restoring a normal autophagic flux that result in the more efficient clearance of mutant ARpolyQ might produce beneficial effects in SBMA patients.

  14. Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients.

    Science.gov (United States)

    Borgia, Doriana; Malena, Adriana; Spinazzi, Marco; Andrea Desbats, Maria; Salviati, Leonardo; Russell, Aaron P; Miotto, Giovanni; Tosatto, Laura; Pegoraro, Elena; Sorarù, Gianni; Pennuto, Maria; Vergani, Lodovica

    2017-01-13

    Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by polyglutamine expansion in the androgen receptor (AR) and characterized by the loss of lower motor neurons. Here we investigated pathological processes occurring in muscle biopsy specimens derived from SBMA patients and, as controls, age-matched healthy subjects and patients suffering from amyotrophic lateral sclerosis (ALS) and neurogenic atrophy. We detected atrophic fibers in the muscle of SBMA, ALS and neurogenic atrophy patients. In addition, SBMA muscle was characterized by the presence of a large number of hypertrophic fibers, with oxidative fibers having a larger size compared to glycolytic fibers. Polyglutamine-expanded AR expression was decreased in whole muscle, yet enriched in the nucleus, and localized to mitochondria. Ultrastructural analysis revealed myofibrillar disorganization and streaming in zones lacking mitochondria and degenerating mitochondria. Using molecular (mtDNA copy number), biochemical (citrate synthase and respiratory chain enzymes) and morphological (dark blue area in NADH-stained muscle cross sections) analyses, we found a depletion of the mitochondria associated with enhanced mitophagy. Mass spectrometry analysis revealed an increase of phosphatidylethanolamines and phosphatidylserines in mitochondria isolated from SBMA muscles, as well as a 50% depletion of cardiolipin associated with decreased expression of the cardiolipin synthase gene. These observations suggest a causative link between nuclear polyglutamine-expanded AR accumulation, depletion of mitochondrial mass, increased mitophagy and altered mitochondrial membrane composition in SBMA muscle patients. Given the central role of mitochondria in cell bioenergetics, therapeutic approaches towards improving the mitochondrial network are worth considering to support SBMA patients.

  15. Correlation of insulin resistance and motor function in spinal and bulbar muscular atrophy.

    Science.gov (United States)

    Nakatsuji, Hideaki; Araki, Amane; Hashizume, Atsushi; Hijikata, Yasuhiro; Yamada, Shinichiro; Inagaki, Tomonori; Suzuki, Keisuke; Banno, Haruhiko; Suga, Noriaki; Okada, Yohei; Ohyama, Manabu; Nakagawa, Tohru; Kishida, Ken; Funahashi, Tohru; Shimomura, Iichiro; Okano, Hideyuki; Katsuno, Masahisa; Sobue, Gen

    2017-02-22

    This study aimed to evaluate various metabolic parameters in patients with spinal and bulbar muscular atrophy (SBMA), to investigate the association between those indices and disease severity, and to explore the underlying molecular pathogenesis. We compared the degree of obesity, metabolic parameters, and blood pressure in 55 genetically confirmed SBMA patients against those in 483 age- and sex-matched healthy control. In SBMA patients, we investigated the correlation between these factors and motor functional indices. SBMA patients had lower body mass index, blood glucose, and Hemoglobin A1c, but higher blood pressure, homeostasis model assessment of insulin resistance (HOMA-IR, a marker of insulin resistance), total cholesterol, and adiponectin levels than the control subjects. There were no differences in visceral fat areas, high-density lipoprotein-cholesterol (HDL-C), or triglyceride levels in two groups. Revised amyotrophic lateral sclerosis functional rating scale (ALSFRS-R) correlated positively with HDL-C, but negatively with HOMA-IR. Through stepwise multiple regression analysis, we identified HOMA-IR as a significant metabolic determinant of ALSFRS-R. In biochemical analysis, we found that decreased expressions of insulin receptors, insulin receptor substrate-1 and insulin receptor-β, in autopsied muscles and fibroblasts of SBMA patients. This study demonstrates that SBMA patients have insulin resistance, which is associated with the disease severity. The expressions of insulin receptors are attenuated in the skeletal muscle of SBMA, providing a possible pathomechanism of metabolic alterations. These findings suggested that insulin resistance is a metabolic index reflecting disease severity and pathogenesis as well as a potential therapeutic target for SBMA.

  16. Androgen-dependent impairment of myogenesis in spinal and bulbar muscular atrophy.

    Science.gov (United States)

    Malena, Adriana; Pennuto, Maria; Tezze, Caterina; Querin, Giorgia; D'Ascenzo, Carla; Silani, Vincenzo; Cenacchi, Giovanna; Scaramozza, Annarita; Romito, Silvia; Morandi, Lucia; Pegoraro, Elena; Russell, Aaron P; Sorarù, Gianni; Vergani, Lodovica

    2013-07-01

    Spinal and bulbar muscular atrophy (SBMA) is an inherited neuromuscular disease caused by expansion of a polyglutamine (polyQ) tract in the androgen receptor (AR). SBMA is triggered by the interaction between polyQ-AR and its natural ligands, testosterone and dihydrotestosterone (DHT). SBMA is characterized by the loss of lower motor neurons and skeletal muscle fasciculations, weakness, and atrophy. To test the hypothesis that the interaction between polyQ-AR and androgens exerts cell-autonomous toxicity in skeletal muscle, we characterized the process of myogenesis and polyQ-AR expression in DHT-treated satellite cells obtained from SBMA patients and age-matched healthy control subjects. Treatment with androgens increased the size and number of myonuclei in myotubes from control subjects, but not from SBMA patients. Myotubes from SBMA patients had a reduced number of nuclei, suggesting impaired myotube fusion and altered contractile structures. The lack of anabolic effects of androgens on myotubes from SBMA patients was not due to defects in myoblast proliferation, differentiation or apoptosis. DHT treatment of myotubes from SBMA patients increased nuclear accumulation of polyQ-AR and decreased the expression of interleukin-4 (IL-4) when compared to myotubes from control subjects. Following DHT treatment, exposure of myotubes from SBMA patients with IL-4 treatment rescued myonuclear number and size to control levels. This supports the hypothesis that androgens alter the fusion process in SBMA myogenesis. In conclusion, these results provide evidence of an androgen-dependent impairment of myogenesis in SBMA that could contribute to disease pathogenesis.

  17. Bulbar microcircuit model predicts connectivity and roles of interneurons in odor coding.

    Directory of Open Access Journals (Sweden)

    Aditya Gilra

    Full Text Available Stimulus encoding by primary sensory brain areas provides a data-rich context for understanding their circuit mechanisms. The vertebrate olfactory bulb is an input area having unusual two-layer dendro-dendritic connections whose roles in odor coding are unclear. To clarify these roles, we built a detailed compartmental model of the rat olfactory bulb that synthesizes a much wider range of experimental observations on bulbar physiology and response dynamics than has hitherto been modeled. We predict that superficial-layer inhibitory interneurons (periglomerular cells linearize the input-output transformation of the principal neurons (mitral cells, unlike previous models of contrast enhancement. The linearization is required to replicate observed linear summation of mitral odor responses. Further, in our model, action-potentials back-propagate along lateral dendrites of mitral cells and activate deep-layer inhibitory interneurons (granule cells. Using this, we propose sparse, long-range inhibition between mitral cells, mediated by granule cells, to explain how the respiratory phases of odor responses of sister mitral cells can be sometimes decorrelated as observed, despite receiving similar receptor input. We also rule out some alternative mechanisms. In our mechanism, we predict that a few distant mitral cells receiving input from different receptors, inhibit sister mitral cells differentially, by activating disjoint subsets of granule cells. This differential inhibition is strong enough to decorrelate their firing rate phases, and not merely modulate their spike timing. Thus our well-constrained model suggests novel computational roles for the two most numerous classes of interneurons in the bulb.

  18. Bulbar microcircuit model predicts connectivity and roles of interneurons in odor coding.

    Science.gov (United States)

    Gilra, Aditya; Bhalla, Upinder S

    2015-01-01

    Stimulus encoding by primary sensory brain areas provides a data-rich context for understanding their circuit mechanisms. The vertebrate olfactory bulb is an input area having unusual two-layer dendro-dendritic connections whose roles in odor coding are unclear. To clarify these roles, we built a detailed compartmental model of the rat olfactory bulb that synthesizes a much wider range of experimental observations on bulbar physiology and response dynamics than has hitherto been modeled. We predict that superficial-layer inhibitory interneurons (periglomerular cells) linearize the input-output transformation of the principal neurons (mitral cells), unlike previous models of contrast enhancement. The linearization is required to replicate observed linear summation of mitral odor responses. Further, in our model, action-potentials back-propagate along lateral dendrites of mitral cells and activate deep-layer inhibitory interneurons (granule cells). Using this, we propose sparse, long-range inhibition between mitral cells, mediated by granule cells, to explain how the respiratory phases of odor responses of sister mitral cells can be sometimes decorrelated as observed, despite receiving similar receptor input. We also rule out some alternative mechanisms. In our mechanism, we predict that a few distant mitral cells receiving input from different receptors, inhibit sister mitral cells differentially, by activating disjoint subsets of granule cells. This differential inhibition is strong enough to decorrelate their firing rate phases, and not merely modulate their spike timing. Thus our well-constrained model suggests novel computational roles for the two most numerous classes of interneurons in the bulb.

  19. 脊髓延髓肌肉萎缩症的临床特点%Clinical features of spinal and bulbar muscular atrophy

    Institute of Scientific and Technical Information of China (English)

    丛琳; 潘钰

    2012-01-01

    Objective To explore the elinical features of spinal and bulbar muscular atrophy(SBMA). Method The clinical data of 8 SBMA patients diagnosed by gene were analyzed retrospectively. Result All of the patients in ihis group were young middle-aped men. The initial symploin was weakness of lower limbs in 3 cases, myasthenia of limbs m 1 cast, harymastia in 2 cases, upper limbs postural tremor in 2 cases,. The main manifestations were progressive lower limbs and muscular atrophy. There was relatively serious in lower limbs, and the disease progresses slowly. All the patients have fascie, and upper limbs postural tremor was in 3 cases, tongue muscles atrophy and tremor in 5 cases, barymastia in 4 cases, and sexual function decrement in 2 cases. The serum creatine kinase was increased in all the patients, lipid abnormality in 5 cases, and sex hormones abnormality in 7 cases. Electromyogram (EMG) showed a wide range of neurogenic damage. The number of (CAG)n repeat in androgen receptors ( AR) gene was above 40. Conclusions SBMA shows a slowly progressing lower motor neuron paralysis and atrophy in spinal and bulbar muscles. The definite diagnosis of SBMA disease should he made by delecting the number of (CAG)n repeat of androgen receptor gene.%目的 探讨脊髓延髓肌肉萎缩症(SBMA)的临床特点.方法 对8例基因确诊的SBMA患者的临床资料进行回顾性分析.结果 本组患者均为中青年男性.首发症状为双下胺无力3例,四肢无力1例,乳房增大2例,双上肢姿位性震颤2例.主要临床表现为进行性肢体无力、肌肉萎缩,下肢重,病情进展缓慢.患者均出现束颤,出现双上肢姿位性震颤3例,舌肌萎缩和震颤5例,乳房增大4例,性功能减退2例.血清肌酸激酶均增高,血脂异常5例,性激素水平异常7例.肌电图均呈广泛神经源性损害.雄激素受体(AR)基因CAG重复序列数均>40次.结论 SBMA主要表现为缓慢进展的脊髓和延髓下运动神经元性瘫痪,确诊

  20. The clinical and electrophysiological features of patients with spinal and bulbar muscular atrophy%脊髓延髓肌萎缩症临床及电生理特点分析

    Institute of Scientific and Technical Information of China (English)

    陈海; 笪宇威; 李韵; 张新卿; 贾建平

    2011-01-01

    Objective To analyze the clinical features of 5 Chinese patients with spinal and bulbar muscular atrophy ( SBMA ), a sex-linked inheritance disorder. Methods We collected the clinical data of 5 SBMA patients whose diagnosis were confirmed by gene examination to analyze their clinical features, as well as their serum levels of sex hormones, CSF, biochemical indicators and electromyogram. Results Patients with spinal and bulbar and muscular atrophy tend to have an adult onset, exhibiting a slow progression of lower motor neuronal weakness and atrophy involving limbs and bulbar zones. There was mild motor functional lesion. Part of the invalids presented signs of androgen insensitivity such as gynecomastia, the level of testosterone were increased. CAG were 43-51 ( mean 47. 2 ±3. 6). The degrees of creatine kinase( 481. 8 ±264. 8 IU/L ) were increased mildly. CSF were normal. Electromyogram had generally changes derived from lower motor neuron. Conclusions Basically, the clinical features of Chinese SBMA patients presents adult onset, slow progression of lower motor neuronal weakness and atrophy involving limbs and bulbar zones.%目的 分析5例脊髓延髓肌萎缩症患者的临床特征,以便临床医生对该病的认识.方法 收集基因确诊的5例脊髓延髓肌萎缩症患者的临床资料,分析其临床特点及血清性激素、各生化指标水平、脑脊液及肌电图特点.结果 脊髓延髓肌萎缩症患者青年发病,病情进展缓慢.神经系统表现为以肢体近端和延髓部受累为主的瘫痪.舌肌受累较早,运动功能损害较轻.血清睾酮(969.3±234.9ng/dl)、雌二醇(57.1±5.3pg/ml)水平增高,男性乳腺发育出现在病史较长的患者.三核苷酸(CAG)重复序列数目43~51(平均47.2±3.6pg/ml).患者的肌酸激酶(CK,481.8±264.8 IU/L)均增高,脑脊液检查均正常.肌电图为广泛神经源性损害.结论 脊髓延髓肌萎缩症患者的早期症状不典型,易误诊,临床特征为青年起

  1. Pontine stroke presenting as isolated facial nerve palsy mimicking Bell's palsy: a case report

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    Saluja Paramveer

    2011-07-01

    Full Text Available Abstract Introduction Isolated facial nerve palsy usually manifests as Bell's palsy. Lacunar infarct involving the lower pons is a rare cause of solitary infranuclear facial paralysis. The present unusual case is one in which the patient appeared to have Bell's palsy but turned out to have a pontine infarct. Case presentation A 47-year-old Asian Indian man with a medical history of hypertension presented to our institution with nausea, vomiting, generalized weakness, facial droop, and slurred speech of 14 hours' duration. His physical examination revealed that he was conscious, lethargic, and had mildly slurred speech. His blood pressure was 216/142 mmHg. His neurologic examination showed that he had loss of left-sided forehead creases, inability to close his left eye, left facial muscle weakness, rightward deviation of the angle of the mouth on smiling, and loss of the left nasolabial fold. Afferent corneal reflexes were present bilaterally. MRI of the head was initially read as negative for acute stroke. Bell's palsy appeared less likely because of the acuity of his presentation, encephalopathy-like imaging, and hypertension. The MRI was re-evaluated with a neurologist's assistance, which revealed a tiny 4 mm infarct involving the left dorsal aspect of the pons. The final diagnosis was isolated facial nerve palsy due to lacunar infarct of dorsal pons and hypertensive encephalopathy. Conclusion The facial nerve has a predominant motor component which supplies all muscles concerned with unilateral facial expression. Anatomic knowledge is crucial for clinical localization. Bell's palsy accounts for around 72% of facial palsies. Other causes such as tumors and pontine infarcts can also present as facial palsy. Isolated dorsal infarct presenting as isolated facial palsy is very rare. Our case emphasizes that isolated facial palsy should not always be attributed to Bell's palsy. It can be a presentation of a rare dorsal pontine infarct as observed

  2. Management of peripheral facial nerve palsy.

    Science.gov (United States)

    Finsterer, Josef

    2008-07-01

    Peripheral facial nerve palsy (FNP) may (secondary FNP) or may not have a detectable cause (Bell's palsy). Three quarters of peripheral FNP are primary and one quarter secondary. The most prevalent causes of secondary FNP are systemic viral infections, trauma, surgery, diabetes, local infections, tumor, immunological disorders, or drugs. The diagnosis of FNP relies upon the presence of typical symptoms and signs, blood chemical investigations, cerebro-spinal-fluid-investigations, X-ray of the scull and mastoid, cerebral MRI, or nerve conduction studies. Bell's palsy may be diagnosed after exclusion of all secondary causes, but causes of secondary FNP and Bell's palsy may coexist. Treatment of secondary FNP is based on the therapy of the underlying disorder. Treatment of Bell's palsy is controversial due to the lack of large, randomized, controlled, prospective studies. There are indications that steroids or antiviral agents are beneficial but also studies, which show no beneficial effect. Additional measures include eye protection, physiotherapy, acupuncture, botulinum toxin, or possibly surgery. Prognosis of Bell's palsy is fair with complete recovery in about 80% of the cases, 15% experience some kind of permanent nerve damage and 5% remain with severe sequelae.

  3. Tumors Presenting as Multiple Cranial Nerve Palsies

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    Kishore Kumar

    2017-04-01

    Full Text Available Cranial nerve palsy could be one of the presenting features of underlying benign or malignant tumors of the head and neck. The tumor can involve the cranial nerves by local compression, direct infiltration or by paraneoplastic process. Cranial nerve involvement depends on the anatomical course of the cranial nerve and the site of the tumor. Patients may present with single or multiple cranial nerve palsies. Multiple cranial nerve involvement could be sequential or discrete, unilateral or bilateral, painless or painful. The presentation could be acute, subacute or recurrent. Anatomic localization is the first step in the evaluation of these patients. The lesion could be in the brain stem, meninges, base of skull, extracranial or systemic disease itself. We present 3 cases of underlying neoplasms presenting as cranial nerve palsies: a case of glomus tumor presenting as cochlear, glossopharyngeal, vagus and hypoglossal nerve palsies, clivus tumor presenting as abducens nerve palsy, and diffuse large B-cell lymphoma presenting as oculomotor, trochlear, trigeminal and abducens nerve palsies due to paraneoplastic involvement. History and physical examination, imaging, autoantibodies and biopsy if feasible are useful for the diagnosis. Management outcomes depend on the treatment of the underlying tumor.

  4. Surgical management of third nerve palsy

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    Anupam Singh

    2016-01-01

    Full Text Available Third nerve paralysis has been known to be associated with a wide spectrum of presentation and other associated factors such as the presence of ptosis, pupillary involvement, amblyopia, aberrant regeneration, poor bell′s phenomenon, superior oblique (SO overaction, and lateral rectus (LR contracture. Correction of strabismus due to third nerve palsy can be complex as four out of the six extraocular muscles are involved and therefore should be approached differently. Third nerve palsy can be congenital or acquired. The common causes of isolated third nerve palsy in children are congenital (43%, trauma (20%, inflammation (13%, aneurysm (7%, and ophthalmoplegic migraine. Whereas, in adult population, common etiologies are vasculopathic disorders (diabetes mellitus, hypertension, aneurysm, and trauma. Treatment can be both nonsurgical and surgical. As nonsurgical modalities are not of much help, surgery remains the main-stay of treatment. Surgical strategies are different for complete and partial third nerve palsy. Surgery for complete third nerve palsy may involve supra-maximal recession - resection of the recti. This may be combined with SO transposition and augmented by surgery on the other eye. For partial third nerve, palsy surgery is determined according to nature and extent of involvement of extraocular muscles.

  5. Ocular problems in children with cerebral palsy

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    Esra Ayhan Tuzcu

    2012-09-01

    Full Text Available The aim of this study is to evaluate eye problemsin children with cerebral palsy in our region.Materials and Methods: 90 patients which was diagnosedas cerebral palsy, treated and followed up in PediatricNeurology Department of Mustafa Kemal University,were included to this study. The history was taken, anda physical examination was performed to determine theetiology of the disease and type of SP. All of the patientswere underwent a detailed ophthalmological examinationincluding visual acuity, refractive error, amblyopia, strabismus,nystagmus and fundus examination.Results: Totally 90 patients, 51 male and 39 female,were included to the study. When the etiologic factorswere evaluated, the asphyxia was seen in 33.3% of thepatients. The most common type of cerebral palsy wasspastic quadriplegia at the rate of 43.3%. Eye problemswere detected in 60% of our cases. Of this, 54.4% wererefractive errors, 35.6% were strabismus, and 22.2%were optic nerve pathologies. Amblyopia was found in11.1% of cases. Although strabismus is more common inspastic diplegia type of cerebral palsy, there was no statisticallysignificant differenceConclusions: In conclusion, eye problems are commonin children with cerebral palsy. Therefore, we recommendroutine eye examination in these patients due to be beneficialin reducing the detection and communication difficulties.Key words: Cerebral palsy, refractive error, strabismus,optic atrophy

  6. 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

    2002-01-01

    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 lon

  7. Bell's palsy before Bell: Cornelis Stalpart van der Wiel's observation of Bell's palsy in 1683.

    Science.gov (United States)

    van de Graaf, Robert C; Nicolai, Jean-Philippe A

    2005-11-01

    Bell's palsy is named after Sir Charles Bell (1774-1842), who has long been considered to be the first to describe idiopathic facial paralysis in the early 19th century. However, it was discovered that Nicolaus Anton Friedreich (1761-1836) and James Douglas (1675-1742) preceded him in the 18th century. Recently, an even earlier account of Bell's palsy was found, as observed by Cornelis Stalpart van der Wiel (1620-1702) from The Hague, The Netherlands in 1683. Because our current knowledge of the history of Bell's palsy before Bell is limited to a few documents, it is interesting to discuss Stalpart van der Wiel's description and determine its additional value for the history of Bell's palsy. It is concluded that Cornelis Stalpart van der Wiel was the first to record Bell's palsy in 1683. His manuscript provides clues for future historical research.

  8. Cerebral palsy in preterm infants

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    Demeši-Drljan Čila

    2016-01-01

    Full Text Available Background/Aim. Cerebral palsy (CP is one of the leading causes of neurological impairment in childhood. Preterm birth is a significant risk factor in the occurrence of CP. Clinical outcomes may include impairment of gross motor function and intellectual abilities, visual impairment and epilepsy. The aim of this study was to examine the relationships among gestational age, type of CP, functional ability and associated conditions. Methods. The sample size was 206 children with CP. The data were obtained from medical records and included gestational age at birth, clinical characteristics of CP and associated conditions. Clinical CP type was determined according to Surveillance of Cerebral Palsy in Europe (SCPE and topographically. Gross motor function abilities were evaluated according to the Gross Motor Function Classification System (GMFCS. Results. More than half of the children with CP were born prematurely (54.4%. Statistically significant difference was noted with respect to the distribution of various clinical types of CP in relation to gestational age (p < 0.001. In the group with spastic bilateral CP type, there is a greater proportion of children born preterm. Statistically significant difference was noted in the functional classification based on GMFCS in terms of gestational age (p = 0.049, children born at earlier gestational age are classified at a higher GMFCS level of functional limitation. The greatest percentage of children (70.0% affected by two or more associated conditions was found in the group that had extremely preterm birth, and that number declined with increasing maturity at birth. Epilepsy was more prevalent in children born at greater gestational age, and this difference in distribution was statistically significant (p = 0.032. Conclusion. The application of antenatal and postnatal protection of preterm children should be a significant component of the CP prevention strategy. [Projekat Ministarstva nauke Republike

  9. Gastrostomy tube feeding of children with cerebral palsy

    DEFF Research Database (Denmark)

    Dahlseng, Magnus O; Andersen, Guro L; DA Graca Andrada, Maria

    2012-01-01

    To compare the prevalence of gastrostomy tube feeding (GTF) of children with cerebral palsy (CP) in six European countries.......To compare the prevalence of gastrostomy tube feeding (GTF) of children with cerebral palsy (CP) in six European countries....

  10. Bell's Palsy: Treatment with Steroids and Antiviral Drugs

    Science.gov (United States)

    ... PATIENTS and their FAMILIES BELL’S PALSY: TREATMENT WITH STEROIDS AND ANTIVIRAL DRUGS This information sheet is provided to help you understand the role of steroids and antiviral drugs for treating Bell’s palsy. Neurologists ...

  11. Feasibility and test-retest reliability of measuring lower-limb strength in young children with cerebral palsy

    NARCIS (Netherlands)

    Van Vulpen, L. F.; de Groot, Sonja; Becher, J. G.; De Wolf, G. S.; Dallmeijer, A. J.

    2013-01-01

    BACKGROUND: Quantifying leg muscle strength in young children with cerebral palsy (CP) is essential for identifying muscle groups for treatment and for monitoring progress. AIM: To study the feasibility, intratester reliability and the optimal test design (number of test occasions and repetitions) o

  12. Clinical Practice Guideline of Acupuncture for Bell's Palsy

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    Xi Wu

    2016-10-01

    Full Text Available Backgroud: Acupuncture is common used for Bell's palsy in clinic, however, recent systematic reviews all shows that there is no sufficient evidence to support the effectiveness of acupuncture for Bell's palsy because ofthe poor quality and heterogeneity. It's urgently necessary to develop a guideline of acupuncture for Bell's palsy based on principles of evidence-based medicine to optimize acupuncture treating, standardize outcomes evaluating and to improve the quality of acupuncture for patients with Bell's palsy under general circumstances.

  13. Measuring intellectual ability in cerebral palsy: The comparison of three tests and their neuroimaging correlates.

    Science.gov (United States)

    Ballester-Plané, Júlia; Laporta-Hoyos, Olga; Macaya, Alfons; Póo, Pilar; Meléndez-Plumed, Mar; Vázquez, Élida; Delgado, Ignacio; Zubiaurre-Elorza, Leire; Narberhaus, Ana; Toro-Tamargo, Esther; Russi, Maria Eugenia; Tenorio, Violeta; Segarra, Dolors; Pueyo, Roser

    2016-09-01

    Standard intelligence scales require both verbal and manipulative responses, making it difficult to use in cerebral palsy and leading to underestimate their actual performance. This study aims to compare three intelligence tests suitable for the heterogeneity of cerebral palsy in order to identify which one(s) could be more appropriate to use. Forty-four subjects with bilateral dyskinetic cerebral palsy (26 male, mean age 23 years) conducted the Raven's Coloured Progressive Matrices (RCPM), the Peabody Picture Vocabulary Test-3rd (PPVT-III) and the Wechsler Nonverbal Scale of Ability (WNV). Furthermore, a comprehensive neuropsychological battery and magnetic resonance imaging were assessed. The results show that PPVT-III gives limited information on cognitive performance and brain correlates, getting lower intelligence quotient scores. The WNV provides similar outcomes as RCPM, but cases with severe motor impairment were unable to perform it. Finally, the RCPM gives more comprehensive information on cognitive performance, comprising not only visual but also verbal functions. It is also sensitive to the structural state of the brain, being related to basal ganglia, thalamus and white matter areas such as superior longitudinal fasciculus. So, the RCPM may be considered a standardized easy-to-administer tool with great potential in both clinical and research fields of bilateral cerebral palsy.

  14. CLIVUS METASTASIS PRESENTING AS ISOLATED ABDUCEN S NERVE PALSY – CASE REPORT

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    Chandrashekhar

    2013-10-01

    Full Text Available ABSTRACT: A 50 year old lady with past history of breast carcinoma surgery presented with progressive diplopia of 15 days duration. Examination revealed paresis of right abducens nerve. Though risk factor like Hypertension was present, patient was ordered MRI which showed Clivus and verte bral metastatic foci highly suggestive of metastasis from breast carcinoma. The patient was referred for radiation therapy. Hence, meticulous neuroophthalmic examination and management is necessary to rule out localised metastasis causing isolated abducens nerve palsy.

  15. Therapeutic results in sixth nerve palsy

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    Pruna Violeta-Ioana

    2015-03-01

    Full Text Available Authors aim to assess through a retrospective study the efficiency of different therapeutic methods used in VIth nerve palsy. 60 patients with VIth nerve palsy, admitted and treated in Oftapro Clinic, were divided into two groups: a group with partial dysfunction (paresis of sixth nerve and a group with the complete abolition of neuromuscular function (VIth nerve palsy. Initial examination included assessment of neuromuscular function, binocular vision and existence of medial rectus muscle contracture (ipsi- and contralateral and contralateral lateral rectus inhibitory palsy. Neuromuscular dysfunction was graded from - 8 (paralysis to 0 (normal abduction. Therapeutic modalities ranged from conservative treatment (occlusion, prism correction, botulinum toxin chemodenervation and surgical treatment: medial rectus recession + lateral rectus resection, in cases of paresis, and transposition procedures (Hummelscheim and full tendon transfer in cases of sixth nerve palsy. Functional therapeutic success was defined as absence of diplopia in primary position, with or without prism correction, and surgical success was considered obtaining orthoptic alignment in primary position or a small residual deviation (under 10 PD. 51 patients had unilateral dysfunction, and 9 patients had bilateral VI-th nerve dysfunction. 8 patients had associated fourth or seventh cranial nerves palsy. The most common etiology was traumatic, followed by tumor and vascular causes. There were 18 cases of spontaneous remission, partial or complete (4-8 months after the onset, and 6 cases enhanced by botulinum toxin chemodenervation. 17 paretic eyes underwent surgery, showing a very good outcome, with restoration of binocular single vision. The procedure of choice was recession of medial rectus muscle, combined with resection of lateral rectus muscle. All patients with sixth nerve palsy underwent surgery, except one old female patient, who refused surgery. Hummelscheim procedure was

  16. Using health games for rehabilitation of patients with infantile cerebral palsy

    Science.gov (United States)

    Lee, Wan-Chen; Reyes-Fernández, Miriam C.; Posada-Gómez, Rubén; Juárez-Martínez, Ulises; Martínez-Sibaja, Albino; Alor-Hernández, Giner

    2016-01-01

    [Purpose] The purposes of this study were to evaluate whether the therapeutic games developed by the study team are significantly effective for upper limb rehabilitation of patients with cerebral palsy and to assess the development of the games and the evolution of patients throughout the therapy sessions. [Subjects and Methods] This study demonstrates the results of using therapeutic games in patients with infantile cerebral palsy. The therapies were performed in 30-minute sessions for about 1 to 4 months. This study shows the progress of five children with cerebral palsy during the sessions. The time it took the children on each road and the times required to complete a task were measured. In addition, the level of difficulty of the games was gradually increased at each session. [Results] Results have shown good progress on the accuracy of the movements and an increase in concentration level during the execution of the games, showing an improvement in the patients’ performance by 40–55% faster. [Conclusions] Health games encourage children to comply with therapy. The advantage of the game is that the patient can perform the therapy at home, which could help achieve further progress in patients. PMID:27630417

  17. Using health games for rehabilitation of patients with infantile cerebral palsy.

    Science.gov (United States)

    Lee, Wan-Chen; Reyes-Fernández, Miriam C; Posada-Gómez, Rubén; Juárez-Martínez, Ulises; Martínez-Sibaja, Albino; Alor-Hernández, Giner

    2016-08-01

    [Purpose] The purposes of this study were to evaluate whether the therapeutic games developed by the study team are significantly effective for upper limb rehabilitation of patients with cerebral palsy and to assess the development of the games and the evolution of patients throughout the therapy sessions. [Subjects and Methods] This study demonstrates the results of using therapeutic games in patients with infantile cerebral palsy. The therapies were performed in 30-minute sessions for about 1 to 4 months. This study shows the progress of five children with cerebral palsy during the sessions. The time it took the children on each road and the times required to complete a task were measured. In addition, the level of difficulty of the games was gradually increased at each session. [Results] Results have shown good progress on the accuracy of the movements and an increase in concentration level during the execution of the games, showing an improvement in the patients' performance by 40-55% faster. [Conclusions] Health games encourage children to comply with therapy. The advantage of the game is that the patient can perform the therapy at home, which could help achieve further progress in patients.

  18. Molecular chaperones enhance the degradation of expanded polyglutamine repeat androgen receptor in a cellular model of spinal and bulbar muscular atrophy

    NARCIS (Netherlands)

    Bailey, CK; Andriola, IFM; Kampinga, HH; Merry, DE

    2002-01-01

    Spinal and bulbar muscular atrophy (SBMA) is one of a growing number of neurodegenerative diseases caused by a polyglutamine-encoding CAG trinucleotide repeat expansion, and is caused by an expansion within exon 1 of the androgen receptor (AR) gene. The family of polyglutamine diseases is characteri

  19. 脑瘫儿童的康复护理探讨%Effect of Rehabilitation Nursing on Cerebral Palsy Children

    Institute of Scientific and Technical Information of China (English)

    石娜娜

    2015-01-01

    目的:探讨脑瘫儿童的康复护理方法。方法对在2013年6月~2014年12月份我院收治的100例住院脑瘫儿童进行康复护理和训练。结果通过对脑瘫儿童进行早期的康复护理,不仅可以提高脑瘫儿童的治疗效果,同时也能极大提高脑瘫儿童的生活自理能力、语言能力及社交能力等。结论科学有效地康复护理可以帮助脑瘫儿童的治疗结果取得的进步。%ObjectiveTo discuss the cerebral palsy children's rehabilitation nursing methods. Methods From June 2013 to December 2014 in our hospital 100 cases of hospitalized children with cerebral palsy implemented rehabilitation care and training.Results Through the study of the early rehabilitation care of cerebral palsy children, not only could improve the effect of the treatment of cerebral palsy children, at the same time also could greatly enhance self-care ability,language ability and social ability.Conclusion Scientific rehabilitation nursing can effectively help the treatment of cerebral palsy children and the results made great progress.

  20. An unusual cause of radial nerve palsy

    Institute of Scientific and Technical Information of China (English)

    Hemendra Kumar Agrawal; Vipin Khatkar; Mohit Garg; Balvinder Singh; Ashish Jaiman; Vinod Kumar Sharma

    2014-01-01

    Neurapraxia frequently occurs following traction injury to the nerve intraoperatively,leading to radial nerve palsy which usually recovers in 5-30 weeks.In our case,we had operated a distal one-third of humeral shaft fracture and fixed it with 4.5 mm limited contact dynamic compression plate.The distal neurovascular status of the limb was assessed postoperatively in the recovery room and was found to be intact and all the sensory-motor functions of the radial nerve were normal.On the second postoperative day,following the suction drain removal and dressing,patient developed immediate radial nerve palsy along with wrist drop.We reviewed the literature and found no obvious cause for the nerve palsy and concluded that it was due to traction injury to the radial nerve while removing the suction drain in negative pressure.

  1. An unusual cause of radial nerve palsy

    Directory of Open Access Journals (Sweden)

    Agrawal Hemendra Kumar

    2014-06-01

    Full Text Available Neurapraxia frequently occurs following traction injury to the nerve intraoperatively, leading to radial nerve palsy which usually recovers in 5-30 weeks. In our case, we had operated a distal one-third of humeral shaft fracture and fixed it with 4.5 mm limited contact dynamic compression plate. The distal neurovascular status of the limb was assessed postoperatively in the recovery room and was found to be intact and all the sensory-motor functions of the radial nerve were normal. On the second postoperative day, following the suction drain removal and dressing, patient developed immediate radial nerve palsy along with wrist drop. We reviewed theliterature and found no obvious cause for the nerve palsy and concluded that it was due to traction injury to the radial nerve while removing the suction drain in negative pressure. Key words: Radial nerve; Humeral fractures; Paralysis; Diaphyses

  2. Guillain-Barre Syndrome Presenting With Bilateral Facial Nerve Palsy

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    Soroor INALOO

    2014-01-01

    Full Text Available How to Cite This Article: Inaloo S, Katibeh P. Guillain-Barre Syndrome Presenting With Bilateral Facial Nerve Palsy. Iran J Child Neurol. 2014 Winter;8(1:69-71.ObjectiveThis case study is about an 11-year-old girl with bilateral facial weakness, abnormal taste sensation, and deep tendon reflexes of both knees and ankles were absent. However, the muscle power of the lower and upper extremities across all muscle groups was normal. After 2 days, she developed paresthesia and numbness in the lower extremities. Other neurologic examinations, such as fundoscopic evaluation of the retina were normal with the muscle power of both upper- and lower-extremities intact. A lumbar puncture revealed albumincytological dissociation. EMG and NCV were in favor of Guillain-Barre syndrome, for which IVIG was prescribed and the abnormal sensations in the lower limbs rapidly improved. Bilateral facial diplegia without weakness and paresthesia is a variant of Guillain-Barre syndrome that mostly presents withacute onset, rapid progression with or without limb weakness, paresthesia, and decreased or absent DTR and albumin-cytological dissociation.References:Barbi F, Ariatti A, Funakoshi K, Meacci M, Odaka M, Galassi G. Parvovirus B19 infection antedating Guillain-Barre’ syndrome variant with prominent facial diplegia. J Neurol 2011 Aug; 258(8:1551-2. doi: 10.1007/s00415-011-5949-5. Epub 2011 Feb 15.Yardimci N, Avci AY, Kayhan E, Benli S. Bilateral facial nerve enhancement demonstrated by magnetic resonance imaging in Guillain-Barré syndrome. Neurol Sci 2009 Oct; 30(5:431-3. doi:10.1007/s10072-009-0120-0.Lim TC, Yeo WS, Loke KY, Quek SC. Bilateral facial nerve palsy in Kawasaki disease. Ann Acad Med Singapore 2009; 38(8:737-8.Quintas E, Silva A, Sarmento A. Bilateral facial palsy in a young patient after meningococcal meningitis, associated to herpetic infection. Arq Neuro-Psiquiatr 2009; 67(3a: 712-14.Jain V, Deshmukh A, Gollomp S. Bilateral facial

  3. Epidemiology of cerebral palsy in Southern Denmark

    DEFF Research Database (Denmark)

    Frøslev-Friis, Christina; Dunkhase-Heinl, Ulrike; Andersen, Johnny Dohn Holmgren;

    2015-01-01

    INTRODUCTION: The aim of this study was to describe the prevalence, subtypes, severity and neuroimaging findings of cerebral palsy (CP) in a cohort of children born in Southern Denmark. Risk factors were analysed and aetiology considered. METHODS: A population-based cohort study covering 17...... prevention of CP is possible if the numbers of preterm births and multiple pregnancies can be reduced. FUNDING: The Danish Cerebral Palsy Follow-up Programme is supported by the foundation "Ludvig og Sara Elsass Fond". TRIAL REGISTRATION: 2008-58-0034....

  4. Feeding difficulties in children with cerebral palsy.

    Science.gov (United States)

    Andrew, Morag J; Parr, Jeremy R; Sullivan, Peter B

    2012-12-01

    Feeding difficulties are common in children with cerebral palsy and have an effect on growth, nutritional state, general health, social interaction and behaviour and developmental outcomes. Many factors have an effect on feeding ability. Identification of these factors and amelioration of their impact on feeding difficulties is essential to promote adequate growth and nutrition. Appropriate assessment and management is best achieved by a multiprofessional team skilled in the care of children with cerebral palsy and feeding impairments. Feeding difficulties must be considered within the wider context of family and social circumstance.

  5. Pathophysiology of muscle contractures in cerebral palsy.

    Science.gov (United States)

    Mathewson, Margie A; Lieber, Richard L

    2015-02-01

    Patients with cerebral palsy present with a variety of adaptations to muscle structure and function. These pathophysiologic symptoms include functional deficits such as decreased force production and range of motion, in addition to changes in muscle structure such as decreased muscle belly size, increased sarcomere length, and altered extracellular matrix structure and composition. On a cellular level, patients with cerebral palsy have fewer muscle stem cells, termed satellite cells, and altered gene expression. Understanding the nature of these changes may present opportunities for the development of new muscle treatment therapies.

  6. Clinical characteristics and cerebrospinal fluid parameters in patients with peripheral facial palsy caused by Lyme neuroborreliosis compared with facial palsy of unknown origin (Bell's palsy)

    OpenAIRE

    Hagberg Lars; Bremell Daniel

    2011-01-01

    Abstract Background Bell's palsy and Lyme neuroborreliosis are the two most common diagnoses in patients with peripheral facial palsy in areas endemic for Borrelia burgdorferi. Bell's palsy is treated with corticosteroids, while Lyme neuroborreliosis is treated with antibiotics. The diagnosis of Lyme neuroborreliosis relies on the detection of Borrelia antibodies in blood and/or cerebrospinal fluid, which is time consuming. In this study, we retrospectively analysed clinical and cerebrospinal...

  7. Frontotemporal cognitive function in X-linked spinal and bulbar muscular atrophy (SBMA): a controlled neuropsychological study of 20 patients.

    Science.gov (United States)

    Soukup, Georg Rüdiger; Sperfeld, Anne-Dorte; Uttner, Ingo; Karitzky, Jochen; Ludolph, Albert Christian; Kassubek, Jan; Schreiber, Herbert

    2009-11-01

    A cross-sectional neuropsychological study of cognitive functions in 20 male patients with genetically proven spinal and bulbar muscular atrophy (SBMA) was performed, with a comparison of their cognitive performance with that of 20 age- and education-matched control subjects. Neuropsychological assessment covered executive functioning, memory, and attentional control. The SBMA patients revealed deficits in verbal and non-verbal fluency as well as concept formation. Additionally, they showed significant memory deficits in all of the investigated domains of working memory, short-term and long-term memory. With respect to attentional control, the SBMA patients underperformed in relevant subtests, although performance differences did not reach significance overall. We conclude that fronto-temporal cognitive functions are impaired in SMBA, although at a subclinical level. Thus, functional deficits in SBMA are not confined to motor neurons but also affect extramotor networks.

  8. Progress in molecular diagnosis of Charcot-Marie-Tooth-disease type 1 (CMT 1, HMSN I) and hereditary neuropathy with liability to pressure palsies (HNPP) by fluorescence in situ hybridization (FISH)-detection of a potential genetic mosaicism

    Energy Technology Data Exchange (ETDEWEB)

    Bathke, K.; Liehr. T.; Ekici, A. [Institute for Human Genetics, Erlange (Germany)] [and others

    1994-09-01

    We tested 20 CMT 1 patients characterized according to the criteria of the European CMT consortium by Southern hybridization of MspI restricted genomic DNA with probes pVAW409R1, pVAW412Hec and pEW401HE. In 11 of the 20 CMT 1 cases (55%), we observed a duplication in 17q11.2; one patient had a dinucleotide insertion in exon 6 of the PO-gene (5%). One HNPP case had a typical 17p11.2 deletion. Analysis of CA-repeats was performed with primers RM11GT and Mfd41; SSCP-analysis of the PO, PMP22 and Cx32-genes is in progress. FISH was carried out with probe pVAW409R1. 125 interphase nuclei were analyzed for each proband by counting the signals per nucleus. Normal cells show a characteristic distribution of signals: 1 signal in 5.9% of nuclei, 2 in 86.3% and 3 in 7.8%. A duplication is indicated by a shift to 3 signals in more than approximately 60% and 2 in less than 25% of the nuclei. In contrast, the 17p11.2 deletion of the HNPP patient shifts to 82.4% of nuclei with a single hybridization signal versus 14.4% with 2 signals. We detected one case with significantly abnormal distribution of interphase nuclei hybridization signals compared to cultures of normal cells and to those with 17p11.2 duplication or deletion: 3.2% nuclei revealed 1 signal, 48.0% two signals and 48.8% 3 signals, indicating a pathogenic but moderate dosis increase compared to the throughout duplicated cases. FISH with probe pVAW409R1 is a versatile tool to detect the HNPP deletion both in interphase nuclei and in metaphase chromosomes. In CMT 1 disease interphase nuclei are required for FISH analysis due to the small duplication of 1.5 Mbp. In contrast to Southern techniques, FISH is able to detect genetic mosaicism.

  9. A case of meningeal carcinomatosis presenting with the primary symptoms of facial palsy and sensorineural deafness.

    Science.gov (United States)

    Baba, Shunkichi; Matsuda, Han; Gotoh, Minoru; Shimada, Ken-Ichi; Yokoyama, Yukiko; Sakanushi, Atsuko

    2006-08-01

    We report the case of a 59-year-old man with meningeal carcinomatosis (MC) who presented with peripheral facial palsy and progressive sensorineural deafness. The patient had been operated on for gastric cancer 1 year previously, and no metastases had been detected in the retroperitoneum or thorax at follow-up examination 1 year later. However, he developed headache, deafness, and peripheral facial palsy and was referred to us for further evaluation, as magnetic resonance of the head had shown no abnormalities. Ramsay Hunt syndrome was suspected, but no increase in the cerebrospinal fluid cell count was detected. On the other hand, the balance test suggested a central disorder. In addition, the plasma level of carcinoembryonic antigen suddenly increased, suggesting MC. The cerebrospinal fluid was examined several times; in the end malignant cells and an increase in the cell count were detected, and the diagnosis of MC was established.

  10. The therapy with the large dosage of methylprednisolone for the Bell palsy%大剂量甲基强的松龙冲击治疗面神经炎

    Institute of Scientific and Technical Information of China (English)

    魏新敏; 陆正齐; 蓝瑞琼

    2002-01-01

    @@ Background: The main pathological impairments include edema of facial nerve and different level degeneration of myelin sheath or axis cylinder in Bell's palsy. The prognosis of the disease results from severe degree of the disease and whether treatments are timely or not. The therapy with large dosages of Methylprednisolone (MPS) in vein for Bell's palsy, can relieve local edema,improve nerve conduction,avoid progressive impairments of myeline sheath and axis cylinder and promote repairs of myeline sheath.

  11. Epidemiology of cerebral palsy in Southern Denmark

    DEFF Research Database (Denmark)

    Frøslev-Friis, Christina; Dunkhase-Heinl, Ulrike; Andersen, Johnny Dohn Holmgren;

    2015-01-01

    INTRODUCTION: The aim of this study was to describe the prevalence, subtypes, severity and neuroimaging findings of cerebral palsy (CP) in a cohort of children born in Southern Denmark. Risk factors were analysed and aetiology considered. METHODS: A population-based cohort study covering 17,580 l...

  12. Thyroxine Level of Children with Cerebral Palsy

    Institute of Scientific and Technical Information of China (English)

    Zhang Jie

    2000-01-01

    Objective:To investigate the thyroxine level of Children with cerebral palsy so as to understand thd changes of their nevous endocrine. Methods:Radioimmunoassay was applied to 57 Children with cerebral palsy and 108 normal children.The serum level of tridothyronine(T3), thyroxine(T4)free tridothyronine(FT3),free thyroxin(FT4),and thyroid stimulating hormone(TSH) were measured for those children in the moming and and in condition without any food Rsults: (1)Chiidren with cerebral palsy all showed low T3 values.The difference of T3 value between CP children and norrmal children was significant (P<0.001). (2)Results from groups with difference ages:the CP toddler′s age group also showed low T4 and FT4 values The difference of T4 and FT4 values between the toddler′s age CP childrengroup and the toddler′s age normal children group tegted was significant (CP<0.01 for T4, P <0. 05 for FT4): Conclusion:The tlyroxine level of children with cerebral palsy showed lower values compared to normal children, especisly, the low T3 values were significant.

  13. Cerebral Palsy: Still A Social Problem

    Directory of Open Access Journals (Sweden)

    Angom Bisharda

    1997-08-01

    Full Text Available Research Problem: What arc the social aspects of cerebral palsy?Objective: To determine the extent and severity of neuromuscular involvement in cases of cerebral palsy and to find out the associated defects among these children.Study Design: Cross sectional study.Setting: Tertiary care hospital, outdoor patients.Participants: Children in the age group of 0 - 12 years.Sample Size: 120 children suffering from cerebral palsy.Study Variables: Social factors, neuromuscular involvement.Statistical Analysis: By proportionsResult: Out of 120 cases, maximum number of cases (66.6% were in the age group of 1- 4 years. 83 cases ( 69.16% were males. Among the various types, spastic type was the commonest (87.5%. Of these spastic cases, 52 (49.52% had quadriplegia. No case of tremor and rigidity was seen. Delayed milestones was the commonest associated disorder, seen in 107 (89.16% cases, followed by speech defect in 58(48.3% cases, visual defect in 34(28.3% cases and convulsions in 24 (20.0% cases. Hearing defect was seen in 5 cases (4.16% only.Conclusion: More concerted efforts arc required to identify children with cerebral palsy and rehabilitate them for the betterment of society.

  14. Parental infertility and cerebral palsy in children

    DEFF Research Database (Denmark)

    Zhu, Jin Liang; Hvidtjørn, Dorte; Basso, Olga

    2010-01-01

    Children born after in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) have been reported to have a higher risk of cerebral palsy (CP), perhaps due to the higher frequency of preterm birth, multiple births or vanishing embryo in the pregnancies. However, it has been suggested...

  15. Early identification and intervention in cerebral palsy

    DEFF Research Database (Denmark)

    Herskind, Anna; Greisen, Gorm; Nielsen, Jens Bo

    2015-01-01

    Infants with possible cerebral palsy (CP) are commonly assumed to benefit from early diagnosis and early intervention, but substantial evidence for this is lacking. There is no consensus in the literature on a definition of 'early', but this review focuses on interventions initiated within the fi...

  16. Gait Stability in Children with Cerebral Palsy

    Science.gov (United States)

    Bruijn, Sjoerd M.; Millard, Matthew; van Gestel, Leen; Meyns, Pieter; Jonkers, Ilse; Desloovere, Kaat

    2013-01-01

    Children with unilateral Cerebral Palsy (CP) have several gait impairments, amongst which impaired gait stability may be one. We tested whether a newly developed stability measure (the foot placement estimator, FPE) which does not require long data series, can be used to asses gait stability in typically developing (TD) children as well as…

  17. Peripheral nerve involvement in Bell's palsy

    Directory of Open Access Journals (Sweden)

    J. A. Bueri

    1984-12-01

    Full Text Available A group of patients with Bell's palsy were studied in order to disclose the presence of subclinical peripheral nerve involvement. 20 patients, 8 male and 12 female, with recent Bell's palsy as their unique disease were examined, in all cases other causes of polyneuropathy were ruled out. Patients were investigated with CSF examination, facial nerve latencies in the affected and in the sound sides, and maximal motor nerve conduction velocities, as well as motor terminal latencies from the right median and peroneal nerves. CSF laboratory examination was normal in all cases. Facial nerve latencies were abnormal in all patients in the affected side, and they differed significantly from those of control group in the clinically sound side. Half of the patients showed abnormal values in the maximal motor nerve conduction velocities and motor terminal latencies of the right median and peroneal nerves. These results agree with previous reports which have pointed out that other cranial nerves may be affected in Bell's palsy. However, we have found a higher frequency of peripheral nerve involvement in this entity. These findings, support the hypothesis that in some patients Bell's palsy is the component of a more widespread disease, affecting other cranial and peripheral nerves.

  18. Pretend Play of Children with Cerebral Palsy

    Science.gov (United States)

    Pfeifer, Luzia Iara; Pacciulio, Amanda Mota; dos Santos, Camila Abrao; dos Santos, Jair Licio; Stagnitti, Karen Ellen

    2011-01-01

    Background and Purpose: Evaluate self-initiated pretend play of children with cerebral palsy. Method: Twenty preschool children participated in the study. Pretend play ability was measured by using the child-initiated pretend play assessment culturally adapted to Brazil. Results: There were significant negative correlations between the children's…

  19. Cerebral palsy: the first three years.

    Science.gov (United States)

    Hoffer, M M; Koffman, M

    1980-09-01

    The orthopedic surgeion should be an integral part of a medical team for evaluation and treatment of young children with cerebral palsy. Surgical procedures in this first three years of life are usually limited to the adductor releases about the hip. Stretching and plastic splints about the ankle and knee followed by ankle-foot orthoses are frequently effective in correction of deformity.

  20. Facial nerve palsy and hemifacial spasm.

    Science.gov (United States)

    Valls-Solé, Josep

    2013-01-01

    Facial nerve lesions are usually benign conditions even though patients may present with emotional distress. Facial palsy usually resolves in 3-6 weeks, but if axonal degeneration takes place, it is likely that the patient will end up with a postparalytic facial syndrome featuring synkinesis, myokymic discharges, and hemifacial mass contractions after abnormal reinnervation. Essential hemifacial spasm is one form of facial hyperactivity that must be distinguished from synkinesis after facial palsy and also from other forms of facial dyskinesias. In this condition, there can be ectopic discharges, ephaptic transmission, and lateral spread of excitation among nerve fibers, giving rise to involuntary muscle twitching and spasms. Electrodiagnostic assessment is of relevance for the diagnosis and prognosis of peripheral facial palsy and hemifacial spasm. In this chapter the most relevant clinical and electrodiagnostic aspects of the two disorders are reviewed, with emphasis on the various stages of facial palsy after axonal degeneration, the pathophysiological mechanisms underlying the various features of hemifacial spasm, and the cues for differential diagnosis between the two entities.

  1. The diagnostic yield of neuroimaging in sixth nerve palsy - Sankara Nethralaya Abducens Palsy Study (SNAPS: Report 1

    Directory of Open Access Journals (Sweden)

    Akshay Gopinathan Nair

    2014-01-01

    Full Text Available Aims: The aim was to assess the etiology of sixth nerve palsy and on the basis of our data, to formulate a diagnostic algorithm for the management in sixth nerve palsy. Design: Retrospective chart review. Results: Of the 104 neurologically isolated cases, 9 cases were attributable to trauma, and 95 (86.36% cases were classified as nontraumatic, neurologically isolated cases. Of the 95 nontraumatic, isolated cases of sixth nerve palsy, 52 cases were associated with vasculopathic risk factors, namely diabetes and hypertension and were classified as vasculopathic sixth nerve palsy (54.7%, and those with a history of sixth nerve palsy from birth (6 cases were classified as congenital sixth nerve palsy (6.3%. Of the rest, neuroimaging alone yielded a cause in 18 of the 37 cases (48.64%. Of the other 19 cases where neuroimaging did not yield a cause, 6 cases were attributed to preceding history of infection (3 upper respiratory tract infection and 3 viral illnesses, 2 cases of sixth nerve palsy were found to be a false localizing sign in idiopathic intracranial hypertension and in 11 cases, the cause was undetermined. In these idiopathic cases of isolated sixth nerve palsy, neuroimaging yielded no positive findings. Conclusions: In the absence of risk factors, a suggestive history, or positive laboratory and clinical findings, neuroimaging can serve as a useful diagnostic tool in identifying the exact cause of sixth nerve palsy. Furthermore, we recommend an algorithm to assess the need for neuroimaging in sixth nerve palsy.

  2. Benign recurrent abducens (6th) nerve palsy in two children.

    Science.gov (United States)

    Knapp, Christopher M; Gottlob, Irene

    2004-03-01

    Benign recurrent abducens (6th) nerve palsy is rare. We found 23 cases in children reported in the literature; however, many of these cases followed immunization or were associated with viral illness. Here we report two cases of recurrent abducens nerve palsy with no obvious etiology. The diagnosis should be considered in any child who experiences abducens nerve palsy in the absence of any underlying pathology or precipitating factors.

  3. Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome: a rare cause of acute bulbar dysfunction in children = Variante faringo-cérvico-braquial da síndrome de Guillain-Barré: uma causa rara de disfunção bulbar aguda em crianças

    Directory of Open Access Journals (Sweden)

    Coelho, Joana

    2014-01-01

    Conclusões: Apesar da variante faringo-cervico-braquial ser pouco frequente em idade pediátrica, é um diagnóstico que deve ser considerado perante uma criança com disfunção bulbar aguda, pois a identificação precoce permite instituir rapidamente medidas terapêuticas que podem evitar a morte

  4. Is There a Role for Exercise in the Management of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis?

    Science.gov (United States)

    Plowman, Emily K.

    2015-01-01

    Purpose: The role of exercise in the management of people with amyotrophic lateral sclerosis (PALS) is controversial and currently unclear. The purpose of this review article is to review literature examining the impact of limb, respiratory, and oral motor exercise on function, disease progression, and survival in PALS and the transgenic ALS…

  5. Clinical characteristics and cerebrospinal fluid parameters in patients with peripheral facial palsy caused by Lyme neuroborreliosis compared with facial palsy of unknown origin (Bell's palsy

    Directory of Open Access Journals (Sweden)

    Hagberg Lars

    2011-08-01

    Full Text Available Abstract Background Bell's palsy and Lyme neuroborreliosis are the two most common diagnoses in patients with peripheral facial palsy in areas endemic for Borrelia burgdorferi. Bell's palsy is treated with corticosteroids, while Lyme neuroborreliosis is treated with antibiotics. The diagnosis of Lyme neuroborreliosis relies on the detection of Borrelia antibodies in blood and/or cerebrospinal fluid, which is time consuming. In this study, we retrospectively analysed clinical and cerebrospinal fluid parameters in well-characterised patient material with peripheral facial palsy caused by Lyme neuroborreliosis or Bell's palsy, in order to obtain a working diagnosis and basis for treatment decisions in the acute stage. Methods Hospital records from the Department of Infectious Diseases, Sahlgrenska University Hospital, for patients with peripheral facial palsy that had undergone lumbar puncture, were reviewed. Patients were classified as Bell's palsy, definite Lyme neuroborreliosis, or possible Lyme neuroborreliosis, on the basis of the presence of Borrelia antibodies in serum and cerebrospinal fluid and preceding erythema migrans. Results One hundred and two patients were analysed; 51 were classified as Bell's palsy, 34 as definite Lyme neuroborreliosis and 17 as possible Lyme neuroborreliosis. Patients with definite Lyme neuroborreliosis fell ill during the second half of the year, with a peak in August, whereas patients with Bell's palsy fell ill in a more evenly distributed manner over the year. Patients with definite Lyme neuroborreliosis had significantly more neurological symptoms outside the paretic area of the face and significantly higher levels of mononuclear cells and albumin in their cerebrospinal fluid. A reported history of tick bite was uncommon in both groups. Conclusions We found that the time of the year, associated neurological symptoms and mononuclear pleocytosis were strong predictive factors for Lyme neuroborreliosis as a

  6. Genetics Home Reference: horizontal gaze palsy with progressive scoliosis

    Science.gov (United States)

    ... a protein that is important for the normal development of certain nerve pathways in the brain . These include motor nerve pathways, which transmit information about voluntary muscle movement, and sensory nerve pathways, which transmit information about sensory input ( ...

  7. Motor learning curve and long-term effectiveness of modified constraint-induced movement therapy in children with unilateral cerebral palsy: a randomized controlled trial

    NARCIS (Netherlands)

    Geerdink, Y.A.; Aarts, P.; Geurts, A.C.H.

    2013-01-01

    The goal of this study was to determine the progression of manual dexterity during 6 weeks (54h) (modified) constraint-induced movement therapy ((m)CIMT) followed by 2 weeks (18h) bimanual training (BiT) in children with unilateral spastic cerebral palsy (CP), to establish whether and when a maximal

  8. Motor Learning Curve and Long-Term Effectiveness of Modified Constraint-Induced Movement Therapy in Children with Unilateral Cerebral Palsy: A Randomized Controlled Trial

    Science.gov (United States)

    Geerdink, Yvonne; Aarts, Pauline; Geurts, Alexander C.

    2013-01-01

    The goal of this study was to determine the progression of manual dexterity during 6 weeks (54 h) (modified) constraint-induced movement therapy ((m)CIMT) followed by 2 weeks (18 h) bimanual training (BiT) in children with unilateral spastic cerebral palsy (CP), to establish whether and when a maximal training effect was reached and which factors…

  9. CT findings in patients with cerebral palsy

    Energy Technology Data Exchange (ETDEWEB)

    Konno, K. (Akita Univ. (Japan))

    1982-01-01

    Clinical findings and CT findings in 73 cases of cerebral palsy were studied. The causes of cerebral palsy were presumed to be as follows: abnormal cerebral development (36%), asphyxial delivery (34%), and immature delivery (19%), etc. CT findings were abnormal in 58% of the 73 cases, 83% of the spastic tetraplegia patients and all of the spastic hemiplegia patients showed abnormal CT findings. All the patients with spastic monoplegia presented normal CT findings. In 75% of the spastic hemiplegia cases, the CT abnormalities were due to cerebral parenchymal abnormality such as porencephaly and regional low absorption. In cases of spastic tetraplegia, cerebral parenchymal abnormality was found only in 10%. Cortical atrophy was found only in 15 of the 73 cases, whereas central atrophy was found in 36 cases.

  10. Herpes zoster ophthalmicus associated with abducens palsy

    Directory of Open Access Journals (Sweden)

    Nibrass Chaker

    2014-01-01

    Full Text Available The extraocular muscle palsies associated with herpes zoster ophthalmicus (HZO are transient, self-limiting conditions, usually seen in elderly patients. There are different treatment recommendations for paralytic complications, but prognosis has generally reported to be favorable. A 75-year-old male patient presented with diplopia. Clinical history revealed left facial vesicular eruptions and pain treated by oral aciclovir 1 week following symptom onset. On examination, we observed cicatricial lesions with crusts involving left hemiface, a limitation in abduction of the left eye, and a superficial punctuate keratitis (SPK with decreased visual acuity (4/10. Examination of the right eye was unremarkable. Hess screen test confirmed left six nerve palsy.

  11. Hip and Spine in Cerebral Palsy

    OpenAIRE

    Persson-Bunke, Måns

    2015-01-01

    Abstract Background: Children with cerebral palsy (CP) have an increased risk of scoliosis, contractures including windswept hip deformity (WS), and hip dislocation. In 1994, a follow-up program and registry for children and adolescents with CP (CPUP) was initiated in Sweden to allow the early detection and prevention of hip dislocations and other musculoskeletal deformities. Purpose: To analyze the prevalence of scoliosis and WS in children with CP and to study the effect of CPUP. To e...

  12. Dietary Practices in Saudi Cerebral Palsy Children

    OpenAIRE

    Al-Hammad, Nouf S.

    2015-01-01

    Objectives: To determine the dietary practices of Saudi cerebral palsy (CP) children. Methods: A self-administered questionnaire was used to collect the following information from parents of CP children: demographics, main source of dietary information, frequency of main meals, foods/drinks used for main meals and in-between-meals. Results: Parents of 157 CP children participated. Parents were divided into three, while children were divided into two age groups. The main sources of dietary inf...

  13. NEONATAL NERVE PALSIES: A CONTEMPORARY OBSTETRIC PERSPECTIVE

    Directory of Open Access Journals (Sweden)

    Daren J. Roberts

    2014-05-01

    Full Text Available Background:Birth trauma and its often incorrect inference of iatrogenic causation has led to unfortunate implications for the affected child, the parents, the obstetrician and the midwife due to unwarranted medico-legal attention in our current litigious society.A more discerning evaluation of neonatal nerve palsies following labour and delivery has led to a better understanding of their aetiology with potentially more appropriate outcomes for all parties involved.

  14. Neonatal brachial plexus palsy: a permanent challenge

    Directory of Open Access Journals (Sweden)

    Carlos Otto Heise

    2015-09-01

    Full Text Available Neonatal brachial plexus palsy (NBPP has an incidence of 1.5 cases per 1000 live births and it has not declined despite recent advances in obstetrics. Most patients will recover spontaneously, but some will remain severely handicapped. Rehabilitation is important in most cases and brachial plexus surgery can improve the functional outcome of selected patients. This review highlights the current management of infants with NBPP, including conservative and operative approaches.

  15. C-5 palsy after cerebrospinal fluid diversion in posttraumatic syringomyelia: case report.

    Science.gov (United States)

    Ghobrial, George M; Beygi, Sara; Viereck, Matthew J; Heller, Joshua E; Sharan, Ashwini; Jallo, Jack; Harrop, James S; Prasad, Srinivas

    2015-04-01

    Syringomyelia is a potentially debilitating disease that involves abnormal CSF flow mechanics; its incidence after traumatic spinal cord injury (SCI) is approximately 15%. Treatment consists of restoration of CSF flow, typically via arachnoidolysis and syrinx decompression. The authors present a case of pronounced syringomyelia in a patient with concomitant severe cervical myelomalacia to demonstrate unilateral C-5 palsy as a potential complication of aggressive syrinx decompression at a remote level. A 56-year-old man with a remote history of SCI at T-11 (ASIA [American Spinal Injury Association] Grade A) presented with complaints of ascending motor and sensory weakness into the bilateral upper extremities that had progressed over 1 year. MRI demonstrated severe distortion of the spinal cord at the prior injury level of T10-11, where an old anterior column injury and prior hook-rod construct was visualized. Of note, the patient had a holocord syrinx with demonstrable myelomalacia. To restore CSF flow and decompress the spinal cord, T-2 and T-3 laminectomies, followed by arachnoidolysis and syringopleural shunt placement, were performed. Postoperatively on Day 1, with the exception of a unilateral deltoid palsy, the patient had immediate improvement in upper-extremity strength and myelopathy. He was discharged from the hospital on postoperative Day 5; however, at his 2-week follow-up visit, a persistent unilateral deltoid palsy was noted. MRI demonstrated a significant reduction in the holocord syrinx, no neural foraminal stenosis, and a significant positional shift of the ventral spinal cord. Further motor recovery was noted at the 8-month follow-up. Syringomyelia is a debilitating disease arising most often as a result of traumatic SCI. In the setting of myelomalacia with a pronounced syrinx, C-5 palsy is a potential complication of syrinx decompression.

  16. Energy requirements of children with cerebral palsy.

    Science.gov (United States)

    Hogan, S Eileen

    2004-01-01

    Energy requirements of children and adolescents with cerebral palsy appear to be disease-specific and different from the current recommendations for healthy children, varying depending upon functional capacity, degree of mobility, severity of disease, and level of altered metabolism. Feeding problems are prevalent in many of these children, and can result in inadequate energy intake. Wasting of voluntary muscles, a common symptom of cerebral palsy, contributes to reduced resting energy needs; nevertheless, the location of the central nervous system lesion may also influence energy requirements. To guarantee individualized, accurate, and optimal energy recommendations for this population, resting energy expenditure should preferentially be measured by indirect calorimetry. Equations and formulae to predict healthy people's resting energy expenditure are available, but tend to overestimate these children's energy needs. Future studies should address the role of the central nervous system in regulating energy metabolism in this population. When adequately nourished, children and adolescents with cerebral palsy appear more tranquil and require decreased feeding time, which gives caregivers time to develop the child's functional independence and character. Understanding energy requirements of this population will provide caregivers and health professionals with guidelines for providing optimal nutritional status.

  17. Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes.

    Science.gov (United States)

    Milioto, Carmelo; Malena, Adriana; Maino, Eleonora; Polanco, Maria J; Marchioretti, Caterina; Borgia, Doriana; Pereira, Marcelo Gomes; Blaauw, Bert; Lieberman, Andrew P; Venturini, Roberta; Plebani, Mario; Sambataro, Fabio; Vergani, Lodovica; Pegoraro, Elena; Sorarù, Gianni; Pennuto, Maria

    2017-01-24

    Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease characterized by the loss of lower motor neurons. SBMA is caused by expansions of a polyglutamine tract in the gene coding for androgen receptor (AR). Expression of polyglutamine-expanded AR causes damage to motor neurons and skeletal muscle cells. Here we investigated the effect of β-agonist stimulation in SBMA myotube cells derived from mice and patients, and in knock-in mice. We show that treatment of myotubes expressing polyglutamine-expanded AR with the β-agonist clenbuterol increases their size. Clenbuterol activated the phosphatidylinositol-3-kinase (PI3K)/Akt/mechanistic target of rapamycin (mTOR) pathway and decreased the accumulation of polyglutamine-expanded AR. Treatment of SBMA knock-in mice with clenbuterol, which was started at disease onset, ameliorated motor function and extended survival. Clenbuterol improved muscle pathology, attenuated the glycolytic-to-oxidative metabolic alterations occurring in SBMA muscles and induced hypertrophy of both glycolytic and oxidative fibers. These results indicate that β-agonist stimulation is a novel therapeutic strategy for SBMA.

  18. Analysis of the conformation of the androgen receptor in spinal bulbar muscular atrophy by atomic force microscopy.

    Science.gov (United States)

    Jochum, Tobias; Cato, Andrew C B

    2014-01-01

    Spinal bulbar muscular atrophy (SBMA) (also known as Kennedy's disease) is a motor degenerative disease caused by an amplification of the polyglutamine stretch at the N-terminus of the human androgen receptor (AR). Amplifications larger than 40 glutamine residues are thought to lead to the disease. A characteristic feature of this disease is a ligand-dependent misfolding and aggregation of the mutant receptor that lead to the death of motor neurons. Initially, large cytoplasmic and nuclear aggregates reaching sizes of 6 μm were thought to be the pathogenic agents. Later studies have suggested that oligomeric species with sizes of less than 1 μm that occur prior to the formation of the larger aggregates are the toxic agents. However, there have been disagreements regarding the shape of these oligomers, as most studies have been carried out with peptide fragments of the androgen receptor containing different lengths of polyglutamine stretch. We have isolated the wild-type AR with a polyglutamine stretch of 22 (ARQ22) and a mutant receptor with a stretch of 65 (ARQ65) using a baculovirus system and have analyzed the oligomeric structures formed by these receptors with atomic force microscopy. This method has allowed us to determine the conformations of the full-length wild-type and mutant AR and revealed the conformation of the mutant AR that causes SBMA.

  19. Muscle expression of mutant androgen receptor accounts for systemic and motor neuron disease phenotypes in spinal and bulbar muscular atrophy.

    Science.gov (United States)

    Cortes, Constanza J; Ling, Shuo-Chien; Guo, Ling T; Hung, Gene; Tsunemi, Taiji; Ly, Linda; Tokunaga, Seiya; Lopez, Edith; Sopher, Bryce L; Bennett, C Frank; Shelton, G Diane; Cleveland, Don W; La Spada, Albert R

    2014-04-16

    X-linked spinal and bulbar muscular atrophy (SBMA) is characterized by adult-onset muscle weakness and lower motor neuron degeneration. SBMA is caused by CAG-polyglutamine (polyQ) repeat expansions in the androgen receptor (AR) gene. Pathological findings include motor neuron loss, with polyQ-AR accumulation in intranuclear inclusions. SBMA patients exhibit myopathic features, suggesting a role for muscle in disease pathogenesis. To determine the contribution of muscle, we developed a BAC mouse model featuring a floxed first exon to permit cell-type-specific excision of human AR121Q. BAC fxAR121 mice develop systemic and neuromuscular phenotypes, including shortened survival. After validating termination of AR121 expression and full rescue with ubiquitous Cre, we crossed BAC fxAR121 mice with Human Skeletal Actin-Cre mice. Muscle-specific excision prevented weight loss, motor phenotypes, muscle pathology, and motor neuronopathy and dramatically extended survival. Our results reveal a crucial role for muscle expression of polyQ-AR in SBMA and suggest muscle-directed therapies as effective treatments.

  20. Beta-agonist stimulation ameliorates the phenotype of spinal and bulbar muscular atrophy mice and patient-derived myotubes

    Science.gov (United States)

    Milioto, Carmelo; Malena, Adriana; Maino, Eleonora; Polanco, Maria J.; Marchioretti, Caterina; Borgia, Doriana; Pereira, Marcelo Gomes; Blaauw, Bert; Lieberman, Andrew P.; Venturini, Roberta; Plebani, Mario; Sambataro, Fabio; Vergani, Lodovica; Pegoraro, Elena; Sorarù, Gianni; Pennuto, Maria

    2017-01-01

    Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disease characterized by the loss of lower motor neurons. SBMA is caused by expansions of a polyglutamine tract in the gene coding for androgen receptor (AR). Expression of polyglutamine-expanded AR causes damage to motor neurons and skeletal muscle cells. Here we investigated the effect of β-agonist stimulation in SBMA myotube cells derived from mice and patients, and in knock-in mice. We show that treatment of myotubes expressing polyglutamine-expanded AR with the β-agonist clenbuterol increases their size. Clenbuterol activated the phosphatidylinositol-3-kinase (PI3K)/Akt/mechanistic target of rapamycin (mTOR) pathway and decreased the accumulation of polyglutamine-expanded AR. Treatment of SBMA knock-in mice with clenbuterol, which was started at disease onset, ameliorated motor function and extended survival. Clenbuterol improved muscle pathology, attenuated the glycolytic-to-oxidative metabolic alterations occurring in SBMA muscles and induced hypertrophy of both glycolytic and oxidative fibers. These results indicate that β-agonist stimulation is a novel therapeutic strategy for SBMA. PMID:28117338

  1. Sleep disorders in spinal and bulbar muscular atrophy (Kennedy's disease): a controlled polysomnographic and self-reported questionnaires study.

    Science.gov (United States)

    Romigi, Andrea; Liguori, Claudio; Placidi, Fabio; Albanese, Maria; Izzi, Francesca; Uasone, Elisabetta; Terracciano, Chiara; Marciani, Maria Grazia; Mercuri, Nicola Biagio; Ludovisi, Raffaella; Massa, Roberto

    2014-05-01

    No data are available regarding the occurrence of sleep disorders in spinal and bulbar muscular atrophy (SBMA). We investigated the sleep-wake cycle in SBMA patients compared with healthy subjects. Nine SBMA outpatients and nine age-matched and sex-matched healthy controls were evaluated. Subjective quality of sleep was assessed by means of the Pittsburgh Sleep Quality Index (PSQI). The Epworth Sleepiness Scale was used in order to evaluate excessive daytime sleepiness. All participants underwent a 48-h polysomnography followed by the multiple sleep latency test. Time in bed, total sleep time and sleep efficiency were significantly lower in SBMA than controls. Furthermore, the apnea-hypopnea index (AHI) was significantly higher in SBMA than controls. Obstructive sleep apnea (OSA: AHI >5/h) was evident in 6/9 patients (66.6 %). REM sleep without atonia was evident in three patients also affected by OSA and higher AHI in REM; 2/9 (22.2 %) SBMA patients showed periodic limb movements in sleep. The global PSQI score was higher in SBMA versus controls. Sleep quality in SBMA is poorer than in controls. OSA is the most common sleep disorder in SBMA. The sleep impairment could be induced both by OSA or/and the neurodegenerative processes involving crucial areas regulating the sleep-wake cycle.

  2. Morphological changes of skeletal muscle in spinal and bulbar muscular atrophy (SBMA), Kennedy's disease: a case report.

    Science.gov (United States)

    Acewicz, Albert; Wierzba-Bobrowicz, Teresa; Lewandowska, Eliza; Sienkiewicz-Jarosz, Halina; Sulek, Anna; Antczak, Jakub; Rakowicz, Maria; Ryglewicz, Danuta

    2015-01-01

    Spinal and bulbar muscular atrophy (SBMA, Kennedy's disease) is an X-linked recessive disease affecting lower motor neurons. In the present case report, we describe morphological changes in a muscle biopsy obtained from a 62-year-old patient with gynecomastia and with the following neurological symptoms: dysphagia, dysarthria, wasting and fasciculation of the tongue, proximal weakness, fasciculations in the limb muscles, and an absence of all tendon reflexes. Neurogenic alternations were predominantly observed using light and electron microscopy. The angulated atrophic muscle fibers formed bundles. The numerous nuclei were pyknotic or pale, some of them were also ubiquitin positive; they were grouped inside so-called "nuclear sacks". At the ultrastructural level, atrophic muscle fibers revealed disruption and loss of sarcomeres, duplication of Z-line, and rod-like structures. The nuclei, often with irregular shapes, revealed varying degrees of chromatin condensation, from dispersed to highly condensed, like pyknotic nuclei. Occasionally electron-dense inclusions in the nuclei were found. Some myogenic features like hypertrophic muscle fibers and proliferation of connective tissue were also visible. The neurogenic and myogenic pathological changes suggested SBMA, which was confirmed with genetic analysis (trinucleotide CAG (glutamie)-repeat expansion in the androgen-receptor gene).

  3. Assessing Function and Endurance in Adults with Spinal and Bulbar Muscular Atrophy: Validity of the Adult Myopathy Assessment Tool

    Directory of Open Access Journals (Sweden)

    Michael O. Harris-Love

    2014-01-01

    Full Text Available Purpose. The adult myopathy assessment tool (AMAT is a performance-based battery comprised of functional and endurance subscales that can be completed in approximately 30 minutes without the use of specialized equipment. The purpose of this study was to determine the construct validity and internal consistency of the AMAT with a sample of adults with spinal and bulbar muscular atrophy (SBMA. Methods. AMAT validity was assessed in 56-male participants with genetically confirmed SBMA (mean age, 53 ± 10 years. The participants completed the AMAT and assessments for disease status, strength, and functional status. Results. Lower AMAT scores were associated with longer disease duration (r=-0.29; P<0.03 and lower serum androgen levels (r=0.49–0.59; P<0.001. The AMAT was significantly correlated with strength and functional status (r=0.82–0.88; P<0.001. The domains of the AMAT exhibited good internal consistency (Cronbach’s α = 0.77–0.89; P<0.001. Conclusions. The AMAT is a standardized, performance-based tool that may be used to assess functional limitations and muscle endurance. The AMAT has good internal consistency, and the construct validity of the AMAT is supported by its significant associations with hormonal, strength, and functional characteristics of adults with SBMA. This trial is registered with Clinicaltrials.gov identifier NCT00303446.

  4. Clinical Observation of Combined Acupuncture and Medications in Treating 90 Cases of Facial Palsy

    Institute of Scientific and Technical Information of China (English)

    WU Chun-huan; XIAO Yuan-chun

    2008-01-01

    @@ Peripheral facial palsy, namely Bell palsy, is one ofthe common diseases in the department ofacupuncture. Facial palsy, popularly called wry mouthand eye, is primarily manifested by the motormalfunction of the muscles of the expression on theaffected side. The author adopted combinedacupuncture and medications to treat 90 cases offacial palsy from June 2005 to June 2007, andattained good effects. It is now reported as follows.

  5. Manual muscle test at C5 palsy onset predicts the likelihood of and time to C5 palsy resolution.

    Science.gov (United States)

    Macki, Mohamed; Alam, Ridwan; Kerezoudis, Panagiotis; Gokaslan, Ziya; Bydon, Ali; Bydon, Mohamad

    2016-02-01

    The primary objective of this study was to identify time to and prognostic factors of C5 palsy resolution. All patients over a 7 year period who experienced C5 palsy following a posterior decompression and instrumented fusion surgery were retrospectively reviewed. C5 palsy resolution was defined as a recovery of deltoid muscle function equal to or greater than the preoperative condition as defined by the manual muscle test (MMT). Of the 511 patients who met the selection criteria, 8.6% (n=44) experienced C5 palsy. MMT information was available for 43 patients; 81.4% (n=35) had full resolution from their condition. Of the 35 patients who resolved, the median MMT score at onset was 3-. Following a discrete-time proportional hazards model, the hazards of C5 palsy resolution increased by 19% for every one-grade increase in MMT score at symptom onset (hazard ratio [HR]=1.19, p=0.005). Moreover, males displayed a 71% lower hazard of resolution than females (HR=0.29, p=0.003). Following an adjusted Kaplan-Meier analysis, the median time to C5 palsy resolution was between 6 months and 1 year. In a multiple linear regression, a lower MMT score at the onset of C5 palsy predicted a longer time to C5 palsy resolution (coefficient=-0.19, p=0.003). Time to C5 palsy onset was not statistically associated with hazards of palsy resolution (p=0.381) or time to resolution (p=0.121). A higher MMT score at the onset of C5 palsy statistically significantly predicted a higher chance of resolution and a shorter recovery time. Female sex was also associated with a higher hazard of resolution.

  6. Clinical Profile of Extraocular Muscle Palsy: A Retrospective Study

    Directory of Open Access Journals (Sweden)

    Suman Adhikari, BOptom

    2013-12-01

    Full Text Available Background: The sixth cranial nerve has been found to be the most commonly affected in previous studies of cranial nerve palsies. This study was carried out to determine the most common nerve involved in extraocular muscle (EOM palsies and the most common cause of EOM palsy in Nepal.Methods: The diagnosed cases of third, fourth, or sixth nerve palsy for 10 years (2000-2010 at the B.P. Koirala Lions Center for Ophthalmic Studies outpatient department were included in the study. A retrospective review of patients’ records was performed, and the causes of EOM palsy were grouped as: vascular, trauma, tumor,aneurysm, undetermined, and others. Recovery of the palsy was evaluated by reviewing the records of the patients who were followed up one month after the initial visit.Results: A total of 838 patients was included in the study. The average patient age was 37 years. The sixth nerve was most commonly affected (n=458, 54.65%, and the most common etiology was undetermined (n=408, 48.68%. Among the cases where the cause of palsy was known, the largest number of patients had trauma (n=188, 16.46%.Conclusion: It was concluded that in Nepal, the most commonly affected cranial nerve is the sixth nerve, in accordance with the other studies done in the past in different parts of the world. Most of the cases of cranial nerve palsy were found to have no specific cause and were not associated with diagnosed systemic disease.

  7. Probability of walking in children with cerebral palsy in Europe

    DEFF Research Database (Denmark)

    Beckung, E.; Hagberg, G.; Uldall, P.;

    2008-01-01

    OBJECTIVES: The purpose of this work was to describe walking ability in children with cerebral palsy from the Surveillance of Cerebral Palsy in Europe common database through 21 years and to examine the association between walking ability and predicting factors. PATIENTS AND METHODS: Anonymous data...

  8. Quality of Arithmetic Education for Children with Cerebral Palsy

    Science.gov (United States)

    Jenks, Kathleen M.; de Moor, Jan; van Lieshout, Ernest C. D. M.; Withagen, Floortje

    2010-01-01

    The aim of this exploratory study was to investigate the quality of arithmetic education for children with cerebral palsy. The use of individual educational plans, amount of arithmetic instruction time, arithmetic instructional grouping, and type of arithmetic teaching method were explored in three groups: children with cerebral palsy (CP) in…

  9. From recurrent peripheral facial palsy to multiple sclerosis.

    Science.gov (United States)

    Ivanković, Mira; Demarin, Vida

    2011-09-01

    Peripheral facial palsy is a clinical entity, which may be presented as the first symptom of multiple sclerosis (MS). Although MS is mostly a multifocal chronic inflammation of the central nervous system, peripheral nervous system can also be involved. Isolated cranial nerve palsies are rare and occur in 1.6% of MS patients. In this report, a case is presented of a 35-year-old woman who developed isolated seventh nerve palsy that was misdiagnosed as Bell's palsy. Despite recurrent peripheral facial palsy, positive cerebrospinal fluid finding and magnetic resonance imaging, the diagnosis of MS could only be confirmed when the patient developed other neurologic symptoms and when the criteria for dissemination in space were satisfied. In clinical presentation, the patient had only cranial nerve involvement, with complete recovery.

  10. Dynamic touch is affected in children with cerebral palsy.

    Science.gov (United States)

    Ocarino, Juliana M; Fonseca, Sergio T; Silva, Paula L P; Gonçalves, Gabriela G P; Souza, Thales R; Mancini, Marisa C

    2014-02-01

    Children with developmental disorders such as cerebral palsy have limited opportunities for effortful interactions with objects and tools. The goal of the study was to investigate whether children with cerebral palsy have deficits in their ability to perceive object length by dynamic touch when compared to typically developing children. Fourteen children with typical development and 12 children with cerebral palsy were asked to report the length of hand-held rods after wielding them out of sight. Multilevel regression models indicated that I1 (maximum principal moment of inertia) was a significant predictor of perceived length - LP (pcerebral palsy (group factor) partially explained such variance (p=.002). In addition, accuracy and reliability of the length judgments made by children with cerebral palsy were significantly lower than the typically developing children (p<.05). Theoretical and clinical implications of these results were identified and discussed.

  11. [Current concepts in perinatal brachial plexus palsy. Part 2: late phase. Shoulder deformities].

    Science.gov (United States)

    Dogliotti, Andrés Alejandro

    2011-10-01

    The incidence of obstetric brachial palsy is high and their sequelaes are frequent. Physiotherapy, microsurgical nerve reconstruction and secondary corrections are used together to improve the shoulder function. The most common posture is shoulder in internal rotation and adduction, because of the antagonist weakness. The muscle forces imbalance over the osteoarticular system, will result in a progressive glenohumeral joint deformity which can be recognized with a magnetic resonance image. Tendon transfers of the internal rotators towards the external abductor/rotator muscles, has good results, but has to be combined with antero-inferior soft-tissue releases, if passive range of motion is limited.

  12. Aggressive osteoblastoma in mastoid process of temporal bone with facial palsy

    Directory of Open Access Journals (Sweden)

    Manoj Jain

    2013-01-01

    Full Text Available Osteoblastoma is an uncommon primary bone tumor with a predilection for posterior elements of spine. Its occurrence in temporal bone and middle ear is extremely rare. Clinical symptoms are non-specific and cranial nerve involvement is uncommon. The cytomorphological features of osteoblastoma are not very well defined and the experience is limited to only few reports. We report an interesting and rare case of aggressive osteoblastoma, with progressive hearing loss and facial palsy, involving the mastoid process of temporal bone and middle ear along with the description of cyto-morphological features.

  13. Bell's palsy before Bell : Cornelis Stalpart van der Wiel's observation of Bell's palsy in 1683

    NARCIS (Netherlands)

    van de Graaf, RC; Nicolai, JPA

    2005-01-01

    Bell's palsy is named after Sir Charles Bell (1774-1842), who has long been considered to be the first to describe idiopathic facial paralysis in the early 19th century. However, it was discovered that Nicolaus Anton Friedreich (1761-1836) and James Douglas (1675-1742) preceded him in the 18th centu

  14. Worster-Drought Syndrome: Poorly Recognized despite Severe and Persistent Difficulties with Feeding and Speech

    Science.gov (United States)

    Clark, Maria; Harris, Rebecca; Jolleff, Nicola; Price, Katie; Neville, Brian G. R.

    2010-01-01

    Aim: Worster-Drought syndrome (WDS), or congenital suprabulbar paresis, is a permanent movement disorder of the bulbar muscles causing persistent difficulties with swallowing, feeding, speech, and saliva control owing to a non-progressive disturbance in early brain development. As such, it falls within the cerebral palsies. The aim of this study…

  15. Sweet food preference in amyotrophic lateral sclerosis

    OpenAIRE

    Turner, M; Talbot, K

    2017-01-01

    An elderly female developed anarthria with prominent emotionality over an 18 month period prior to specialist neurological assessment. Although tongue electromyography (EMG) was normal, corticobulbar signs were consistent with amyotrophic lateral sclerosis (ALS), a pattern which in the absence of functional impairment outside of speech and swallowing, is appropriately termed progressive bulbar palsy

  16. Synergic prodegradative activity of Bicalutamide and trehalose on the mutant androgen receptor responsible for spinal and bulbar muscular atrophy.

    Science.gov (United States)

    Giorgetti, Elisa; Rusmini, Paola; Crippa, Valeria; Cristofani, Riccardo; Boncoraglio, Alessandra; Cicardi, Maria E; Galbiati, Mariarita; Poletti, Angelo

    2015-01-01

    Spinal and bulbar muscular atrophy (SBMA) is an X-linked motoneuron disease due to a CAG triplet-repeat expansion in the androgen receptor (AR) gene, which is translated into an elongated polyglutamine (polyQ) tract in AR protein (ARpolyQ). ARpolyQ toxicity is activated by the AR ligand testosterone (or dihydrotestosterone), and the polyQ triggers ARpolyQ misfolding and aggregation in spinal cord motoneurons and muscle cells. In motoneurons, testosterone triggers nuclear toxicity by inducing AR nuclear translocation. Thus, (i) prevention of ARpolyQ nuclear localization, combined with (ii) an increased ARpolyQ cytoplasmic clearance, should reduce its detrimental activity. Using the antiandrogen Bicalutamide (Casodex(®)), which slows down AR activation and nuclear translocation, and the disaccharide trehalose, an autophagy activator, we found that, in motoneurons, the two compounds together reduced ARpolyQ insoluble forms with higher efficiency than that obtained with single treatments. The ARpolyQ clearance was mediated by trehalose-induced autophagy combined with the longer cytoplasmic retention of ARpolyQ bound to Bicalutamide. This allows an increased recognition of misfolded species by the autophagic system prior to their migration into the nucleus. Interestingly, the combinatory use of trehalose and Bicalutamide was also efficient in the removal of insoluble species of AR with a very long polyQ (Q112) tract, which typically aggregates into the cell nuclei. Collectively, these data suggest that the combinatory use of Bicalutamide and trehalose is a novel approach to facilitate ARpolyQ clearance that has to be tested in other cell types target of SBMA (i.e. muscle cells) and in vivo in animal models of SBMA.

  17. Microarray analysis of gene expression by skeletal muscle of three mouse models of Kennedy disease/spinal bulbar muscular atrophy.

    Directory of Open Access Journals (Sweden)

    Kaiguo Mo

    Full Text Available BACKGROUND: Emerging evidence implicates altered gene expression within skeletal muscle in the pathogenesis of Kennedy disease/spinal bulbar muscular atrophy (KD/SBMA. We therefore broadly characterized gene expression in skeletal muscle of three independently generated mouse models of this disease. The mouse models included a polyglutamine expanded (polyQ AR knock-in model (AR113Q, a polyQ AR transgenic model (AR97Q, and a transgenic mouse that overexpresses wild type AR solely in skeletal muscle (HSA-AR. HSA-AR mice were included because they substantially reproduce the KD/SBMA phenotype despite the absence of polyQ AR. METHODOLOGY/PRINCIPAL FINDINGS: We performed microarray analysis of lower hindlimb muscles taken from these three models relative to wild type controls using high density oligonucleotide arrays. All microarray comparisons were made with at least 3 animals in each condition, and only those genes having at least 2-fold difference and whose coefficient of variance was less than 100% were considered to be differentially expressed. When considered globally, there was a similar overlap in gene changes between the 3 models: 19% between HSA-AR and AR97Q, 21% between AR97Q and AR113Q, and 17% between HSA-AR and AR113Q, with 8% shared by all models. Several patterns of gene expression relevant to the disease process were observed. Notably, patterns of gene expression typical of loss of AR function were observed in all three models, as were alterations in genes involved in cell adhesion, energy balance, muscle atrophy and myogenesis. We additionally measured changes similar to those observed in skeletal muscle of a mouse model of Huntington's Disease, and to those common to muscle atrophy from diverse causes. CONCLUSIONS/SIGNIFICANCE: By comparing patterns of gene expression in three independent models of KD/SBMA, we have been able to identify candidate genes that might mediate the core myogenic features of KD/SBMA.

  18. Human adipose-derived mesenchymal stem cells as a new model of spinal and bulbar muscular atrophy.

    Science.gov (United States)

    Dossena, Marta; Bedini, Gloria; Rusmini, Paola; Giorgetti, Elisa; Canazza, Alessandra; Tosetti, Valentina; Salsano, Ettore; Sagnelli, Anna; Mariotti, Caterina; Gellera, Cinzia; Navone, Stefania Elena; Marfia, Giovanni; Alessandri, Giulio; Corsi, Fabio; Parati, Eugenio Agostino; Pareyson, Davide; Poletti, Angelo

    2014-01-01

    Spinal and bulbar muscular atrophy (SBMA) or Kennedy's disease is an X-linked CAG/polyglutamine expansion motoneuron disease, in which an elongated polyglutamine tract (polyQ) in the N-terminal androgen receptor (ARpolyQ) confers toxicity to this protein. Typical markers of SBMA disease are ARpolyQ intranuclear inclusions. These are generated after the ARpolyQ binds to its endogenous ligands, which promotes AR release from chaperones, activation and nuclear translocation, but also cell toxicity. The SBMA mouse models developed so far, and used in preclinical studies, all contain an expanded CAG repeat significantly longer than that of SBMA patients. Here, we propose the use of SBMA patients adipose-derived mesenchymal stem cells (MSCs) as a new human in vitro model to study ARpolyQ toxicity. These cells have the advantage to express only ARpolyQ, and not the wild type AR allele. Therefore, we isolated and characterized adipose-derived MSCs from three SBMA patients (ADSC from Kennedy's patients, ADSCK) and three control volunteers (ADSCs). We found that both ADSCs and ADSCKs express mesenchymal antigens, even if only ADSCs can differentiate into the three typical cell lineages (adipocytes, chondrocytes and osteocytes), whereas ADSCKs, from SBMA patients, showed a lower growth potential and differentiated only into adipocyte. Moreover, analysing AR expression on our mesenchymal cultures we found lower levels in all ADSCKs than ADSCs, possibly related to negative pressures exerted by toxic ARpolyQ in ADSCKs. In addition, with proteasome inhibition the ARpolyQ levels increased specifically in ADSCKs, inducing the formation of HSP70 and ubiquitin positive nuclear ARpolyQ inclusions. Considering all of this evidence, SBMA patients adipose-derived MSCs cultures should be considered an innovative in vitro human model to understand the molecular mechanisms of ARpolyQ toxicity and to test novel therapeutic approaches in SBMA.

  19. Enhanced aggregation of androgen receptor in induced pluripotent stem cell-derived neurons from spinal and bulbar muscular atrophy.

    Science.gov (United States)

    Nihei, Yoshihiro; Ito, Daisuke; Okada, Yohei; Akamatsu, Wado; Yagi, Takuya; Yoshizaki, Takahito; Okano, Hideyuki; Suzuki, Norihiro

    2013-03-22

    Spinal and bulbar muscular atrophy (SBMA) is an X-linked motor neuron disease caused by a CAG repeat expansion in the androgen receptor (AR) gene. Ligand-dependent nuclear accumulation of mutant AR protein is a critical characteristic of the pathogenesis of SBMA. SBMA has been modeled in AR-overexpressing animals, but precisely how the polyglutamine (polyQ) expansion leads to neurodegeneration is unclear. Induced pluripotent stem cells (iPSCs) are a new technology that can be used to model human diseases, study pathogenic mechanisms, and develop novel drugs. We established SBMA patient-derived iPSCs, investigated their cellular biochemical characteristics, and found that SBMA-iPSCs can differentiate into motor neurons. The CAG repeat numbers in the AR gene of SBMA-iPSCs and also in the atrophin-1 gene of iPSCs derived from another polyQ disease, dentato-rubro-pallido-luysian atrophy (DRPLA), remain unchanged during reprogramming, long term passage, and differentiation, indicating that polyQ disease-associated CAG repeats are stable during maintenance of iPSCs. The level of AR expression is up-regulated by neuronal differentiation and treatment with the AR ligand dihydrotestosterone. Filter retardation assays indicated that aggregation of ARs following dihydrotestosterone treatment in neurons derived from SBMA-iPSCs increases significantly compared with neurological control iPSCs, easily recapitulating the pathological feature of mutant ARs in SBMA-iPSCs. This phenomenon was not observed in iPSCs and fibroblasts, thereby showing the neuron-dominant phenotype of this disease. Furthermore, the HSP90 inhibitor 17-allylaminogeldanamycin sharply decreased the level of aggregated AR in neurons derived from SBMA-iPSCs, indicating a potential for discovery and validation of candidate drugs. We found that SBMA-iPSCs possess disease-specific biochemical features and could thus open new avenues of research into not only SBMA, but also other polyglutamine diseases.

  20. Human adipose-derived mesenchymal stem cells as a new model of spinal and bulbar muscular atrophy.

    Directory of Open Access Journals (Sweden)

    Marta Dossena

    Full Text Available Spinal and bulbar muscular atrophy (SBMA or Kennedy's disease is an X-linked CAG/polyglutamine expansion motoneuron disease, in which an elongated polyglutamine tract (polyQ in the N-terminal androgen receptor (ARpolyQ confers toxicity to this protein. Typical markers of SBMA disease are ARpolyQ intranuclear inclusions. These are generated after the ARpolyQ binds to its endogenous ligands, which promotes AR release from chaperones, activation and nuclear translocation, but also cell toxicity. The SBMA mouse models developed so far, and used in preclinical studies, all contain an expanded CAG repeat significantly longer than that of SBMA patients. Here, we propose the use of SBMA patients adipose-derived mesenchymal stem cells (MSCs as a new human in vitro model to study ARpolyQ toxicity. These cells have the advantage to express only ARpolyQ, and not the wild type AR allele. Therefore, we isolated and characterized adipose-derived MSCs from three SBMA patients (ADSC from Kennedy's patients, ADSCK and three control volunteers (ADSCs. We found that both ADSCs and ADSCKs express mesenchymal antigens, even if only ADSCs can differentiate into the three typical cell lineages (adipocytes, chondrocytes and osteocytes, whereas ADSCKs, from SBMA patients, showed a lower growth potential and differentiated only into adipocyte. Moreover, analysing AR expression on our mesenchymal cultures we found lower levels in all ADSCKs than ADSCs, possibly related to negative pressures exerted by toxic ARpolyQ in ADSCKs. In addition, with proteasome inhibition the ARpolyQ levels increased specifically in ADSCKs, inducing the formation of HSP70 and ubiquitin positive nuclear ARpolyQ inclusions. Considering all of this evidence, SBMA patients adipose-derived MSCs cultures should be considered an innovative in vitro human model to understand the molecular mechanisms of ARpolyQ toxicity and to test novel therapeutic approaches in SBMA.

  1. Peripheral facial nerve palsy after therapeutic endoscopy.

    Science.gov (United States)

    Kim, Eun Jeong; Lee, Jun; Lee, Ji Woon; Lee, Jun Hyung; Park, Chol Jin; Kim, Young Dae; Lee, Hyun Jin

    2015-03-01

    Peripheral facial nerve palsy (FNP) is a mononeuropathy that affects the peripheral part of the facial nerve. Primary causes of peripheral FNP remain largely unknown, but detectable causes include systemic infections (viral and others), trauma, ischemia, tumor, and extrinsic compression. Peripheral FNP in relation to extrinsic compression has rarely been described in case reports. Here, we report a case of a 71-year-old man who was diagnosed with peripheral FNP following endoscopic submucosal dissection. This case is the first report of the development of peripheral FNP in a patient undergoing therapeutic endoscopy. We emphasize the fact that physicians should be attentive to the development of peripheral FNP following therapeutic endoscopy.

  2. REHABILITATION OF PERSONS WITH CEREBRAL PALSY

    Directory of Open Access Journals (Sweden)

    Natasa CICEVSKA-JOVANOVA

    2000-06-01

    Full Text Available The persons with cerebral palsy with motoric impairments as a primary demmages, they have other following disables: visual impairments, hearing impairments, speech disables and very often they have intellectual difficulties.This persons in school have problems with writing, they couldn’t oriented in the books, they have difficulties with manipulation with school’s supplies and didactic materials, they couldn’t follow the order of the words in the line during the reading and the writing and etc.Using the exercises of psycho-motor reeducation, all before mentioned difficulties and problems can be mitigate or disappear.

  3. Education and employment prospects in cerebral palsy

    DEFF Research Database (Denmark)

    Michelsen, Susan Ishøy; Uldall, Peter; Kejs, Anne Mette T

    2005-01-01

    Parents and paediatric neurologists need information on the long-term social prognosis of children with cerebral palsy (CP). No large population-based study has been performed on this topic. On 31 December 1999, to find predictors in childhood of subsequent education and employment, 819...... information was obtained from Denmark's unique registries. Of the participants with CP, 33% vs 77% of controls, had education beyond lower secondary school (i.e. after age 15-16y), 29% were competitively employed (vs 82% of controls), 5% were studying, and 5% had specially created jobs. Excluding participants...

  4. Education and employment prospects in cerebral palsy

    DEFF Research Database (Denmark)

    Michelsen, Susan Ishøy; Uldall, Peter; Kejs, Anne Mette T;

    2005-01-01

    information was obtained from Denmark's unique registries. Of the participants with CP, 33% vs 77% of controls, had education beyond lower secondary school (i.e. after age 15-16y), 29% were competitively employed (vs 82% of controls), 5% were studying, and 5% had specially created jobs. Excluding participants......Parents and paediatric neurologists need information on the long-term social prognosis of children with cerebral palsy (CP). No large population-based study has been performed on this topic. On 31 December 1999, to find predictors in childhood of subsequent education and employment, 819...

  5. Vocal cord palsy: An uncommon presenting feature of myasthenia gravis

    Directory of Open Access Journals (Sweden)

    Sethi Prahlad

    2011-01-01

    Full Text Available Vocal cord palsy can have myriad causes. Unilateral vocal cord palsy is common and frequently asymptomatic. Trauma, head, neck and mediastinal tumors as well as cerebrovascular accidents have been implicated in causing unilateral vocal cord palsy. Viral neuronitis accounts for most idiopathic cases. Bilateral vocal cord palsy, on the other hand, is much less common and is a potentially life-threatening condition. Myasthenia gravis, an autoimmune disorder caused by antibodies targeting the post-synaptic acetylcholine receptor, has been infrequently implicated in its causation. We report here a case of bilateral vocal cord palsy developing in a 68-year-old man with no prior history of myasthenia gravis 2 months after he was operated on for diverticulitis of the large intestine. Delay in considering the diagnosis led to endotracheal intubation and prolonged mechanical ventilation with attendant complications. Our case adds to the existing literature implicating myasthenia gravis as an infrequent cause of bilateral vocal cord palsy. Our case is unusual as, in our patient, acute-onset respiratory distress and stridor due to bilateral vocal cord palsy was the first manifestation of a myasthenic syndrome.

  6. Olfactory impairment in the rotenone model of Parkinson’s disease is associated with bulbar dopaminergic D2 activity after REM sleep deprivation

    Science.gov (United States)

    Rodrigues, Lais S.; Targa, Adriano D. S.; Noseda, Ana Carolina D.; Aurich, Mariana F.; Da Cunha, Cláudio; Lima, Marcelo M. S.

    2014-01-01

    Olfactory and rapid eye movement (REM) sleep deficits are commonly found in untreated subjects with a recent diagnosis of Parkinson’s disease (PD). Additionally, different studies report declines in olfactory performance during a short period of sleep deprivation. Mechanisms underlying these clinical manifestations are poorly understood, and impairment of dopamine (DA) neurotransmission in the olfactory bulb and the nigrostriatal pathway may have important roles in olfaction and REM sleep disturbances. Therefore, we hypothesized that modulation of the dopaminergic D2 receptors in the olfactory bulb could provide a more comprehensive understanding of the olfactory deficits in PD and REM sleep deprivation (REMSD). We decided to investigate the olfactory, neurochemical, and histological alterations generated through the administration of piribedil (a selective D2 agonist) or raclopride (a selective D2 antagonist) within the glomerular layer of the olfactory bulb, in rats subjected to intranigral rotenone and REMSD. Our findings provide evidence of the occurrence of a negative correlation (r = −0.52, P = 0.04) between the number of periglomerular TH-ir neurons and the bulbar levels of DA in the rotenone, but not sham, groups. A significant positive correlation (r = 0.34, P = 0.03) was observed between nigrostriatal DA levels and olfactory discrimination index (DI) for the sham groups, indicating that increased DA levels in the substantia nigra pars compacta (SNpc) are associated with enhanced olfactory discrimination performance. Also, increased levels in bulbar and striatal DA were induced by piribedil in the rotenone control and rotenone REMSD groups, consistent with reductions in the DI. The present evidence reinforce the idea that DA produced by periglomerular neurons, particularly the bulbar dopaminergic D2 receptors, is an essential participant in olfactory discrimination processes, as the SNpc, and the striatum. PMID:25520618

  7. Olfactory impairment in the rotenone model of Parkinson's disease is associated with bulbar dopaminergic D2 activity after REM sleep deprivation

    Directory of Open Access Journals (Sweden)

    Laís Soares Rodrigues

    2014-12-01

    Full Text Available Olfactory and rapid eye movement (REM sleep deficits are commonly found in untreated subjects with a recent diagnosis of Parkinson's disease (PD. Besides different studies reported declines in olfactory performances during a short period of sleep deprivation. Mechanisms underlying these clinical manifestations are poorly understood although the impairment in the dopamine (DA neurotransmission in the olfactory bulb and in the nigrostriatal pathway may have important roles in olfactory as well as in REM sleep disturbances. Therefore, we have led to the hypothesis that a modulation of the dopaminergic D2 receptors in the olfactory bulb could provide a more comprehensive understanding of the olfactory deficits in PD and after a short period of REM sleep deprivation (REMSD. We decided to investigate the olfactory, neurochemical and histological alterations generated by the administration of piribedil (a selective D2 agonist or raclopride (a selective D2 antagonist, within the glomerular layer of the olfactory bulb, in rats submitted to intranigral rotenone and REMSD. Our findings provided a remarkable evidence of the occurrence of a negative correlation (r = - 0.52, P = 0.04 between the number of periglomerular TH-ir neurons and the bulbar levels of DA in the rotenone, but not sham groups. A significant positive correlation (r = 0.34, P = 0.03 was observed between nigral DA and olfactory discrimination index (DI, for the sham groups, indicating that increased DA levels in the substantia nigra pars compacta (SNpc are associated to enhanced olfactory discrimination performance. Also, increased levels in bulbar and striatal DA induced by piribedil in the rotenone control and rotenone REMSD groups were consistent with reduced amounts of DI. The present evidence reinforce that DA produced by periglomerular neurons, and particularly the bulbar dopaminergic D2 receptors, are essential participants in the olfactory discrimination processes, as well as SNpc

  8. Olfactory impairment in the rotenone model of Parkinson's disease is associated with bulbar dopaminergic D2 activity after REM sleep deprivation.

    Science.gov (United States)

    Rodrigues, Lais S; Targa, Adriano D S; Noseda, Ana Carolina D; Aurich, Mariana F; Da Cunha, Cláudio; Lima, Marcelo M S

    2014-01-01

    Olfactory and rapid eye movement (REM) sleep deficits are commonly found in untreated subjects with a recent diagnosis of Parkinson's disease (PD). Additionally, different studies report declines in olfactory performance during a short period of sleep deprivation. Mechanisms underlying these clinical manifestations are poorly understood, and impairment of dopamine (DA) neurotransmission in the olfactory bulb and the nigrostriatal pathway may have important roles in olfaction and REM sleep disturbances. Therefore, we hypothesized that modulation of the dopaminergic D2 receptors in the olfactory bulb could provide a more comprehensive understanding of the olfactory deficits in PD and REM sleep deprivation (REMSD). We decided to investigate the olfactory, neurochemical, and histological alterations generated through the administration of piribedil (a selective D2 agonist) or raclopride (a selective D2 antagonist) within the glomerular layer of the olfactory bulb, in rats subjected to intranigral rotenone and REMSD. Our findings provide evidence of the occurrence of a negative correlation (r = -0.52, P = 0.04) between the number of periglomerular TH-ir neurons and the bulbar levels of DA in the rotenone, but not sham, groups. A significant positive correlation (r = 0.34, P = 0.03) was observed between nigrostriatal DA levels and olfactory discrimination index (DI) for the sham groups, indicating that increased DA levels in the substantia nigra pars compacta (SNpc) are associated with enhanced olfactory discrimination performance. Also, increased levels in bulbar and striatal DA were induced by piribedil in the rotenone control and rotenone REMSD groups, consistent with reductions in the DI. The present evidence reinforce the idea that DA produced by periglomerular neurons, particularly the bulbar dopaminergic D2 receptors, is an essential participant in olfactory discrimination processes, as the SNpc, and the striatum.

  9. Etiopathogenesis of lower motor neuron facial palsy: Our experience

    Directory of Open Access Journals (Sweden)

    M Venugopal

    2011-01-01

    Full Text Available Introduction : Facial nerve is the seventh cranial nerve having important functions, and hence its paralysis can lead to a great deal of mechanical impairment and emotional embarrassment. Etiopathogenisis of lower motor neuron facial palsy is still a diagnostic challenge and the literature has shown varying results pertaining to the same. This study was designed to sketch out the prevalence of disease causation and the profile of peripheral facial palsy patients presenting to the ENT department at Government Medical College, Kozhikode. Materials and Methods : A prospective study involving 60 patients with facial nerve palsy, presented during the period November 2006 to October 2008, was undertaken. Detailed analysis of etiopathogenesis, age and sex distribution, severity of palsy, anatomical levels and follow up for 1 year was done. Results : Trauma, both iatrogenic and non-iatrogenic, was the most widespread etiology in our study, followed by Bell′s palsy which is described as the commonest cause in world literature. Majority of the patients belonged to the age group of 31-40 years and there was slight male preponderance Non-iatrogenic facial palsy following road traffic accident was common in young males, while females dominated in infectious palsies. Majority of cases reported with grade III palsy, followed by grade IV. High-resolution computed tomography of temporal bone is exceedingly sensitive in delineating facial canal. Conclusions : Data analysis shows similarity with the existing literature except a novel trend towards amplified incidence of trauma surpassing Bell′s palsy. The need for comprehensive history taking, meticulous clinical examination, judicious investigations and appropriate intervention is substantiated by the study.

  10. On the Use of Dance as a Rehabilitation Approach for Children with Cerebral Palsy: A Single Case Study.

    Science.gov (United States)

    Morán Pascual, Patricia; Mortes Roselló, Esther; Domingo Jacinto, Amparo; Belda Lois, Juan Manuel; Bermejo, Ignacio; Medina, Enric; Barberà Guillem, Ricard

    2015-01-01

    Cerebral Palsy (CP) is the most common motor disability in childhood. It is a group of permanent disorders that affect child development causing disorders of movement and posture and activity limitations. The impairment of psychomotor skills of children with Cerebral Palsy is attributed to a permanent alteration occurred in non-progressive brain development of the fetus or nursing infant. Some motor related symptoms can be treated using proper physical therapy. However, one of the biggest problems of the usual physical therapy is adherence to therapy. Ballet can be an alternative or a complement to physiotherapy, with the added attraction of not being part of a to therapy, but a fun activity with the extra reward associated with the realization of an artistic activity. For some years the ballet is used as therapeutically valuable for both children with cerebral palsy: Intensive ballet training can generate changes in the sensorimotor cortex. Ballet is characterized by a complex process of movements that have to be in a musical rhythm (hence have to be precise), in which there is an overall coordination of the muscles. It is also a highly motivating and rewarding activity that allows many children with CP sharing the activities of their peers without special needs. Objective measurements of the Full Port de Bras movement has been chosen as an index of improvement. The results shows progressive improvements of the execution in a single case.

  11. Buccal mucosal graft urethroplasty for proximal bulbar urethral stricture: A revisit of the surgical technique and analysis of eleven consecutive cases

    Directory of Open Access Journals (Sweden)

    Irekpita Eshiobo

    2016-01-01

    Full Text Available Background: Urethral stricture disease is prevalent, and many surgical techniques have been developed to treat it. Currently, urethroplasty for bulbar strictures implies ventral or dorsal stricturotomy and a buccal mucosa graft (BMG patch. Objective: To describe the surgical approach of the ventral patch BMG urethroplasty for proximal bulbar urethral stricture and to analyze 11 consecutive cases for whom the technique was used. Patients and Methods: The diagnosis of urethral stricture was confirmed with a combined retrograde urethrography and micturating cystourethrography. A single team exposed the urethra, harvested, and planted the BMG in the lithotomy position under general anesthesia. The oral preoperative preparation was done with oraldene (hexetidine mouth wash three times daily beginning from the 2nd preoperative day. The buccal mucosa was harvested from the left inner cheek in all the patients. The donor site was left unclosed but packed with wet gauze. Data related to age, preoperative adverse conditions, stricture length, urine culture result, perineal/oral wound complications, postoperative residual urine volume, and duration of hospital stay were recorded. Results: Eleven patients with proximal bulbar urethral stricture had BMG urethroplasty from August 2013 to October 2015. Stricture length ranged from 2 to 5 cm. In six (54% of the men, the stricture resulted from urethritis thereby constituting the most common etiology of urethral stricture in this study. The preoperative adverse conditions were age above 70 in three, diabetes mellitus in two, severe dental caries in one, and recurrent stricture in two. All of them were able to resume reasonable oral intake 72 h postoperatively. One (9.2% had perineal wound infection, while two (18.2% still had mild pain at donor site 4 weeks postoperatively. Ten (90.9% of the 11 patients had <30 ml residual urine volume at 2 months of follow-up. Conclusion: Urethritis is still a common cause of

  12. The history of facial palsy and spasm: Hippocrates to Razi.

    Science.gov (United States)

    Sajadi, Mohammad M; Sajadi, Mohamad-Reza M; Tabatabaie, Seyed Mahmoud

    2011-07-12

    Although Sir Charles Bell was the first to provide the anatomic basis for the condition that bears his name, in recent years researchers have shown that other European physicians provided earlier clinical descriptions of peripheral cranial nerve 7 palsy. In this article, we describe the history of facial distortion by Greek, Roman, and Persian physicians, culminating in Razi's detailed description in al-Hawi. Razi distinguished facial muscle spasm from paralysis, distinguished central from peripheral lesions, gave the earliest description of loss of forehead wrinkling, and gave the earliest known description of bilateral facial palsy. In doing so, he accurately described the clinical hallmarks of a condition that we recognize as Bell palsy.

  13. Novel transcriptional profile in wrist muscles from cerebral palsy patients

    Directory of Open Access Journals (Sweden)

    Subramaniam Shankar

    2009-07-01

    Full Text Available Abstract Background Cerebral palsy (CP is an upper motor neuron disease that results in a progressive movement disorder. Secondary to the neurological insult, muscles from CP patients often become spastic. Spastic muscle is characterized by an increased resistance to stretch, but often develops the further complication of contracture which represents a prominent disability in children with CP. This study's purpose is to characterize alterations of spastic muscle on the transcriptional level. Increased knowledge of spastic muscle may lead to novel therapies to improve the quality of life for children with CP. Method The transcriptional profile of spastic muscles were defined in children with cerebral palsy and compared to control patients using Affymetrix U133A chips. Expression data were verified using quantitative-PCR (QPCR and validated with SDS-PAGE for select genes. Significant genes were determined using a 2 × 2 ANOVA and results required congruence between 3 preprocessing algorithms. Results CP patients clustered independently and 205 genes were significantly altered, covering a range of cellular processes. Placing gene expression in the context of physiological pathways, the results demonstrated that spastic muscle in CP adapts transcriptionally by altering extracellular matrix, fiber type, and myogenic potential. Extracellular matrix adaptations occur primarily in the basal lamina although there is increase in fibrillar collagen components. Fiber type is predominately fast compared to normal muscle as evidenced by contractile gene isoforms and decrease in oxidative metabolic gene transcription, despite a paradoxical increased transcription of slow fiber pathway genes. We also found competing pathways of fiber hypertrophy with an increase in the anabolic IGF1 gene in parallel with a paradoxical increase in myostatin, a gene responsible for stopping muscle growth. We found evidence that excitation-contraction coupling genes are altered in

  14. 小儿脑瘫康复治疗浅析%An analysis of the recovery of infantile cerebral palsy

    Institute of Scientific and Technical Information of China (English)

    吴丽影; 张园园

    2015-01-01

    小儿脑瘫是脑实质的损害,出现非进行性、中枢性运动功能障碍,进而影响小儿生长发育,其康复评定、中医和西医治疗手段丰富,故探讨治疗方法的适用性,为小儿脑瘫康复提供治疗思路。%Children with cerebral palsy is substantial brain damage, appears non-progressive, central motor dysfunction, affecting the growth and development of children. Rehabilitation assessment, TCM and western medicine can provide a method of treating cerebral palsy in children.

  15. Early intervention to improve hand function in hemiplegic cerebral palsy

    Directory of Open Access Journals (Sweden)

    Anna Purna Basu

    2015-01-01

    Full Text Available Children with hemiplegic cerebral palsy often have marked hand involvement with excessive thumb adduction and flexion and limited active wrist extension from infancy. Post-lesional aberrant plasticity can lead to progressive abnormalities of the developing motor system. Disturbances of somatosensory and visual function and developmental disregard contribute to difficulties with hand use. Progressive soft tissue and bony changes may occur, leading to contractures which further limit function in a vicious cycle. Early intervention might help to break this cycle: however, the precise nature and appropriateness of the intervention must be carefully considered. Traditional approaches to the hemiplegic upper limb include medications and botulinum toxin injections to manage abnormalities of tone, and surgical interventions. Therapist input, including provision of orthoses, remains a mainstay although many therapies have not been well evaluated. There has been a recent increase in interventions for the hemiplegic upper limb, mostly aimed outside the period of infancy. These include trials of constraint-induced movement therapy and bimanual therapy as well as the use of virtual reality and robot-assisted therapy. In future, non-invasive brain stimulation may be combined with therapy. Interventions under investigation in the infant age group include modified constraint-induced movement therapy and action observation therapy. A further approach which may be suited to the infant with thumb-in-palm deformity, but which requires evaluation, is the use of elastic taping. Enhanced cutaneous feedback through mechanical stimulation to the skin provided by the tape during movement has been postulated to modulate ongoing muscle activity. If effective, this would represent a low-cost, safe, widely applicable early intervention.

  16. Pseudoradial Nerve Palsy Caused by Acute Ischemic Stroke

    Directory of Open Access Journals (Sweden)

    Hassan Tahir MD

    2016-07-01

    Full Text Available Pseudoperipheral palsy has been used to characterize isolated monoparesis secondary to stroke. Isolated hand nerve palsy is a rare presentation for acute cerebral stroke. Our patient presented with clinical features of typical peripheral radial nerve palsy and a normal computed tomography scan of the head, which, without a detailed history and neurological examination, could have been easily misdiagnosed as a peripheral nerve lesion deferring further investigation for a stroke. We stress the importance of including cerebral infarction as a critical differential diagnosis in patients presenting with sensory-motor deficit in an isolated peripheral nerve pattern. A good history and physical exam can differentiate stroke from peripheral neuropathy as the cause of radial nerve palsy.

  17. Lame from birth: early concepts of cerebral palsy.

    Science.gov (United States)

    Obladen, Michael

    2011-02-01

    Deformations have been attributed to supernatural causes since antiquity. Cerebral palsy was associated with God's wrath, witchcraft, the evil eye, or maternal imagination. Greek scholars recommended prevention by tight swaddling, a custom that persisted into modern times. In the Middle Ages, the midwife's negligence was held responsible as was difficult teething. Morgagni described in 1769 that the neonatal brain can liquefy, and Bednar described leukomalacia in 1850 as a distinct disorder of the newborn. In 1861, Little associated cerebral palsies with difficult or protracted labor and neonatal asphyxia, but he was challenged by Freud, who in 1897 declared that most cases are prenatal in origin. In 1868, Virchow demonstrated inflammatory changes, a view recently confirmed by Leviton and Nelson. Although a causal relationship of cerebral palsy to the birth never has been established, the habit to put the blame for cerebral palsy on someone remained a frequent attitude.

  18. Postural control in sitting children with cerebral palsy

    NARCIS (Netherlands)

    Brogren, E; Hadders-Algra, M; Forssberg, H

    1998-01-01

    Children with cerebral palsy (CP) display postural problems, largely interfering with daily life activities. Clarification of neural mechanisms controlling posture in these children could serve as a base for more successful intervention. Studies on postural adjustments following horizontal forward a

  19. Health-related physical fitness for children with cerebral palsy.

    Science.gov (United States)

    Maltais, Désirée B; Wiart, Lesley; Fowler, Eileen; Verschuren, Olaf; Damiano, Diane L

    2014-08-01

    Low levels of physical activity are a global health concern for all children. Children with cerebral palsy have even lower physical activity levels than their typically developing peers. Low levels of physical activity, and thus an increased risk for related chronic diseases, are associated with deficits in health-related physical fitness. Recent research has provided therapists with the resources to effectively perform physical fitness testing and physical activity training in clinical settings with children who have cerebral palsy, although most testing and training data to date pertains to those who walk. Nevertheless, on the basis of the present evidence, all children with cerebral palsy should engage, to the extent they are able, in aerobic, anaerobic, and muscle-strengthening activities. Future research is required to determine the best ways to evaluate health-related physical fitness in nonambulatory children with cerebral palsy and foster long-term changes in physical activity behavior in all children with this condition.

  20. Obstetrical brachial plexus palsy (OBPP) outcome with conservative management

    NARCIS (Netherlands)

    Eng, GD; Binder, H; Getson, P; ODonnell, R

    1996-01-01

    Resurgence of neurosurgical intervention oi obstetrical brachial plexus palsy prompted our review of 186 patients evaluated between 1981 and 1993, correlating clinical examination, electrodiagnosis, and functional outcome with conservative management. Eighty-eight percent had upper brachial plexus p

  1. Combination of Citicoline and Physiotherapy in Children with Cerebral Palsy

    Directory of Open Access Journals (Sweden)

    Jafar Nasiri

    2014-01-01

    Conclusions: Results demonstrated that citicoline in combination to physiotherapy appears to be a promising agent to improve gross motor function in patients with cerebral palsy versus physiotherapy alone. Although, further studies are need to be done.

  2. Proteasome-mediated proteolysis of the polyglutamine-expanded androgen receptor is a late event in spinal and bulbar muscular atrophy (SBMA) pathogenesis.

    Science.gov (United States)

    Heine, Erin M; Berger, Tamar R; Pluciennik, Anna; Orr, Christopher R; Zboray, Lori; Merry, Diane E

    2015-05-15

    Proteolysis of polyglutamine-expanded proteins is thought to be a required step in the pathogenesis of several neurodegenerative diseases. The accepted view for many polyglutamine proteins is that proteolysis of the mutant protein produces a "toxic fragment" that induces neuronal dysfunction and death in a soluble form; toxicity of the fragment is buffered by its incorporation into amyloid-like inclusions. In contrast to this view, we show that, in the polyglutamine disease spinal and bulbar muscular atrophy, proteolysis of the mutant androgen receptor (AR) is a late event. Immunocytochemical and biochemical analyses revealed that the mutant AR aggregates as a full-length protein, becoming proteolyzed to a smaller fragment through a process requiring the proteasome after it is incorporated into intranuclear inclusions. Moreover, the toxicity-predicting conformational antibody 3B5H10 bound to soluble full-length AR species but not to fragment-containing nuclear inclusions. These data suggest that the AR is toxic as a full-length protein, challenging the notion of polyglutamine protein fragment-associated toxicity by redefining the role of AR proteolysis in spinal and bulbar muscular atrophy pathogenesis.

  3. Clinical significance of the corpus callosum in cerebral palsy

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Eun Ja; Kim, Ji Chang [The Catholic University of Korea, Seoul (Korea, Republic of); Kim, Jong Chul [School of Medicine, Chungnam National University, Taejon (Korea, Republic of); And Others

    2000-10-01

    To evaluate, using magnetic resonance (MR) imaging, the clinal significance of the corpus callosum by measuring the size of various portions of the corpus callosum in children with cerebral palsy, and in paired controls. Fifty-two children (30 boys and 22 girls aged between six and 96 (median, 19) months) in whom cerebral palsy was clinically diagnosed underwent MR imaging. There were 23 term patients and 29 preterm, and the control group was selected by age and sex matching. Clinal subtypes of cerebral palsy were classified as hemiplegia (n=14), spastic diplegia (n=22), or spastic quadriplegia (n=16), and according to the severity of motor palsy, the condition was also classified as mild (n=26), moderate (n=13), or severe (n=13). In addition to the length and height of the corpus callosum, the thickness of its genu, body, transitional zone and splenium, as seen on midsagittal T1-weighted MR images, were also measured. Differences in the measured values of the two groups were statistically analysed and differences in the size of the corpus callosum according to the clinical severity and subtypes of cerebral palsy, and gestational age, were also assessed. Except for height, the measured values of the corpus callosum in patients with cerebral palsy were significantly less than those of the control group (p less than 0.05). Its size decreased according to the severity of motor palsy. Compared with term patients, the corpus callosum in preterm patients was considerably smaller (p less than 0.05). There was statistically significant correlation between the severity of motor palsy and the size of the corpus callosum. Quantitative evaluation of the corpus callosum might be a good indicator of neurologic prognosis, and a sensitive marker for assessing the extent of brain injury.

  4. The Effect of Hominis Placenta Herbal Acupuncture on Bell's palsy

    OpenAIRE

    2000-01-01

    This report was done to observe the effect of Hominis placenta herbal acupuncture on Bell's palsy. The study group comprised 16 patients who arrived at Woo-suk university oriental hospital from January, 1999 till January, 2000 for Bell's palsy. All patients were divided into two group. One was herbal acupunture group, and the other was control group. Acupunture group was done herbal acupuncture therapy on the facial acupuncture points. Followings are achievement and a term of each group. I...

  5. Attentional and executive impairments in children with spastic cerebral palsy

    DEFF Research Database (Denmark)

    Bottcher, Louise; Flachs, Esben Meulengracht; Uldall, Peter

    2010-01-01

    Children with cerebral palsy (CP) are reported to have learning and social problems. The aim of the present study was to examine whether children with CP have impairments in attention or executive function.......Children with cerebral palsy (CP) are reported to have learning and social problems. The aim of the present study was to examine whether children with CP have impairments in attention or executive function....

  6. Stability and Harmony of Gait in Children with Cerebral Palsy

    Science.gov (United States)

    Iosa, Marco; Marro, Tiziana; Paolucci, Stefano; Morelli, Daniela

    2012-01-01

    The aim of this study was to quantitatively assess the stability and harmony of gait in children with cerebral palsy. Seventeen children with spastic hemiplegia due to cerebral palsy (5.0 [plus or minus] 2.3 years old) who were able to walk autonomously and seventeen age-matched children with typical development (5.7 [plus or minus] 2.5 years old,…

  7. The management of scoliosis in children with cerebral palsy: a review

    Science.gov (United States)

    Gardner, Adrian

    2016-01-01

    Children who suffer with cerebral palsy (CP) have a significant chance of developing scoliosis during their early years and adolescence. The behavior of this scoliosis is closely associated with the severity of the CP disability and unlike idiopathic scoliosis, it continues to progress beyond skeletal maturity. Conservative measures may slow the progression of the curve, however, surgery remains the only definitive management option. Advances in surgical technique over the last 50 years have provided methods to effectively treat the deformity while also reducing complication rates. The increased risk of surgical complications with these complex patients make decisions about treatment challenging, however with careful pre-operative optimization and post-operative care, surgery can offer a significant improvement in quality of life. This review discusses the development of scoliosis in CP patient, evaluates conservative and surgical treatment options and assesses post-operative outcome. PMID:28097247

  8. Evaluation of postural stability in children with hemiplegic cerebral palsy

    Science.gov (United States)

    Kenis-Coskun, Ozge; Giray, Esra; Eren, Beyhan; Ozkok, Ozlem; Karadag-Saygi, Evrim

    2016-01-01

    [Purpose] Postural stability is the ability of to maintain the position of the body within the support area. This function is affected in cerebral palsy. The aim of the present study was to compare static and dynamic postural stability between children with hemiplegic cerebral palsy and healthy controls. [Subjects and Methods] Thirty-seven children between the ages of 5 and 14 diagnosed with hemiplegic cerebral palsy (19 right, 18 left) and 23 healthy gender- and age-matched controls were included in the study. Postural stability was evaluated in both of the groups using a Neurocom Balance. Sway velocity was measured both with the eyes open and closed. Sit to stand and turning abilities were also assessed. [Results] The sway velocities with the eyes open and closed were significantly different between the groups. The weight transfer time in the Sit to Stand test was also significantly slower in children with cerebral palsy. Children with cerebral palsy also showed slower turning times and greater sway velocities during the Step and Quick Turn test on a force plate compared with their healthy counterparts. [Conclusion] Both static and dynamic postural stability parameters are affected in hemiplegic cerebral palsy. Further research is needed to define rehabilitation interventions to improve these parameters in patients. PMID:27313338

  9. Gait analysis of children with spastic hemiplegic cerebral palsy

    Institute of Scientific and Technical Information of China (English)

    Xin Wang; Yuexi Wang

    2012-01-01

    An experiment was carried out in the key laboratory for Technique Diagnosis and Function Assessment of Winter Sports of China to investigate the differences in gait characteristics between healthy children and children with spastic hemiplegic cerebral palsy. With permission of their parents, 200 healthy children aged 3 to 6 years in the kindergarten of Northeastern University were enrolled in this experiment. Twenty children aged 3 to 6 years with spastic hemiplegic cerebral palsy from Shengjing Hospital, China were also enrolled in this experiment. Standard data were collected by simultaneously recording gait information from two digital cameras.DVracker was used to analyze the standard data. The children with hemiplegic cerebral palsy had a longer gait cycle, slower walking speed, and longer support phase than did the healthy children.The support phase was longer than the swing phase in the children with hemiplegic cerebral palsy. There were significant differences in the angles of the hip, knee, and ankle joint between children with cerebral palsy and healthy children at the moment of touching the ground and buff -ering, and during pedal extension. Children with hemiplegic cerebral palsy had poor motor coordination during walking, which basically resulted in a short stride, high stride frequency to maintain speed, more obvious swing, and poor stability.

  10. Can global positioning systems quantify participation in cerebral palsy?

    Science.gov (United States)

    Ben-Pazi, Hilla; Barzilay, Yair; Shoval, Noam

    2014-06-01

    This study examined whether motor-related participation could be assessed by global positioning systems in individuals with cerebral palsy. Global positioning systems monitoring devices were given to 2 adolescent girls (14-year-old with diplegic cerebral palsy and her 15-year-old healthy sister). Outcome measures were traveling distances, time spent outdoors, and Children's Assessment of Participation and Enjoyment questionnaires. Global positioning systems documented that the girl with cerebral palsy did not visit nearby friends, spent less time outdoors and traveled shorter distances than her sister (P = .02). Participation questionnaire corroborated that the girl with cerebral palsy performed most activities at home alone. Lower outdoor activity of the girl with cerebral palsy measured by a global positioning system was 29% to 53% of that of her sibling similar to participation questionnaires (44%). Global positioning devices objectively documented low outdoor activity in an adolescent with cerebral palsy compared to her sibling reflecting participation reported by validated questionnaires. Global positioning systems can potentially quantify certain aspects of participation.

  11. MR imaging in Bell's palsy and herpes zoster opticus: correlation with clinical findings

    Energy Technology Data Exchange (ETDEWEB)

    Kwon, Jung Ho; Mo, Jong Hyun; Moon, Sung Hee; Lee, Sang Sun; Park, Yang Hee; Lee, Kyung Hee [National Police Hospital, Seoul (Korea, Republic of); Choi, Ik Joon [Sejong General Hospital, Seoul (Korea, Republic of)

    1998-09-01

    To evaluate the MRI findings of acute facial nerve paralysis in Bell's palsy and herpes zoster opticus, and to correlate these with the clinical findings. We retrowspectively reviewed the MRI findings in six cases of BEll's palsy(BP) and two of herpes zoster oticus(HZO), and compared them with the findings for 30 normal facial nerves. This nerve was considered abnormal when its signal intensity was greater than that of brain parenchyma or the contralateral normal side on Gd-enhanced T1-weighted axial and coronal MR images. We analysed the location and degree of contrast enhancement, interval change, and clinical progression in correlation with House-Brackmann(HB) grade and electroneuronography (ENoG) findings. Fifteen of 30 normal facial nerves(50%) seen on Gd-enhanced MRI were mildly enhanced in the geniculate ganglion, the proximal tympanic, and the proximal mastoid segment of the facial nerve. No enhancement of the internal auditory canal(IAC) or labyrinthine segment of the facial nerve was noted, however. In BP and HZO, Gd-enhanced MR images revealed fair to marked enhancement for more than two segments from the internal auditory canal to the mastoid segment of the facial nerve. During follow-up MRI, enhancement of the facial nerve varied in location and signal intensity, though gradually decreased in intensity approximately eight weeks after the onset of facial nerve palsy. No correlation between clinical HB grade, ENoG, and follow up MRI findings was noted. Except in the internal auditory canal and labyrinthine segment, normal facial nevemay show mild and relatively symmetrical enhancement. In BP and HZO, the facial nerve showed diffuse enhancement from the IAC to the mastoid segment.=20.

  12. Persistence of Cerebral Palsy Diagnosis: Assessment of a Low-Birth-Weight Cohort at Ages 2, 6, and 9 Years.

    Science.gov (United States)

    Korzeniewski, Steven J; Feldman, Judith F; Lorenz, John M; Pinto-Martin, Jennifer A; Whitaker, Agnes H; Paneth, Nigel

    2016-03-01

    We examined the stability of nondisabling and disabling cerebral palsy at age 2 in a longitudinally followed tri-county low-birth-weight (cerebral palsy diagnoses at age 2, 61 (9% of the cohort, n = 61/777) had disabling cerebral palsy and 52 (7%, n = 52/777) had nondisabling cerebral palsy. Of 48 followed children diagnosed with disabling cerebral palsy at age 2, 98% were again classified as having cerebral palsy at school age, and 1 had an uncertain cerebral palsy status. By contrast, 41% (n = 17) of the 43 children diagnosed with nondisabling cerebral palsy at age 2 were classified as not having cerebral palsy. Of the 517 followed children who were not diagnosed with cerebral palsy at age 2, 7% (n = 35) were classified as having late emerging nondisabling cerebral palsy at school age.

  13. Social integration of adults with cerebral palsy

    DEFF Research Database (Denmark)

    Michelsen, Susan Ishøy; Uldall, Peter; Hansen, Thomas

    2006-01-01

    , estimated in childhood, with regard to walking ability was 65% able to walk without assistance, 22% with assistance, and 12% not able to walk (for 1% of the participants their walking ability was not known). We found no sign of increased social integration over the past two or three decades in Denmark......Social integration and independence is the ultimate goal of habilitation and social support for patients with cerebral palsy (CP). Having a partner and having children provide support for social integration of adults with or without a disability. We studied 416 participants with CP born between......, cohabiting partner, or biological children. The remaining participants had at least one of these types of social contact, but this more optimally socially integrated half of the participants only combined all three types of social contact half as often as the comparison group. This could be due to cognitive...

  14. Computed tomography in spastic cerebral palsy

    Energy Technology Data Exchange (ETDEWEB)

    Pedersen, H.; Taudorf, K.; Melchior, J.C.

    1982-09-01

    Eighty-three children with spastic cerebral palsy (CP) were examined with cranial CT. In 56 cases the CT findings were abnormal. The most frequent abnormality was atrophy, present in 44 patients. The frequency of pathologic CT increased with severity of the CP. Patients with CP of postnatal aetiology more often had abnormal CT than patients with other known causes. Pathologic CT findings were seen more often in patients with seizures than in patients without. Infarctions and hemiatrophy were much more frequent in patients with hemiplegia than in patients with other types of spastic CP. A special kind of central atrophy, called isolated atrophy around the cella media, is described. This condition was seen in 20% of cases, most often in hemi- and paraplegic patients. Early infarctions in the border areas between the vascular territories of the internal carotid and the posterior cerebral artery may be the reason for this kind of atrophy.

  15. Nutritional management of children with cerebral palsy.

    Science.gov (United States)

    Bell, K L; Samson-Fang, L

    2013-12-01

    Children with severe cerebral palsy and particularly those with oropharyngeal dysfunction are at risk of poor nutritional status. Determining the need and the mode of nutritional intervention is multifactorial and requires multiple methodologies. First-line treatment typically involves oral nutritional support for those children who are safe to consume an oral diet. Enteral tube feeding may need to be considered in children with undernutrition where poor weight gain continues despite oral nutritional support, or in those with oropharyngeal dysphagia and an unsafe swallow. Estimates for energy and protein requirements provide a starting point only, and ongoing assessment and monitoring is essential to ensure nutritional needs are being met, that complications are adequately managed and to avoid over or under feeding.

  16. The Child with Cerebral Palsy and Anaesthesia

    Directory of Open Access Journals (Sweden)

    A Rudra

    2008-01-01

    Full Text Available Cerebral palsy (CP is the result of an injury to the developing brain during the antenatal, perinatal or postnatal period. Clinical manifestation relate to the areas affected. Patients with CP often present for elective surgical proce-dures to correct various deformities. Anaesthetic concerns of anaesthesia are intraoperative hypothermia , and slow emergence. Suxamethonium does not cause hyperkalaemia in these patients, and a rapid sequence induction may be indicated. Temperature should be monitored and an effort made to keep the patient warm. Cerebral abnormalities may lead to slow awakening; the patient should remain intubated until fully awake and airway reflexes have returned. Pulmonary infection can complicate the postoperative course. Postoperative pain management and the prevention of muscle spasms are important and drugs as baclofen and botulinum toxin are discussed. Epidural analgesia is particu-larly valuable when major orthopaedic procedures are performed.

  17. Acute sciatic neuropathy: "Saturday night palsy"

    Directory of Open Access Journals (Sweden)

    Manigoda Miodrag

    2005-01-01

    Full Text Available This is a case report of 25-year old, unemployed male, admitted to hospital due to acute onset of the left foot drop, subsequent walking difficulty and numbness of the left calf and foot. Symptoms began after prolonged sleep with previous heroin abuse by sniffing. During neurological examination, mild weakness of knee flexors, moderate weakness of plantar flexors and paralysis of foot dorsiflexors, together with hypesthesia of the left calf, foot and fingers, predominantly in the innervation area of common peroneal nerve on the same side, were observed. The electrophysiologic examination revealed predominant involvement of peroneal division within the sciatic nerve, together with recorded conduction block indicating the compression as possible mechanism of nerve injury. The patient was administered corticosteroid therapy during two months, what resulted in almost complete recovery. The peculiarity of this case report is in the presence of the sciatic nerve "Saturday night palsy" with possible effect of former heroin abuse.

  18. Reduced accommodation in children with cerebral palsy.

    Science.gov (United States)

    Leat, S J

    1996-09-01

    Accommodation in 43 subjects with cerebral palsy was measured objectively using a dynamic retinoscopy technique, which has already been shown to be reliable and repeatable. The subject's ages ranged from 3 to 35 years. Of these, 42% were found to have an accommodative response pattern which was different from the normal control group for his/her age. Nearly 29% had an estimated amplitude of accommodation of 4 D or less. The presence of reduced accommodation was found to be associated with reduced visual acuity, but was not associated with cognitive or communication ability, refractive error or age. The prevalence of other ocular disorders in this group is also high. These findings have developmental and educational implications.

  19. Family adaptation to cerebral palsy in adolescents

    DEFF Research Database (Denmark)

    Guyard, Audrey; Michelsen, Susan I; Arnaud, Catherine

    2017-01-01

    not only on physical condition but also on adolescent psychological problems to improve family adaptation. Families at risk of experiencing severe distress should be targeted early and proactive caregiver interventions on the whole family should be performed. WHAT THIS PAPER ADDS: Family is a dynamic......BACKGROUND AND AIM: Factors promoting family adaptation to child's disability are poorly studied together. The aim of the study was to describe the family adaptation to disability and to identify determinants associated with using a global theoretical model. MATERIALS AND METHODS: 286 families...... of teenagers [13-17 years] with cerebral palsy (CP) from 4 European disability registers were included and visited at home. Face to face interviews were performed in order to measure parental distress, perceived impact in various dimensions of family life, family resources and stressors. Relationships were...

  20. Excess Pre-Pregnancy Weight May Slightly Raise Baby's Cerebral Palsy Risk

    Science.gov (United States)

    ... Excess Pre-Pregnancy Weight May Slightly Raise Baby's Cerebral Palsy Risk But, study found overall odds remain quite ... slight increased risk of having a baby with cerebral palsy, a new study suggests. After reviewing data from ...

  1. External anal sphincter electromyography and related clinical aspects in patients with multiple system atrophy, Parkinson's disease and progressive supranuclear palsy%帕金森病、P型多系统萎缩及进行性核上性麻痹的肛门括约肌肌电图及相关自主神经损害特点

    Institute of Scientific and Technical Information of China (English)

    王含; 崔丽英; 杜华; 李本红; 吴双; 管宇宙

    2011-01-01

    Objectives To assess the value of external anal sphincter electromyography (EASEMG) in evaluating the related autonomic dysfunction in Parkinson's disease ( PD), parkinsonism dominant multiple system atrophy (MSA-P) and progressive supranuclear palsy (PSP). Methods From the records of EAS-EMG collected in our lab (total 562 cases), 60 PD (male 41, female 19), 68 MSA-P (male 35,female 33) and 13 PSP (male 10, female 3) were included in the analysis in this study. Mean duration,polyphasic ratio and satellite potential occurrence rate were comparable among the groups. Mean duration prolongation were graded as normal ( < 10.0 ms), mild ( 10.0-11.9 ms), moderate ( 12.0-13.9 ms)and severe ( ≥ 14.0 ms). Results Among all related autonomic symptoms, the occurrence rate of constipation, urinary incontinence, urgency and frequency in patients with MSA-P(95.8% (23/24) ,94.6% (53/56) ,87.7% ( 50/57 ), 85.7% (42/49), 76.5% ( 39/51 ) ) were higher than that of PD ( 61.5%(16/26), 62.3% (33/53), 30.6% (15/49), 46.2% (24/52), 45.7% (21/46)) and PSP (75.0%(3/4) , 62.5% (5/8), 50.0% (4/8), 42.9% (3/7), 42.9% (3/7)). The abnormal rate of EAS-EMG in PD, MSA-P and PSP were 60.0%, 94.2% and 84.6%, accordingly. Mean duration ( PD ( 12.0 ± 1.6)ms, MSA-P (15.4±3.0) ms, PSP (13.8±1.8) ms), polyphasic ratio (PD 46.2% ±19.2%, MSA-P 63.9% ± 15.8%, PSP 51.5% ± 12.1% ) and satellite potential occurrence rate ( PD 9.5% ± 8.3%,MSA-P 26.5% ± 15.9%, PSP 19.2% ± 12.5% ) varied significantly different among the groups ( F =31.724, F = 17.412, x2 =45. 335, all P <0.01 ). Severe mean duration prolongation was overwhelming in MSA-P (66.2% ) , compared with mild 10.3% and moderate 23.5%. The predominant prolongation degree was moderate in PSP (61.5%, mild 7.7%, severe 30.8% ), and mild in PD (36.7%, moderate 36.7% ,severe 11.7%, normal 15.0% ). Conclusions EAS-EMG could play a role in evaluating the related autonomic dysfunctions in PD, MSA-P and PSP. The EAS-EMG impairment was severe and

  2. What consistency of food is best for children with cerebral palsy who cannot chew?

    OpenAIRE

    Croft, R D

    1992-01-01

    Video recordings were made of 67 children with cerebral palsy and 64 able bodied children eating soft boiled ('non-mashed') and mashed potato. Those children with cerebral palsy who had no speech, presumed to have poor oral motor function, took significantly longer to eat non-mashed than mashed potato. Children with cerebral palsy, especially those with no speech, were more likely to cough or choke while eating non-mashed than mashed potato. It is recommended that children with cerebral palsy...

  3. Comparison Between End-to-end Anastomosis and Buccal Mucosa Graft in Short Segment Bulbar Urethral Stricture: a Meta-analysis Study

    Directory of Open Access Journals (Sweden)

    Prahara Yuri

    2016-09-01

    Full Text Available Aim: to compare long term follow-up between end-to-end urethroplasty and bucal mucosal graft for the management of patients with short bulbar urethral stricture. Methods:we conducted a meta-analysis of cohort studies. Literature research was performed on the MEDLINE, Science Direct, and EMBASE database including studies from 1980 through 2014. The inclusion criteria were patients with short bulbar urethral strictrure (sized ≤3 cm undergoing end-to-end anastomosis (EE and buccal mucosa graft (BMG with the complication of voiding symptoms and sexual dysfunction ≥12 months. Pooled risk ratio (RRs and 95% confidence interval (CIs were calculated using Mantzel-Haenzel method, while the heterogeneity were determined through I2 value. Data analysis were done using Stata software version 10.0 (StataCorp. Results:We analyze 10 studies in this meta-analysis. Sexual dysfunction following EE and BMG were found in 24.6% (45/183 patients and 9.1% (11/122 patients, respectively (overall RR 2.54; 95% CI: 1,44-4,47; p=0.001. Voiding symptoms following EE and BMG were found in 14% (8/57 patients and 12.5% (7/56 patients, respectively (overall RR 0.77; 95% CI: 0.3–2.0; p=0.591. Furthermore, stricture recurrent following EE and BMG were 8.4% (8/107 and 30% (14/46, respectively (overall RR 0.38; 95% CI: 0.17–0.84; p=0.016. The effectiveness of EE and BMG were found to be equal as both demonstrated few complications. BMG were found to be superior than EE terms of minimal sexual dysfunction complication. On the contrary, EE were found to be superior than BMG in terms of stricture recurence following short bulbar urethral stricture surgery. Conclusion:BMG can be considered as the primary treatment rather than EE for managing short urethral stricture cases.

  4. Using multivariate diagnostics to assess the functional status of children with cerebral palsy.

    Directory of Open Access Journals (Sweden)

    Vindiuk Pavel Andreevich

    2011-09-01

    Full Text Available The considered assessment of energy supply from children with cerebral palsy. The study involved 16 children with spastic forms of cerebral palsy secondary school age. The use of testimony bagatofaktonoї rapid diagnosis in this population. It is established that the rate of functional status of children with cerebral palsy grow under the influence of physical rehabilitation.

  5. Cerebral Palsy. Fact Sheet = La Paralisis Cerebral. Hojas Informativas Sobre Discapacidades.

    Science.gov (United States)

    National Information Center for Children and Youth with Disabilities, Washington, DC.

    This fact sheet on cerebral palsy is written in both English and Spanish. First, it provides a definition of cerebral palsy and considers various causes (e.g., an insufficient amount of oxygen reaching the fetal or newborn brain). The fact sheet then offers incidence figures and explains characteristics of the three main types of cerebral palsy:…

  6. Spontaneous resolution of a Meckel's cave arachnoid cyst causing sixth cranial nerve palsy.

    Science.gov (United States)

    Jacob, Maud; Gujar, Sachin; Trobe, Jonathan; Gandhi, Dheeraj

    2008-09-01

    A 32-year-old pregnant woman developed a progressive right sixth cranial nerve palsy as an isolated finding. Brain MRI disclosed a discrete lobulated lesion centered in the right Meckel's cave with intermediate signal on T1, high signal on T2, and diffusion characteristics similar to those of cerebrospinal fluid on apparent diffusion coefficient mapping. The initial radiologic diagnosis was schwannoma or meningioma. No intervention occurred. Shortly after cesarean delivery, the abduction deficit began to lessen spontaneously. One month later, the abduction deficit had further improved; 7 months later it had completely resolved. Repeat MRI after delivery failed to disclose the lesion, which was now interpreted as consistent with an arachnoid cyst arising within Meckel's cave. Twenty-one similar cases of Meckel's cave arachnoid cyst or meningocele have been reported, 7 found incidentally and 14 causing symptoms, 2 of which produced ipsilateral sixth cranial nerve palsies. All previously reported symptomatic patients were treated surgically. This is the first report of an arachnoid cyst arising from Meckel's cave in pregnancy and having spontaneous resolution.

  7. Burkitt's non-Hodgkins lymphoma presenting as facial nerve palsy in HIV-positive patients.

    Science.gov (United States)

    Woodcock, H; Nelson, M

    2011-02-01

    An isolated facial nerve palsy is rare as the presentation of a central nervous system lymphoma. In this case series, we present the clinical features of three HIV-positive patients presenting with facial nerve palsies due to HIV-associated Burkitt's lymphoma. These patients had a non-resolving facial paralysis, which occurred during a late stage of HIV. Magnetic resonance imaging (MRI) did not show leptomeningeal enhancement. Cerebrospinal fluid revealed a lymphocytosis with elevated protein and low glucose levels. The diagnosis of Burkitt's lymphoma was made on histology which showed the characteristic 'starry sky' appearance due to scattered tangible body-laden macrophages. The patients were commenced on the intensive chemotherapy regimen of CODOX-M/IVAC. Two patients died of disease progression and the third patient died of chemotherapy toxicity. This case series highlights the need for a high index of suspicion for underlying malignancy when a patient presents with a persistent facial paralysis in the later stages of HIV infection.

  8. Hereditary Neuropathy with Liability to Pressure Palsy: A Recurrent and Bilateral Foot Drop Case Report

    Directory of Open Access Journals (Sweden)

    Filipa Flor-de-Lima

    2013-01-01

    Full Text Available Hereditary neuropathy with liability to pressure palsy is characterized by acute, painless, recurrent mononeuropathies secondary to minor trauma or compression. A 16-year-old boy had the first episode of right foot drop after minor motorcycle accident. Electromyography revealed conduction block and slowing velocity conduction of the right deep peroneal nerve at the fibular head. After motor rehabilitation, he fully recovered. Six months later he had the second episode of foot drop in the opposite site after prolonged squatting position. Electromyography revealed sensorimotor polyneuropathy of left peroneal, sural, posterior tibial, and deep peroneal nerves and also of ulnar, radial, and median nerves of both upper limbs. Histological examination revealed sensory nerve demyelination and focal thickenings of myelin fibers. The diagnosis of hereditary neuropathy with liability to pressure palsy was confirmed by PMP22 deletion of chromosome 17p11.2. He started motor rehabilitation and avoidance of stressing factors with progressive recovery. After one-year followup, he was completely asymptomatic. Recurrent bilateral foot drop history, “sausage-like” swellings of myelin in histological examination, and the results of electromyography led the authors to consider the diagnosis despite negative family history. The authors highlight this rare disease in pediatric population and the importance of high index of clinical suspicion for its diagnosis.

  9. Long-Lasting Cranial Nerve III Palsy as a Presenting Feature of Chronic Inflammatory Demyelinating Polyneuropathy

    Directory of Open Access Journals (Sweden)

    Rossella Spataro

    2015-01-01

    Full Text Available We describe a patient with chronic inflammatory demyelinating polyneuropathy (CIDP in which an adduction deficit and ptosis in the left eye presented several years before the polyneuropathy. A 52-year-old man presented with a 14-year history of unremitting diplopia, adduction deficit, and ptosis in the left eye. At the age of 45 a mild bilateral foot drop and impaired sensation in the four limbs appeared, with these symptoms showing a progressive course. The diagnostic workup included EMG/ENG which demonstrated reduced conduction velocity with bilateral and symmetrical sensory and motor involvement. Cerebrospinal fluid studies revealed a cytoalbuminologic dissociation. A prolonged treatment with corticosteroids allowed a significant improvement of the limb weakness. Diplopia and ptosis remained unchanged. This unusual form of CIDP presented as a long-lasting isolated cranial nerve palsy. A diagnostic workup for CIDP should therefore be performed in those patients in which an isolated and unremitting cranial nerve palsy cannot be explained by common causes.

  10. A guide to the evaluation of fourth cranial nerve palsies.

    Science.gov (United States)

    Lee; Hayman; Beaver; Prager; Kelder; Scasta; Avilla; von Noorden GK; Tang

    1998-12-01

    PURPOSE To devise a cost-effective guide for the evaluation of fourth nerve palsies (FNP). METHODS A review of the pertinent English language literature was performed to devise a guide for the evaluation (including neuroimaging) of FNP. The authors report a retrospective review of imaging studies performed on 206 patients with FNP. RESULTS The literature was used to develop the imaging guide. In the retrospective chart review of 206 patients from two tertiary care centers, 28 patients (13.6%) underwent a computed tomography scan and/or a magnetic resonance scan. Of these patients, five had associated neurological symptoms (non-isolated), one was traumatic, five were congenital, four were vasculopathic, eleven were non-vasculopathic, and two were progressive. Following the recommendations of the imaging guide, the five isolated congenital FNP and the four isolated vasculopathic FNP would not have undergone neuroimaging studies. The total costs of these neuroimaging studies in these nine patients were 19,000 dollars. Four patients in the retrospective review with associated neurological deficits (non-isolated) should have undergone neuroimaging according to the guide, but did not. CONCLUSIONS Although the evaluation of FNP can be difficult, the decision to order neuroimaging can be improved by using an imaging guide. An imaging guide for the evaluation of FNP may allow more appropriate and cost-effective imaging of these patients. Isolated congenital, old traumatic, or vasculopathic FNP do not require neuroimaging studies. Patients with non-isolated FNP should have directed neuroimaging studies based upon the results of clinical examination.

  11. Immature spinal locomotor output in children with Cerebral Palsy

    Directory of Open Access Journals (Sweden)

    Germana Cappellini

    2016-10-01

    Full Text Available Detailed descriptions of gait impairments have been reported in cerebral palsy (CP, but it is still unclear how maturation of the spinal motoneuron output is affected. Spatiotemporal alpha-motoneuron activation during walking can be assessed by mapping the electromyographic activity profiles from several, simultaneously recorded muscles onto the anatomical rostrocaudal location of the motoneuron pools in the spinal cord, and by means of factor analysis of the muscle activity profiles. Here, we analysed gait kinematics and EMG activity of 11 pairs of bilateral muscles with lumbosacral innervation in 35 children with CP (19 diplegic, 16 hemiplegic, 2-12 years and 33 typically developing (TD children (1-12 years. TD children showed a progressive reduction of EMG burst durations and a gradual reorganization of the spatiotemporal motoneuron output with increasing age. By contrast, children with CP showed very limited age-related changes of EMG durations and motoneuron output, as well as of limb intersegmental coordination and foot trajectory control (on both sides for diplegic children and the affected side for hemiplegic children. Factorization of the EMG signals revealed a comparable structure of the motor output in children with CP and TD children, but significantly wider temporal activation patterns in children with CP, resembling the patterns of much younger TD infants. A similar picture emerged when considering the spatiotemporal maps of alpha-motoneuron activation. Overall, the results are consistent with the idea that early injuries to developing motor regions of the brain substantially affect the maturation of the spinal locomotor output and consequently the future locomotor behaviour.

  12. Neuroimaging in Cerebral Palsy – Report from North India

    Directory of Open Access Journals (Sweden)

    Anju AGGARWAL

    2013-11-01

    Full Text Available How to Cite This Article: Aggarwal A, Mittal H, Debnath SKR, Rai A. Neuroimaging in Cerebral Palsy–Report from North India. Iran J Child Neurol. 2013 Autumn; 7(3:41- 46. ObjectiveOnly few Indian reports exist on neuroimaging abnormalities in children with cerebral palsy (CP from India. Materials & MethodsWe studied the clinico-radiological profile of 98 children diagnosed as CP at a tertiary centre in North India. Relevant investigations were carried out to determine the etiology. ResultsAmong the 98 children studied, 80.5% were males and 22.2% were premature. History of birth asphyxia was present in 41.9%. Quadriplegic CP was seen in 77.5%, hemiplegic in 11.5%, and diplegic in 10.5%. Other abnormalities were microcephaly (60.5%, epilepsy (42%, visual abnormality (37%, and hearing abnormality (20%. Neuroimaging was abnormal in 94/98 (95.91%.Abnormalities were periventricular white matter abnormalities (34%, deep grey matter abnormalities (47.8%, malformations (11.7%, and miscellaneous lesions (6.4%. Neuroimaging findings did not relate to the presence of birth asphyxia, sex, epilepsy, gestation, type of CP, or microcephaly. ConclusionsNeuroimaging is helpful for etiological diagnosis, especially malformations.  ReferencesSinghi PD, Ray M, Suri G. Clinical spectrum of cerebral palsy in north India-an analysis of 1000 cases. J Trop Pediatr 2002 48(3; 162-6.Sharma P, Sharma U, Kabra A. Cerebral Palsy-Clinical Profile and Predisposing Factors. Indian Pediatr 1999;36(10:1038-42.Nelson KB, Ellenberg JH. Antecedents of cerebral palsy. Multivariate analysis of risk. N Engl J Med 1986 315(2:81-6.Krägeloh-Mann I, Horber V. The role of magnetic resonance imaging in elucidating the pathogenesis of cerebral palsy: a systematic review. Dev Med Child Neurol 2007; 49(2:144-51.Rosenbaum P, Paneth N, Leviton A, Goldstein M, Bax M, Damiano D, et al. A report: the definition and classification of cerebral palsy April 2006. Dev Med Child Neurol Suppl 2007

  13. Facial Dystonia with Facial Grimacing and Vertical Gaze Palsy with "Round the Houses" Sign in a 29-Year-Old Woman.

    Science.gov (United States)

    Crespi, J; Bråthen, G; Quist-Paulsen, P; Pagonabarraga, J; Roig-Arnall, C

    2016-02-01

    A 29-year-old woman developed progressive dysarthria and coordination problems from the age of 15. Examination showed dysarthria, facial dystonia, bibrachial dystonia, hyperreflexia, ataxia, and emotional incontinence. Downward supranuclear gaze palsy was prominent with a "Round the Houses" sign. Magnetic resonance imaging of the brain and medulla, electroneurography, and cerebrospinal fluid were normal. A computed tomography scan showed hepatosplenomegaly. This combination of progressive neurological symptoms together with hepatosplenomegaly was suggestive of inborn error of metabolism. A bone marrow biopsy showed an increased number of macrophages with foamy content, highly suggestive of lysosomal disease. Plasmatic chitotriosidase activity and CCL18 were increased. Genetic testing showed heterozygosis for the variation c.1070C→T (p.Ser357Leu) and c.1843→T (Arg615Cys), confirming the diagnosis of Niemann-Pick type C (NPC). The "Round the Houses" sign has only been described in patients with progressive supranuclear palsy (PSP). This sign is described as an inability to produce pure vertical saccades along the midline and instead moving the eyes in a lateral arc to accomplish the movement. The observation of this sign in a patient with NPC indicates that this bedside finding is not specific for PSP, but a sign of medial longitudinal fasciculus dysfunction. The presence of facial dystonia with facial grimacing together with supranuclear gaze palsy is highly characteristic and useful for the diagnosis of NPC. NPC is an important underdiagnosed condition, given the availability of treatment and a mean diagnostic delay of 6 years.

  14. CT findings of cerebral palsy and behaviour development

    Energy Technology Data Exchange (ETDEWEB)

    Sakamoto, Zenji

    1987-06-01

    It is well recognized that CT scan is very useful in the early diagnosis of cerebral palsy. The author has studied this time the CT scan findings of cerebral palsy children in their relations to the type of palsy, cause of palsy, complications in the central nervous system, and prognosis of behaviour development, in order to predict the prognosis of behaviour development. Dilatation of the contralateral cerebral ventricle was found in 82 % of hemiplegic type. Abnormal EEG was found in 73 %, but their behaviour development was satisfactory, with good development of speech regardless to the side of palsy. This might be helped by compensational function of the brain due to plasticity. Diplegia presented bilateral moderate dilatation of ventricles with favorable prognosis. Tetraplegia was caused mostly by asphyxia or congenital anomaly and revealed marked dilatation of ventricles or severe cortical atrophy. Some cases presented diffuse cortical low-density, often associated with abnormal EEG, and their prognosis was worst. Athetosis had normal CT finding or mild ventricular dilatation, but all cases of ataxia presented normal CT findings. Hypotonia had mild ventricular dilatation. Two of three mixed type cases had normal CT findings and another had mild ventricular dilatation. No correlation was found between ventricular dilatation and behaviour development, but statistically significant difference was found in the cases with 30 % or more Evans' ratio (P < 0.05). Prognosis of severe ventricular dilatation cases was poor.

  15. The Role of Information Systems to Manage Cerebral Palsy

    Science.gov (United States)

    AJAMI, Sima; MAGHSOUDLORAD, Ali Akbar

    2016-01-01

    Objective In healthcare system, it is necessary to have exact and accurate information in order to address health care needs and requirements of society members as well as expectations of policy makers, planners and decision makers. The aim of this narrative review article was to explain the role of information systems in cerebral palsy management and identify the advantages and barriers to the development of cerebral palsy registry system. Data were collected using databases such as of Science Direct, PubMed, Proquest, Springer, and SID (Scientific Information Database). Overall, 65 sources were selected. One of the biggest challenges for children with physical and motor disabilities in rehabilitation center is access to a system, which provides a comprehensive data set reflecting all information on a patient’s care. Thus, data and information management in children with physical and motor disability such as cerebral palsy facilitates access to data and cerebral palsy data comparison as well as the monitoring incidence rate of cerebral palsy, enhancing health care quality; however, there are always numerous barriers to establish the system. One of the ways to overcome these problems is the establishment of a standard framework of minimum data sets and exact definition of its data components. Reliable standards in the use of applications as well as user-friendly software will ensure patients’ data extraction and registration. PMID:27247578

  16. Facial nerve palsy: Evaluation by contrast-enhanced MR imaging

    Energy Technology Data Exchange (ETDEWEB)

    Kinoshita, T.; Ishii, K.; Okitsu, T.; Okudera, T.; Ogawa, T

    2001-11-01

    AIM: The purpose of this study was to investigate the value of contrast-enhanced magnetic resonance (MR) imaging in patients with peripheral facial nerve palsy. MATERIALS AND METHODS: MR imaging was performed in 147 patients with facial nerve palsy, using a 1.0 T unit. All of 147 patients were evaluated by contrast-enhanced MR imaging and the pattern of enhancement was compared with that in 300 control subjects evaluated for suspected acoustic neurinoma. RESULTS: The intrameatal and labyrinthine segments of the normal facial nerve did not show enhancement, whereas enhancement of the distal intrameatal segment and the labyrinthine segment was respectively found in 67% and 43% of patients with Bell's palsy. The geniculate ganglion or the tympanic-mastoid segment was enhanced in 21% of normal controls versus 91% of patients with Bell's palsy. Abnormal enhancement of the non-paralyzed facial nerve was found in a patient with bilateral temporal bone fracture. CONCLUSION: Enhancement of the distal intrameatal and labyrinthine segments is specific for facial nerve palsy. Contrast-enhanced MR imaging can reveal inflammatory facial nerve lesions and traumatic nerve injury, including clinically silent damage in trauma. Kinoshita T. et al. (2001)

  17. Speech therapy in peripheral facial palsy: an orofacial myofunctional approach

    Directory of Open Access Journals (Sweden)

    Hipólito Virgílio Magalhães Júnior

    2009-12-01

    Full Text Available Objective: To delineate the contributions of speech therapy in the rehabilitation of peripheral facial palsy, describing the role of orofacial myofunctional approach in this process. Methods: A literature review of published articles since 1995, held from March to December 2008, based on the characterization of peripheral facial palsy and its relation with speechlanguage disorders related to orofacial disorders in mobility, speech and chewing, among others. The review prioritized scientific journal articles and specific chapters from the studied period. As inclusion criteria, the literature should contain data on peripheral facial palsy, quotes on the changes in the stomatognathic system and on orofacial miofunctional approach. We excluded studies that addressed central paralysis, congenital palsy and those of non idiopathic causes. Results: The literature has addressed the contribution of speech therapy in the rehabilitation of facial symmetry, with improvement in the retention of liquids and soft foods during chewing and swallowing. The orofacial myofunctional approach contextualized the role of speech therapy in the improvement of the coordination of speech articulation and in the gain of oral control during chewing and swallowing Conclusion: Speech therapy in peripheral facial palsy contributed and was outlined by applying the orofacial myofunctional approach in the reestablishment of facial symmetry, from the work directed to the functions of the stomatognathic system, including oralfacial exercises and training of chewing in association with the training of the joint. There is a need for a greater number of publications in this specific area for speech therapy professional.

  18. Sleep disorders in children with cerebral palsy: An integrative review.

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    Lélis, Ana Luíza P A; Cardoso, Maria Vera L M; Hall, Wendy A

    2016-12-01

    Sleep disorders are more prevalent in children with cerebral palsy. The review aimed to identify and synthesize information about the nature of sleep disorders and their related factors in children with cerebral palsy. We performed an electronic search by using the search terms sleep/child*, and sleep/cerebral palsy in the following databases: Latin American literature on health sciences, SCOPUS, medical publications, cumulative index to nursing and allied health literature, psycinfo, worldcat, web of science, and the Cochrane library. The selection criteria were studies: available in Portuguese, English or Spanish and published between 2004 and 2014, with results addressing sleep disorders in children (ages 0-18 y) with a diagnosis of cerebral palsy. 36,361 abstracts were identified. Of those, 37 papers were selected, and 25 excluded. Twelve papers were incorporated in the study sample: eight quantitative studies, three reviews, and one case study. Eleven types of sleep disorders were identified, such as difficult morning awakening, insomnia, nightmares, difficulties in initiating and maintaining nighttime sleep (night waking), and sleep anxiety. Twenty-one factors were linked to sleep disorders, which we classified as intrinsic factors associated with common comorbidities accompanying cerebral palsy, and extrinsic aspects, specifically environmental and socio-familial variables, and clinical-surgical and pharmacological interventions.

  19. Laser Phototherapy As Modality of Clinical Treatment in Bell's Palsy

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    Marques, A. M. C.; Soares, L. G. P.; Marques, R. C.; Pinheiro, A. L. B.; Dent, M.

    2011-08-01

    Bell's palsy is defined as a peripheral facial nerve palsy, idiophatic, and sudden onset and is considered the most common cause of this pathology. It is caused by damage to cranial nerves VII, resulting in complete or partial paralysis of the facial mimic. May be associated with taste disturbances, salivation, tearing and hyperacusis. It is diagnosed after ruling out all possible etiologies, because its cause is not fully understood.Some researches shows that herpes virus may cause this type of palsy due to reactivation of the virus or by imunnomediated post-viral nerve demielinization. Physical therapy, corticosteroids and antiviral therapy have become the most widely accepted treatments for Bell's palsy. Therapy with low-level laser (LLLT) may induce the metabolism of injured nerve tissue for the production of proteins associated with its growth and to improve nerve regeneration. The success of the treatment of Bell's palsy by using laser phototherapy isolated or in association with other therapeutic approach has been reported on the literature. In most cases, the recovery occurs without uneventfully (complications), the acute illness is not associated with serious disorders. We will present a clinical approach for treating this condition.

  20. EVALUATION OF NEUROIMAGING IN CEREBRAL PALSY

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    S.H. Hasanpour avanji

    2008-11-01

    Full Text Available ObjectiveCerebral palsy (CP, a common static motor neurological disorder of childhood with wide spectrum of underlying etiologies, can be demonstrated with different neuro imaging techniques. We undertook this study to investigate the diagnosis of intracranial lesions in children with CP and its correlation between clinical deficits and neuroradiological findings.Materials and methodsIn this prospective hospital-based study, the data of 120 patients with CP, aged below 18 years, referring to the neurology clinic of the Ali Asghar Pediatric hospital in Tehran was studied; data on their cranial neuroimaging findings was analyzed any possible association(s between the gestational ages, prenatal history and neurological deficits were investigated.ResultsOf the 120 patients, 72 (60% were male; 75% were aged below 7 years.Common predisposing factors were prenatal asphyxia, LBW, prematurity and toxemia of pregnancy. Of the 120 cases, 90%(107 had spastic CP, with the quadriplegic type being the most common (54%, followed by spastic paraplegia (21%; twenty-four patients (20% had significant Preventricular Leucomalacia (PVL, a finding more common among those born pre-term.Sixteen patients had hemiplegic CP, 14 of whom showed unilateral lesions on brain MRI imaging. Ten (8% had extra pyramidal CP, a condition more common among term born infants, while six of the 10(72% showed significant abnormalities on the basal ganglia. Cerebral atrophy was seen in 60 (50% of patients and PVL in 20%; encephalomalacia, gliosis, middle cerebral artery infarcts, PVL and gliosis indicated hypoxia as a risk factor for CP. Extent of MRI lesions correlated with the severity of neurological deficits in CP lesions, which were more extensive in Quadriplegics and double hemiplegics rather than paraplegics, and among those delivered preterm as compared to those born at term.ConclusionRadiological findings were found to be closely related to the type of CP and the neurological

  1. Computed tomographic (CT) scans in cerebral palsy (CP)

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    Kolawole, T.M.; Patel, P.J. (King Saud Univ., Riyadh (Saudi Arabia). Dept. of Radiology); Mahdi, A.H. (King Saud Univ., Riyadh (Saudi Arabia). Dept. of Paediatrics)

    1989-11-01

    The CT findings in 120 cerebral palsied children are analysed. The 72.5% positive findings are correlated with the clinical types, as well as the aetiological basis for the cerebral palsy. The spastic type, 83.3% of the total number of children, had the highest positive findings. The yield was increased in children with seizures (91.3%) and those in the postnatal group (90%), as well as those with birth trauma and neonatal asphyxia (94%). The findings were those of atrophy in 30.8%, hydrocephalus, in 10%, infarct in 11.6%, porencephaly in 8.3% and others. The atropic changes and their patterns are explained. Treatable lesions, such as tumour, hydrocephalus, subdural haematoma, porencephaly and hygroma were identified in 22.5% of cases. It is concluded that CT scan is definitely efficacious in the management of cerebral palsied children. (orig.).

  2. Facial electroneurography on the contralateral side in unilateral Bell's palsy.

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    Psillas, G; Daniilidis, J

    2002-07-01

    In this study, ten patients who exhibited severe unilateral Bell's palsy of the House-Brackmann grade V underwent facial electroneurography (ENoG) on the contralateral, healthy side. Serial ENoG was conducted in seven consecutive sessions within 6 months at a given current intensity level of stimulation. According to our results, all the patients presented a rise in the maximum compound-action potential (MCAP) amplitude on the healthy side within 20 to 45 days from the onset of the palsy and shortly after the onset of the recovery of the facial function. This was attributed to the central contralateral compensatory process, which restores balanced facial function. Based on our data, a hypothetical model is shown, which demonstrates the clinical course of the contralateral MCAP values and reflects the plasticity effect of the central nervous system after the onset of Bell's palsy.

  3. An Infant with Benign Isolated Abducens Palsy After Vaccination

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    Celebi Kocaoglu

    2014-02-01

    Full Text Available Benign isolated abducens palsy is a self-improving clinical entity characterized by esotropia and diplopia led by the deficiency of abduction, and accompanied by no other neurological findings. The entity may occur after experiencing minor fever episodes, viral infection. The pathophysiological mechanism of cellular injury remains unclear. Hypotheses involve damage arising from autoimmune mediation or direct viral invasion causing demyelination, localized arteritis or genetic predisposition, which could increase susceptibility to such nerve palsies. Diagnosed with benign isolated abducens palsy, a 19-month-old girl infant admitted to our outpatient clinic with an acute onset of esotropia in the right eye developing two weeks after the vaccination of diphtheria, acellular pertussis, tetanus, inactivated polio and Haemophilus influenzae type b (DTPa-IP-Hib was presented in this report.

  4. Phrenic Nerve Palsy as Initial Presentation of Large Retrosternal Goitre.

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    Hakeem, Arsheed Hussain; Hakeem, Imtiyaz Hussain; Wani, Fozia Jeelani

    2016-12-01

    Unilateral phrenic nerve palsy as initial presentation of the retrosternal goitre is extremely rare event. This is a case report of a 57-year-old woman with history of cough and breathlessness of 3 months duration, unaware of the thyroid mass. She had large cervico-mediastinal goiter and chest radiograph revealed raised left sided hemidiaphragm. Chest CT scan did not reveal any lung parenchymal or mediastinal pathology. The patient underwent a total thyroidectomy through a cervical approach. The final pathology was in favor of multinodular goitre. Even after 1 year of follow up, phrenic nerve palsy did not improve indicating permanent damage. Phrenic nerve palsy as initial presentation of the retrosternal goitre is unusual event. This case is reported not only because of the rare nature of presentation, but also to make clinicians aware of the entity so that early intervention may prevent attendant morbidity.

  5. Rehabilitation outcomes of children with cerebral palsy.

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    Yalcinkaya, Ebru Yilmaz; Caglar, Nil Sayıner; Tugcu, Betul; Tonbaklar, Aysegul

    2014-02-01

    [Purpose] To evaluate the results of Bobath-based rehabilitation performed at a pediatric cerebral palsy (CP) inpatient clinic. [Subjects and Methods] The study subjects were 28 children with CP who were inpatients at a pediatric service. Inclusion criteria were: being an inpatient of our hospital aged 2-12 with a diagnosis of CP; having one permanent primary caregiver; and the caregiver having no medical or psychotic problems. All of the patients received Bobath treatment for 1 hour per day, 5 days a week. The locomotor system, neurologic and orthopedic examination, Gross Motor Function Measure (GMFM) of the patients, and Short Form-36 (SF-36) of permanent caregivers were evaluated at the time of admission to hospital, discharge from hospital, and at 1 and 3 months after discharge. [Results] Post-admission scores of GMFM at discharge, and 1 and 3 months later showed significant increase. Social function and emotional role subscores of SF-36 had increased significantly at discharge. [Conclusion] Bobath treatment is promising and randomized controlled further studies are needed for rehabilitation technics.

  6. Cerebral palsy: definition, assessment and rehabilitation.

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    Richards, Carol L; Malouin, Francine

    2013-01-01

    Over the last 25 years the definition and classification of cerebral palsy (CP) have evolved, as well as the approach to rehabilitation. CP is a disorder of the development of movement and posture, causing activity limitations attributed to nonprogressive disturbances of the fetal or infant brain that may also affect sensation, perception, cognition, communication, and behavior. Motor control during reaching, grasping, and walking are disturbed by spasticity, dyskinesia, hyperreflexia, excessive coactivation of antagonist muscles, retained developmental reactions, and secondary musculoskeletal malformations, together with paresis and defective programing. Weakness and hypoextensibility of the muscles are due not only to inadequate recruitment of motor units, but also to changes in mechanical stresses and hormonal factors. Two methods, the General Movements Assessment and the Test of Infant Motor Performance, now permit the early detection of CP, while the development of valid and reliable outcome measures, particularly the Gross Motor Function Measure (GMFM), have made it possible to evaluate change over time and the effects of clinical interventions. The GMFM has further led to the development of predictive curves of motor function while the Gross Motor Classification System and the Manual Ability Classification System provide standardized means to classify the severity of the movement disability. With the emergence of the task-oriented approach, the focus of therapy in rehabilitation has shifted from eliminating deficits to enhancing function across all performance domains by emphasizing fitness, function, participation, and quality of life. There is growing evidence supporting selected interventions and interest for the therapy and social integration of adults with CP.

  7. X-linked spinal and bulbar muscular atrophy (Kennedy's disease with long-term electrophysiological evaluation: case report Atrofia muscular bulbo-espinal ligada ao cromossomo X (doença de Kennedy com seguimento eletrofisiológico de longo prazo: relato de caso

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    João Aris Kouyoumdjian

    2005-03-01

    Full Text Available X-linked spinal and bulbar muscular atrophy or Kennedy's disease is an adult-onset motor neuronopathy caused by a CAG repeat expansion within the first exon of an androgen receptor gene. We report the case of a 66-year-old man, previously diagnosed with motor neuron disease (MND, who presented acute and reversible left vocal fold (dysphonia and pharyngeal paresis, followed by a slowly progressive weakness and also bouts of weakness, wasting and fasciculation on tongue, masseter, face, pharyngeal, and some proximal more than distal upper limb muscles, associated to bilateral hand tremor and mild gynecomastia. There were 5 electroneuromyography exams between 1989 and 2003 that revealed chronic reinnervation, some fasciculations (less than clinically observed and rare fibrillation potentials, and slowly progressive sensory nerve action potentials (SNAP abnormality, leading to absent/low amplitude potentials. PCR techniques of DNA analysis showed an abnormal number of CAG repeats, found to be 44 (normal 11-34. Our case revealed an acute and asymmetric clinical presentation related to bulbar motoneurons; low amplitude/absent SNAP with mild asymmetry; a sub-clinical or subtle involvement of proximal/distal muscles of both upper and lower limbs; and a probable evolution with bouts of acute dennervation, followed by an efficient reinnervation.Atrofia muscular bulbo-espinal ligada ao cromossomo X (doença de Kennedy é uma neuronopatia motora em adultos causada por expansões na repetição CAG no gene do receptor andrógeno. Neste relato, descreve-se o caso de homem de 66 anos, com diagnóstico prévio de doença do neurônio motor (DNM que apresentou quadro agudo e reversível de paresia de prega vocal (disfonia e de músculos faríngeos à esquerda; posteriormente seguiram-se surtos de fraqueza lentamente progressiva, atrofia e fasciculações em língua, masseter, face, faringe e membros superiores predominantemente proximal, associada a tremor

  8. Mirror movements in progressive hemifacial atrophy

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    Rajesh Verma

    2015-01-01

    Full Text Available Mirror movements are simultaneous, involuntary, identical movements occurring during contralateral voluntary movements. These movements are considered as soft neurologic signs seen uncommonly in clinical practice. The mirror movements are described in various neurological disorders which include parkinsonism, cranio veretebral junction anamolies, and hemiplegic cerebral palsy. These movements are intriguing and can pose significant disability. However, no such observation regarding mirror movements in progressive hemifacial atrophy have been reported previously. We are reporting a teenage girl suffering from progressive hemifacial atrophy and epilepsy with demonstrable mirror movements in hand.

  9. Mirror movements in progressive hemifacial atrophy

    Science.gov (United States)

    Verma, Rajesh; Dixit, Puneet Kumar; Lalla, Rakesh; Singh, Babita

    2015-01-01

    Mirror movements are simultaneous, involuntary, identical movements occurring during contralateral voluntary movements. These movements are considered as soft neurologic signs seen uncommonly in clinical practice. The mirror movements are described in various neurological disorders which include parkinsonism, cranio veretebral junction anamolies, and hemiplegic cerebral palsy. These movements are intriguing and can pose significant disability. However, no such observation regarding mirror movements in progressive hemifacial atrophy have been reported previously. We are reporting a teenage girl suffering from progressive hemifacial atrophy and epilepsy with demonstrable mirror movements in hand. PMID:26019431

  10. Treatment of Cerebral Palsy with Stem Cells: A Report of 17 Cases

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    Abi Chahine, Nassim H.; Wehbe, Tarek W.; Hilal, Ramzi A.; Zoghbi, Victoria V.; Melki, Alia E.; Bou Habib, Emil B.

    2016-01-01

    Cerebral Palsy (CP) is a disabling condition that affects a child’s life and his/her family irreversibly. It is usually a non-progressive condition but improvement over time is rarely seen. The condition can be due to prenatal hypoxia, metabolic, genetic, infectious, traumatic or other causes. It is therefore a heterogeneous group that results in functional motor disability associated with different degrees of cognitive abnormalities. There are no treatments that can cure or even improve CP and the best available approach aims at functional, social and nutritional supportive care and counseling. In this paper, we report 17 sequential patients with CP treated with intrathecal administration of Bone Marrow Mononuclear Cells (BMMC). All patients had an uneventful post-injection course with 73% of the evaluable patients treated having a good response using the Gross Motor Function Classification System (GMFCS). The average improvement was 1.3 levels on the GMFCS with cognitive improvements as well. PMID:27426090

  11. Erb's palsy after delivery by Cesarean section. (A medico-legal key to a vexing problem.).

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    Iffy, Leslie; Pantages, Pamela

    2005-12-01

    Despite impressive progress in perinatology, fetal injuries from arrest of the shoulders at birth have not decreased in recent decades. Based upon sporadic reports of Erb's palsy in neonates born by Cesarean section, some obstetricians embraced the theory recently that brachial plexus lesions often derive from spontaneous forces acting in utero. Having reviewed three hundred malpractice claims involving fetal injuries attributed to shoulder dystocia at birth, the authors found only two cases connected with abdominal deliveries. One followed manual replacement of the already delivered fetal head into the pelvis after sequential vacuum and forceps procedures and failed manual extraction of the body. The other was an elective repeat Cesarean section where extensive adhesions limited the available space for the lower segment transverse uterine incision. Coincidental fracture of the clavicle and absence of contractures or deformities indicated that the brachial plexus injury was acute, having resulted from forceful traction at delivery.

  12. Post-Traumatic Isolated Bilateral Sixth Nerve Palsy

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    Jain

    2016-03-01

    Full Text Available Introduction Here we discussed an unusual case of head injury with bilateral sixth nerve palsy without any other neurological deficit. A 40-year-old male was admitted with double vision after an episode of head injury. Case Presentation On examination bilateral lateral rectus palsy was present. No other positive finding recorded in general physical, neurological and ophthalmological examinations. Conclusions Bilaterality of the abducent nerve paralysis is uncommon. It is usually associated with major head injury with brain stem injury and associated neurological findings.

  13. Feeding method and health outcomes of children with cerebral palsy.

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    Rogers, Brian

    2004-08-01

    Disorders of feeding and swallowing are common in children with cerebral palsy. Feeding and swallowing disorders have significant implications for development, growth and nutrition, respiratory health, gastrointestinal function, parent-child interaction, and overall family life. Assessments need to be comprehensive in scope and centered around the medical home. Oral feeding interventions for children with cerebral palsy may be effective in promoting oral motor function, but have not been shown to be effective in promoting feeding efficiency or weight gain. Feeding gastrostomy tubes are a reasonable alternative for children with severe feeding and swallowing problems who have had poor weight gain.

  14. Sneddon syndrome presenting with unilateral third cranial nerve palsy.

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    Jiménez-Gallo, David; Albarrán-Planelles, Cristina; Linares-Barrios, Mario; González-Fernández, Julio A; Espinosa-Rosso, Raúl; Báez-Perea, José M

    2014-03-01

    Sneddon syndrome is a rare systemic vasculopathy affecting the skin as livedo racemosa and the central nervous system as stroke. A 31-year-old man with a history of livedo racemosa presented with a partial left third nerve palsy. Skin biopsy showed signs of endotheliitis with obliteration of dermal blood vessels due to intimal proliferation and fibrin thrombi consistent with Sneddon syndrome. The patient was treated with platelet antiaggregant therapy with complete resolution of his third nerve palsy. Clinicians should be aware of Sneddon syndrome because prompt diagnosis and treatment may prevent potential morbidity and mortality.

  15. When is facial paralysis Bell palsy? Current diagnosis and treatment.

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    Ahmed, Anwar

    2005-05-01

    Bell palsy is largely a diagnosis of exclusion, but certain features in the history and physical examination help distinguish it from facial paralysis due to other conditions: eg, abrupt onset with complete, unilateral facial weakness at 24 to 72 hours, and, on the affected side, numbness or pain around the ear, a reduction in taste, and hypersensitivity to sounds. Corticosteroids and antivirals given within 10 days of onset have been shown to help. But Bell palsy resolves spontaneously without treatment in most patients within 6 months.

  16. [Treatment of idiopathic peripheral facial nerve paralysis (Bell's palsy)].

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    Meyer, Martin Willy; Hahn, Christoffer Holst

    2013-01-28

    Bell's palsy is defined as an idiopathic peripheral facial nerve paralysis of sudden onset. It affects 11-40 persons per 100,000 per annum. Many patients recover without intervention; however, up to 30% have poor recovery of facial muscle control and experience facial disfigurement. The aim of this study was to make an overview of which pharmacological treatments have been used to improve outcomes. The available evidence from randomized controlled trials shows significant benefit from treating Bell's palsy with corticosteroids but shows no benefit from antivirals.

  17. Does the risk of cerebral palsy increase or decrease with increasing gestational age?

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    Murphy-Kaulbeck Lynn

    2003-12-01

    Full Text Available Abstract Background It is generally accepted that the risk of cerebral palsy decreases with increasing gestational age of live born infants. However, recent studies have shown that cerebral palsy often has prenatal antecedents including congenital malformations, vascular insults and maternal infection. Cerebral palsy is therefore better viewed as occurring among fetuses, rather than among infants. We explored the epidemiologic implications of this change in perspective. Methods We used recently published data from Shiga Prefecture, Japan and from North-East England to examine the pattern of gestational age-specific rates of cerebral palsy under these alternative perspectives. We first calculated gestational age-specific rates of cerebral palsy as per convention, by dividing the number of cases of cerebral palsy identified among live births within any gestational age category by the number of live births in that gestational age category. Under the alternative formulation, we calculated gestational age-specific rates of cerebral palsy by dividing the number of cases of cerebral palsy identified among live births within any gestational age category by the number of fetuses who were at risk of being born at that gestation and being afflicted with cerebral palsy. Results Under the conventional formulation, cerebral palsy rates decreased with increasing gestational age from 63.9 per 1,000 live births at Conclusions The fetuses-at-risk approach is the appropriate epidemiologic formulation for calculating the gestational age-specific rate of cerebral palsy from a causal perspective. It shows that the risk of cerebral palsy increases as gestational duration increases. This compelling view of cerebral palsy risk may help refocus research aimed at understanding and preventing cerebral palsy.

  18. Two Cases of Elderly-Onset Hereditary Neuropathy with Liability to Pressure Palsy Manifesting Bilateral Peroneal Nerve Palsies

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    Norihiko Kawaguchi

    2012-10-01

    Full Text Available Hereditary neuropathy with liability to pressure palsy (HNPP is characterized by recurrent focal neuropathies, which usually become symptomatic in the second or third decade of life. However, clinical phenotypic heterogeneity among patients with HNPP has recently been reported. Certain patients show polyneuropathy-type diffuse nerve injuries, whereas others remain asymptomatic at older ages. We present two cases of elderly-onset bilateral peroneal nerve palsies with diffuse muscle weakness in the lower limbs and glove-and-stocking type sensory disturbance. Both patients were diagnosed with HNPP by genetic analyses that detected deletions of chromosome 17p11.2 in peripheral myelin protein 22 genes. Their clinical courses suggested that the Japanese sitting style termed ‘seiza’, a way of sitting on the floor with the lower legs crossed under the thighs, was a precipitating factor for the bilateral peroneal nerve palsies.

  19. Narrative ability in children with cerebral palsy.

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    Holck, Pernille; Dahlgren Sandberg, Annika; Nettelbladt, Ulrika

    2011-01-01

    In a previous study a group of children with cerebral palsy (CP) were found to have considerable difficulties with narratives, performing several standard deviations below the criteria for the Information score of the Bus Story Test (BST). To examine in depth the performance of children with CP and a control group with typically developing (TD) children on a narrative task, in order to search for possible underlying causes to the problems in the CP group. The results of the BST for 10 children with CP, mean age 7;11 years, were investigated. The analysis of the BST was supplemented with the use of the Narrative Assessment Profile (NAP) and quantitative analyses of number of words, mazes, propositions, types of conjunctions and story elements. A significant relationship between the explicitness dimension on the Narrative Assessment Profile and the BST Information score in the CP group suggested that the problems could be derived to a limited use of cohesion and a scarcity of essential information. Compared to the CP group, the TD group used significantly more causal conjunctions. The results indicate a general problem with cohesion at the textual level in the CP group. A further finding was the occurrence of a positive correlation between the use of mazes and the BST Information score in the CP group. These results have implications for the design of a more specific intervention for children, where the NAP was found to be a valuable tool in combination with the BST or other assessment materials. Further, it is shown that mazes, mostly regarded as a behaviour that not enhances speech production, for some children can be used as a means to find necessary words and pieces of information.

  20. Hand Functioning in Children with Cerebral Palsy

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    Arnould, Carlyne; Bleyenheuft, Yannick; Thonnard, Jean-Louis

    2014-01-01

    Brain lesions may disturb hand functioning in children with cerebral palsy (CP), making it difficult or even impossible for them to perform several manual activities. Most conventional treatments for hand dysfunction in CP assume that reducing the hand dysfunctions will improve the capacity to manage activities (i.e., manual ability, MA). The aim of this study was to investigate the directional relationships (direct and indirect pathways) through which hand skills influence MA in children with CP. A total of 136 children with CP (mean age: 10 years; range: 6–16 years; 35 quadriplegics, 24 diplegics, 77 hemiplegics) were assessed. Six hand skills were measured on both hands: touch-pressure detection (Semmes–Weinstein esthesiometer), stereognosis (Manual Form Perception Test), proprioception (passive mobilization of the metacarpophalangeal joints), grip strength (GS) (Jamar dynamometer), gross manual dexterity (GMD) (Box and Block Test), and fine finger dexterity (Purdue Pegboard Test). MA was measured with the ABILHAND-Kids questionnaire. Correlation coefficients were used to determine the linear associations between observed variables. A path analysis of structural equation modeling was applied to test different models of causal relationships among the observed variables. Purely sensory impairments did seem not to play a significant role in the capacity to perform manual activities. According to path analysis, GMD in both hands and stereognosis in the dominant hand were directly related to MA, whereas GS was indirectly related to MA through its relationship with GMD. However, one-third of the variance in MA measures could not be explained by hand skills. It can be concluded that MA is not simply the integration of hand skills in daily activities and should be treated per se, supporting activity-based interventions. PMID:24782821

  1. Hand functioning in children with cerebral palsy

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    Carlyne eArnould

    2014-04-01

    Full Text Available Brain lesions may disturb hand functioning in children with cerebral palsy (CP, making it difficult or even impossible for them to perform several manual activities. Most conventional treatments for hand dysfunction in CP assume that reducing the hand dysfunctions will improve the capacity to manage activities (i.e., manual ability, MA. The aim of this study was to investigate the directional relationships (direct and indirect pathways through which hand skills influence MA in children with CP. A total of 136 children with CP (mean age: 10 years; range: 6–16 years; 35 quadriplegics, 24 diplegics, 77 hemiplegics were assessed. Six hand skills were measured on both hands: touch-pressure detection (Semmes-Weinstein aesthesiometer, stereognosis (Manual Form Perception Test, proprioception (passive mobilization of the metacarpophalangeal joints, grip strength (Jamar dynamometer, gross manual dexterity (Box and Block Test, and fine finger dexterity (Purdue Pegboard Test. MA was measured with the ABILHAND-Kids questionnaire. Correlation coefficients were used to determine the linear associations between observed variables. A path analysis of structural equation modeling was applied to test different models of causal relationships among the observed variables. Purely sensory impairments did seem not to play a significant role in the capacity to perform manual activities. According to path analysis, gross manual dexterity in both hands and stereognosis in the dominant hand were directly related to MA, whereas grip strength was indirectly related to MA through its relationship with gross manual dexterity. However, one-third of the variance in MA measures could not be explained by hand skills. It can be concluded that MA is not simply the integration of hand skills in daily activities and should be treated per se, supporting activity-based interventions.

  2. Parálisis cerebral Cerebral palsy

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    Jorge Malagon Valdez

    2007-01-01

    Full Text Available El término parálisis cerebral (PC engloba a un gran número de síndromes neurológicos clínicos, de etiología diversa. Estos síndromes se caracterizan por tener una sintomatología común: los trastornos motores. Algunos autores prefieren manejar términos como "encefalopatía fija", "encefalopatías no evolutivas". Se mencionan la utilidad de programas de intervención temprana y métodos especiales de rehabilitación, así como el manejo de las deficiencias asociadas como la epilepsia, deficiencia mental, trastornos del lenguaje, audición, visión, déficit de la atención que mejoran el pronóstico de manera significativa. El pronóstico también depende de la gravedad del padecimiento y de las manifestaciones asociadas.The term cerebral palsy (CP, is used for a great number of clinical neurological syndromes. The syndromes are characterized by having a common cause, motor defects. It is important, because they can cause a brain damage by presenting motor defects and some associated deficiencies, such as mental deficiency, epilepsy, language and visual defects and pseudobulbar paralysis, with the nonevolving fact. Some authors prefer using terms such as "non-evolving encephalopathies". In the treatment the utility of prevention programs of early stimulation and special rehabilitation methods, and treatment of associated deficiencies such as epilepsy, mental deficiency, language, audition and visual problems, and the attention deficit improve the prognosis in an important way. The prognosis depends on the severity of the disease and the associated manifestations.

  3. Treating cerebral palsy with aculaser therapy

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    Anwar, Shahzad; Nazir Khan, Malik M.; Nadeem Khan, Malik M.; Qazi, Faiza M.; Awan, Abid H.; Dar, Irfan

    2008-03-01

    A single, open and non comparative study was conducted at Anwar Shah Trust for C.P. & Paralysis in collaboration with the Departments of Neurology and Neurosurgery, Children Hospital Lahore, Pakistan to evaluate the effects of ACULASER THERAPY in childern suffering from Cerebral Palsy (C.P.) and associated Neurological Disorders like epilepsy, cortical blindness, spasticity, hemiplegia, paraplegia, diplegia, quadriplegia, monoplegia, sensory-neural deafness and speech disorders. In all 250 childern were treated and the data was gathered during a period of 3 years from December 2003 till December 2006. These children were further classified according to the type of C.P. (spastic, athetoid, mixed) they suffered from and associated Neurological Disorders. This article shows results in C.P. childern who were treated with ACULASER THERAPY for minimum 6 weeks and more or had minimum of 15 treatment sessions and more. This article also shows that those childern who were given a break in the treatment for 1 month to 1 year did not show any reversal of the signs and symptoms. Analysis of the data showed that out of 171 children with Spasticity and Stiffness 147 showed marked improvement showing 87% success rate, out of 126 children with Epileptic fits, there was a significant reduction in the intensity, frequency and duration of Epileptic fits in 91 children showing 72% success rate, out of 48 children with Cortical Blindness 30 children showed improvement accounting for 63% efficacy rate, out of 105 children with Hearing Difficulties, 63 showed marked improvement accounting for 60% improvement rate, out of 190 children with Speech Disorders 122 showed improvement reflecting 64% improvement rate, out of 96 children with Hemiplegia 71 showed improvement in movement, tone and power accounting for 74% improvement rate, out of 76 children with Quadriplegia 52 showed improvement in gross and fine motor functions showing 69% success rate and out of 58 children with Paraplegia of

  4. Retrospective Descriptive Study of Cerebral Palsy in Nepal

    Science.gov (United States)

    Thapa, Ritesh

    2016-01-01

    There is very little data pertaining to cerebral palsy (CP) from Nepal. In this retrospective study it was observed that dyskinetic CP was seen in 29% and the sex ratio of males to females was two in the study population of children with CP. Both of these are much higher than data from developed countries. Hence, further randomized cross-sectional…

  5. PHRENIC NERVE PALSY AFTER SUPRACLAVICULAR BRACHIAL PLEXUS BLOCK

    Directory of Open Access Journals (Sweden)

    Gupta A K

    2009-09-01

    Full Text Available A 67 year old male patient was scheduled for implant removal from right upper limb under supraclavicular block. During procedure patient develops right phrenic nerve palsy & complains of dyspnea which was managed conservatively and no intervention done except chest x-ray for confirming the diagnosis. Surgeons completed the implant removal without any invasive intervention or interruption.

  6. Language and Motor Speech Skills in Children with Cerebral Palsy

    Science.gov (United States)

    Pirila, Silja; van der Meere, Jaap; Pentikainen, Taina; Ruusu-Niemi, Pirjo; Korpela, Raija; Kilpinen, Jenni; Nieminen, Pirkko

    2007-01-01

    The aim of the study was to investigate associations between the severity of motor limitations, cognitive difficulties, language and motor speech problems in children with cerebral palsy. Also, the predictive power of neonatal cranial ultrasound findings on later outcome was investigated. For this purpose, 36 children (age range 1 year 10 months…

  7. Lyme disease presenting with bilateral facial nerve palsy.

    Science.gov (United States)

    Eng, G D

    1990-09-01

    Facial palsy bilateral, or recurrent, suggests a myriad of diagnostic possibilities. An 11-year-old boy is described whose diagnosis remained elusive for several months. Clinical evolution and subsequent laboratory studies confirmed that he had Lyme disease. Literature review suggests that this disorder is ubiquitous in its manifestations. The diagnosis should be remembered in unexplained neurologic disorders, particularly in cranial and peripheral neuropathies.

  8. Aerobic capacity in children and adolescents with cerebral palsy

    NARCIS (Netherlands)

    Verschuren, Olaf; Takken, Tim

    2010-01-01

    This study described the aerobic capacity [VO(2peak) (ml/kg/min)] in contemporary children and adolescents with cerebral palsy (CP) using a maximal exercise test protocol. Twenty-four children and adolescents with CP classified at Gross Motor Functional Classification Scale (GMFCS) level I or level

  9. Pudendal nerve palsy in trauma and elective orthopaedic surgery.

    Science.gov (United States)

    Polyzois, Ioannis; Tsitskaris, Konstantinos; Oussedik, Sam

    2013-12-01

    The incidence of pudendal nerve palsy following routine trauma and elective orthopaedic surgery procedures ranges from 1.9% to 27.6%. Excessive and/or prolonged traction against the perineal post of a traction table, leading to direct compression and localised ischaemia to the nerve are suggested mechanisms of injury. Misuse of traction and the inappropriate placement of the perineal post, leading to crushing and stretching of the pudendal nerve, are two main contributing factors leading to its postoperative palsy. The sequelae may be sensory, motor or mixed. In most cases, these injuries are transient and tend to resolve within several weeks or months. However, complete neurological recovery may be unpredictable and the effects of ongoing dysfunction potentially disastrous for the individual. In terms of preventative measures, magnitude and duration of traction time should be minimised; traction should be limited to the critical operative steps only. Additionally, the perineal post should be placed between the genitalia and the contralateral leg. A well-padded, large-diameter perineal post should be used (>10cm). Adequate muscle relaxation during anaesthesia is particularly important in young men who have strong muscles and thus require larger traction forces when compared to elderly patients. Orthopaedic surgeons should be aware of the pathophysiology behind the development of this palsy and the measures that can be employed to reduce its occurrence. In procedures where a traction table is employed, consenting for pudendal nerve palsy should be considered by the surgical team.

  10. Cerebral Palsy Checklist: Big Kids (6 to 12)

    Science.gov (United States)

    ... palsy as they are for all kids. Many sports programs, such as Special Olympics , Little League Challenger Division , and TOPSoccer , can help your child to be physically active while also meeting new friends who have similar challenges. Therapeutic horseback riding programs and aquatic therapy are also ...

  11. Reproducibility of Tactile Assessments for Children with Unilateral Cerebral Palsy

    Science.gov (United States)

    Auld, Megan Louise; Ware, Robert S.; Boyd, Roslyn Nancy; Moseley, G. Lorimer; Johnston, Leanne Marie

    2012-01-01

    A systematic review identified tactile assessments used in children with cerebral palsy (CP), but their reproducibility is unknown. Sixteen children with unilateral CP and 31 typically developing children (TDC) were assessed 2-4 weeks apart. Test-retest percent agreements within one point for children with unilateral CP (and TDC) were…

  12. Aerobic Capacity in Children and Adolescents with Cerebral Palsy

    Science.gov (United States)

    Verschuren, Olaf; Takken, Tim

    2010-01-01

    This study described the aerobic capacity [VO[subscript 2peak] (ml/kg/min)] in contemporary children and adolescents with cerebral palsy (CP) using a maximal exercise test protocol. Twenty-four children and adolescents with CP classified at Gross Motor Functional Classification Scale (GMFCS) level I or level II and 336 typically developing…

  13. Rehabilitation of Bells' palsy from a multi-team perspective.

    Science.gov (United States)

    Hultcrantz, Malou

    2016-01-01

    Conclusions Defectively healed facial paralysis causes difficulties to talk and eat, involuntary spasms (synkinesis), and cosmetic deformities which can give rise both to severe psychological and physical trauma. A team consisting of Ear-Nose-Throat specialists, Plastic surgeons and Physiotherapists can offer better care, treatment and outcome for patients suffering from Bells' palsy. Objectives Patients suffering from Bells' palsy from all ENT hospitals in Sweden and the University Hospital in Helsinki has been included. Methods Results have been drawn and statistically processed for different outcomes from a prospective, double blind cross over study. Results from a pilot surgical study and therapeutic results from physiotherapy studies have been included. Ideas concerning different kinds of surgery will be reviewed and the role of physiotherapy discussed. Results According to common results, treatment with Prednisolone enhances the recovery rate and should, if possible, be used early in the course. Sunnybrook grading at 1 month after onset most accurately predicts non-recovery at 12 months in Bells' palsy and a risk factor curve will be presented in order to predict outcome and selection of patients for undergoing facial surgery. This report is focusing on how to handle patients with Bells' palsy from a multi-rehabilitation team point of view, and what will be recommended to provide these patients with the best clinical and surgical help.

  14. Intermittent versus Continuous Physiotherapy in Children with Cerebral Palsy

    Science.gov (United States)

    Christiansen, Annette Sandahl; Lange, Christa

    2008-01-01

    The aim of this study was to compare the effect of the delivery of the same amount of intermittent versus continuous physiotherapy given to children with cerebral palsy (CP). This was organized either in an intermittent regime four times a week for 4 weeks alternating with a 6-week treatment pause, or a continuous once or twice a week regime, both…

  15. Tactile Assessment in Children with Cerebral Palsy: A Clinimetric Review

    Science.gov (United States)

    Auld, Megan Louise; Boyd, Roslyn Nancy; Moseley, G. Lorimer; Johnston, Leanne Marie

    2011-01-01

    This review evaluates the clinimetric properties of tactile assessments for children with cerebral palsy. Assessment of registration was reported using Semmes Weinstein Monofilaments (SWMs) or exteroception. Assessment of two-point discrimination was reported using the Disk-Criminator[R] or paperclip methods; Single point localization and double…

  16. Everyday life and social consequences of cerebral palsy

    DEFF Research Database (Denmark)

    Uldall, Peter

    2013-01-01

    The disclosure of diagnosis for a child with cerebral palsy (CP) is a highly stressful experience to the parents. The experience can be alleviated by clarity, empathy, and an emphasis on the child's resources and abilities. Despite chronic stress many families function well and manage to strengthen...

  17. Home literacy environment: characteristics of children with cerebral palsy

    NARCIS (Netherlands)

    Peeters, M.H.J.; Verhoeven, L.T.W.; Balkom, L.J.M. van; Moor, J.M.H. de

    2009-01-01

    Background: Various aspects of the home literacy environment are considered to stimulate the emergent literacy development in children without disabilities. It is important to gain insight into the home literacy environment of children with cerebral palsy given that they have been shown to have diff

  18. Evaluating rehabilitation interventions in preschool children with cerebral palsy

    NARCIS (Netherlands)

    Kruijsen-Terpstra, A.J.A.

    2015-01-01

    Children with cerebral palsy (CP) face limitations in their daily activities, in particular regarding mobility and self-care. Although many treatment ideas and approaches are available, evidence to show which intervention is the most effective for preschool children with CP is lacking. Furthermore,

  19. Postural control during reaching in preterm children with cerebral palsy

    NARCIS (Netherlands)

    van der Heide, JC; Begeer, C; Fock, JM; Otten, B; Stremmelaar, E; van Eykern, LA; Hadders-Algra, M

    2004-01-01

    Postural control during reaching with the dominant arm was assessed in 58 preterm children with cerebral palsy (CP) aged 2 to 11 years, comprising 34 with spastic hemiplegia (17 males, 17 females) and 24 with bilateral spastic CP (bilateral CP; 15 male, 9 females). Assessments were made by multiple

  20. What constitutes cerebral palsy in the twenty-first century?

    DEFF Research Database (Denmark)

    Smithers-Sheedy, Hayley; Badawi, Nadia; Blair, Eve

    2014-01-01

    AIM: Determining inclusion/exclusion criteria for cerebral palsy (CP) surveillance is challenging. The aims of this paper were to (1) define inclusion/exclusion criteria that have been adopted uniformly by surveillance programmes and identify where consensus is still elusive, and (2) provide an u...

  1. Gait Training and Ankle Dorsiflexors in Cerebral Palsy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2015-03-01

    Full Text Available Investigators at University of Copenhagen, Denmark, evaluated whether 4 weeks of 30 min daily treadmill training with an incline may facilitate corticospinal transmission and improve control of the ankle joint in 16 children, aged 5-14 years, with cerebral palsy.

  2. The Effect of Hominis Placenta Herbal Acupuncture on Bell's palsy

    Directory of Open Access Journals (Sweden)

    Yun Jeong-hun

    2000-07-01

    Full Text Available This report was done to observe the effect of Hominis placenta herbal acupuncture on Bell's palsy. The study group comprised 16 patients who arrived at Woo-suk university oriental hospital from January, 1999 till January, 2000 for Bell's palsy. All patients were divided into two group. One was herbal acupunture group, and the other was control group. Acupunture group was done herbal acupuncture therapy on the facial acupuncture points. Followings are achievement and a term of each group. In herbal acupuncture group, 100% motor recovery was 7 case, 75% was 1 case, and 25% motor recovery term was 7.38±5.21 days, 50% was 11.00±6.16 days, 75% was 15.13±9.55 days, 100% was 23.14±7.97 days. In control group, 100% motor recovery was 4 case, 75% was 2 case, 25% below was 2 case and 25% motor recovery term was 11.17±4.96days, 50% was 18.17±6.82 days, 75% was 29.50±6.95 days, 100% was 44.00±11.49 days. The above results indicate that Hominis placenta herbal acupuncture is a useful effect on Bell's palsy. thus, continuous herbal acupunture study will be needed for more clinical application on Bell' palsy.

  3. 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...

  4. Nutritional Assessment of the Young Child with Cerebral Palsy.

    Science.gov (United States)

    Fee, Maureen A.; And Others

    1988-01-01

    Children with cerebral palsy sometimes display nutritional inadequacy, as evaluated through anthropometric measurements and laboratory values. Causes of poor nutritional status include inadequate calories offered or adequate calories offered but not consumed. Inadequate caloric retention may be due to vomiting, rumination, or gastroesophageal…

  5. Growth and Nutrition Disorders in Children with Cerebral Palsy

    Science.gov (United States)

    Kuperminc, Michelle N.; Stevenson, Richard D.

    2008-01-01

    Growth and nutrition disorders are common secondary health conditions in children with cerebral palsy (CP). Poor growth and malnutrition in CP merit study because of their impact on health, including psychological and physiological function, healthcare utilization, societal participation, motor function, and survival. Understanding the etiology of…

  6. Contralateral reinnervation of midline muscles in nonidiopathic facial palsy.

    NARCIS (Netherlands)

    Gilhuis, H.J.; Beurskens, C.H.G.; Vries, J. de; Marres, H.A.M.; Hartman, E.H.M.; Zwarts, M.J.

    2003-01-01

    The purpose of this study was to analyze contralateral reinnervation of the facial nerve in eight patients with complete facial palsy after surgery or trauma and seven healthy volunteers. All patients had contralateral reinnervation of facial muscles as demonstrated by electrical nerve stimulation v

  7. Language Abilities Following Prematurity, Periventricular Brain Injury, and Cerebral Palsy.

    Science.gov (United States)

    Feldman, Heidi M.; And Others

    1994-01-01

    This study compared language abilities in three groups of preschool children (total n=18) who were born prematurely: children with bilateral spastic cerebral palsy associated with perinatal brain injury, with similar brain injury but no motor impairment, and with no brain injuries. No significant differences were observed among the groups on any…

  8. Behaviour in Children with Cerebral Palsy with and without Epilepsy

    Science.gov (United States)

    Carlsson, Malin; Olsson, Ingrid; Hagberg, Gudrun; Beckung, Eva

    2008-01-01

    The aim of the study was to describe behavioural problems in children with cerebral palsy (CP) with and without epilepsy. The children were sampled from the Western Sweden CP register and were part of a European Union project. The Strength and Difficulties Questionnaire and questions on epilepsy were answered by one parent of each child. Medical…

  9. Handling the Young Cerebral Palsied Child at Home.

    Science.gov (United States)

    Finnie, Nancie R.

    Written primarily for parents of cerebral palsied children, the text discusses and illustrates methods for handling the child in daily activities. Introduced with a questionnaire concerning developmental stages and activity levels, the manual describes the most common difficulties of the spastic, athetoid, ataxic, or flaccid child. Drawings and…

  10. Executive Functions in Youth With Spastic Cerebral Palsy

    NARCIS (Netherlands)

    Pirila, Silja; van der Meere, Jaap J.; Rantanen, Kati; Jokiluoma, Maria; Eriksson, Kai

    2011-01-01

    Dependent on criteria used, between 35% and 53% of the participants with cerebral palsy fulfilled the criteria of clinically relevant executive function problems as defined by Conners' (1994) Continuous Performance Test. Executive function problems were noticed mainly in participants with bilateral

  11. Diagnosis of Bell palsy with gadolinium magnetic resonance imaging.

    Science.gov (United States)

    Becelli, R; Perugini, M; Carboni, A; Renzi, G

    2003-01-01

    Bell palsy is a condition resulting from a peripheral edematous compression on the nervous fibers of the facial nerve. This pathological condition often has clinical characteristics of no importance and spontaneously disappears in a short time in a high percentage of cases. Facial palsy concerning cranial nerve VII can also be caused by other conditions such as mastoid fracture, acoustic neurinoma, tumor spread to the temporal lobe (e.g., cholesteatoma), neoformation of the parotid gland, Melkersson-Rosenthal syndrome, and Ramsay-Hunt syndrome. Therefore, it is important to adopt an accurate diagnostic technique allowing the rapid detection of Bell palsy and the exclusion of causes of facial paralysis requiring surgical treatment. Magnetic resonance imaging (MRI) with medium contrast of the skull shows a marked increase in revealing lesions, even of small dimensions, inside the temporal bone and at the cerebellopontine angle. The authors present a clinical case to show the important role played by gadolinium MRI in reaching a diagnosis of Bell palsy in the differential diagnosis of the various conditions that determine paralysis of the facial nerve and in selecting the most suitable treatment or surgery to be adopted.

  12. Understanding Participation of Preschool-Age Children with Cerebral Palsy

    Science.gov (United States)

    Chiarello, Lisa Ann; Palisano, Robert J.; Orlin, Margo N.; Chang, Hui-Ju; Begnoche, Denise; An, Mihee

    2012-01-01

    Participation in home, school, and community activities is a primary outcome of early intervention services for children with disabilities and their families. The objectives of this study were to (a) describe participation of preschool-age children with cerebral palsy (CP); (b) determine effects of sex, age, and gross motor function on intensity…

  13. Orthodontic Treatment for a Patient with Cerebral Palsy

    Institute of Scientific and Technical Information of China (English)

    TANG Kai-hong; DUAN Chang-hua; WANG Zeng-quan

    2009-01-01

    @@ Cerebral palsy(CP) is a group of permanent disorders asso-ciated with the developmental brain injuries that occur during fe-tal development, at birth, or shortly after birth[1,2]. Very few of such patients had the chance to be treated their maloccluded teeth. So, many orthodontists have no experience on such cases.

  14. Robot-Assisted Task-Specific Training in Cerebral Palsy

    Science.gov (United States)

    Krebs, Hermano I.; Ladenheim, Barbara; Hippolyte, Christopher; Monterroso, Linda; Mast, Joelle

    2009-01-01

    Our goal was to examine the feasibility of applying therapeutic robotics to children and adults with severe to moderate impairment due to cerebral palsy (CP). Pilot results demonstrated significant gains for both groups. These results suggest that robot-mediated therapy may be an effective tool to ameliorate the debilitating effects of CP and…

  15. Cerebral palsy litigation: change course or abandon ship.

    Science.gov (United States)

    Sartwelle, Thomas P; Johnston, James C

    2015-06-01

    The cardinal driver of cerebral palsy litigation is electronic fetal monitoring, which has continued unabated for 40 years. Electronic fetal monitoring, however, is based on 19th-century childbirth myths, a virtually nonexistent scientific foundation, and has a false positive rate exceeding 99%. It has not affected the incidence of cerebral palsy. Electronic fetal monitoring has, however, increased the cesarian section rate, with the expected increase in mortality and morbidity risks to mothers and babies alike. This article explains why electronic fetal monitoring remains endorsed as efficacious in the worlds' labor rooms and courtrooms despite being such a feeble medical modality. It also reviews the reasons professional organizations have failed to condemn the use of electronic fetal monitoring in courtrooms. The failures of tort reform, special cerebral palsy courts, and damage limits to stem the escalating litigation are discussed. Finally, the authors propose using a currently available evidence rule-the Daubert doctrine that excludes "junk science" from the courtroom-as the beginning of the end to cerebral palsy litigation and electronic fetal monitoring's 40-year masquerade as science.

  16. Predictors of Verbal Working Memory in Children with Cerebral Palsy

    Science.gov (United States)

    Peeters, Marieke; Verhoeven, Ludo; de Moor, Jan

    2009-01-01

    The goal of the present study was to examine the precursors of verbal working memory in 52 children with cerebral palsy with varying degrees of speech impairments in the first grade of special education. Following Baddeley's model of working memory, children's verbal working memory was measured by means of a forced-recognition task. As precursors…

  17. Home Literacy Environment: Characteristics of Children with Cerebral Palsy

    Science.gov (United States)

    Peeters, Marieke; Verhoeven, Ludo; van Balkom, Hans; de Moor, Jan

    2009-01-01

    Background: Various aspects of the home literacy environment are considered to stimulate the emergent literacy development in children without disabilities. It is important to gain insight into the home literacy environment of children with cerebral palsy given that they have been shown to have difficulty acquiring literacy skills. Aims: The aims…

  18. Systemic inflammation and cerebral palsy risk in extremely preterm infants.

    Science.gov (United States)

    Kuban, Karl C K; O'Shea, T Michael; Allred, Elizabeth N; Paneth, Nigel; Hirtz, Deborah; Fichorova, Raina N; Leviton, Alan

    2014-12-01

    The authors hypothesized that among extremely preterm infants, elevated concentrations of inflammation-related proteins in neonatal blood are associated with cerebral palsy at 24 months. In 939 infants born before 28 weeks gestation, the authors measured blood concentrations of 25 proteins on postnatal days 1, 7, and 14 and evaluated associations between elevated protein concentrations and cerebral palsy diagnosis. Protein elevations within 3 days of birth were not associated with cerebral palsy. Elevations of tumor necrosis factor-α, tumor necrosis factor-α-receptor-1, interleukin-8, and intercellular adhesion molecule-1 on at least 2 days were associated with diparesis. Recurrent-persistent elevations of interleukin-6, E-selectin, or insulin-like growth factor binding protein-1 were associated with hemiparesis. Diparesis and hemiparesis were more likely among infants who had at least 4 of 9 protein elevations that previously have been associated with cognitive impairment and microcephaly. Repeated elevations of inflammation-related proteins during the first 2 postnatal weeks are associated with increased risk of cerebral palsy.

  19. Functional Electrical Stimulation in Children and Adolescents with Cerebral Palsy

    Science.gov (United States)

    van der Linden, Marietta

    2012-01-01

    In this article, the author talks about functional electrical stimulation in children and adolescents with cerebral palsy. Functional electrical stimulation (FES) is defined as the electrical stimulation of muscles that have impaired motor control, in order to produce a contraction to obtain functionally useful movement. It was first proposed in…

  20. Operant Control of Pathological Tongue Thrust in Spastic Cerebral Palsy.

    Science.gov (United States)

    Thompson, George A., Jr.

    1979-01-01

    The behavior modification procedure, carried out at mealtime with a ten-year-old retarded boy who had spastic cerebral palsy, consisted of differential reinforcement and punishment, and resulted in substantial decreases in tongue thrust (reverse swallowing) and food expulsion, and a large increase in observed chewing. (Author/DLS)

  1. Cerebral Palsy Symptoms in Children Decreased Following Massage Therapy

    Science.gov (United States)

    Hernandez-Reif, Maria; Field, Tiffany; Largie, Shay; Diego, Miguel; Manigat, Natasha; Seoanes, Jacqueline; Bornstein, Joan

    2005-01-01

    Twenty young children (mean age = 32 months) with cerebral palsy (CP) recruited from early intervention programs received 30 minutes of massage or reading twice weekly for 12 weeks. The children receiving massage therapy showed fewer physical symptoms including reduced spasticity, less rigid muscle tone overall and in the arms, and improved fine…

  2. Physical activity in young children with cerebral palsy

    NARCIS (Netherlands)

    Zwier, J. Nathalie; van Schie, Petra E. M.; Becher, Jules G.; Smits, Dirk-Wouter; Gorter, Jan Willem; Dallmeijer, Annet J.

    2010-01-01

    Purpose. The aim of this study was to describe the physical activity levels of 5- and 7-year-old children with cerebral palsy (CP, n = 97), to compare their physical activity levels with those of typically developing peers (TD, n = 57) and the Dutch recommendation for physical activity, and to inves

  3. Operative treatment for spinal deformities in cerebral palsy.

    Science.gov (United States)

    Hasler, Carol C

    2013-11-01

    The higher the functional impairment, the more likely patients with cerebral palsy (cP) are to develop a scoliotic deformity. This is usually long-sweeping, C-shaped, and progressive in nature, since the causes of the deformity, such as muscular weakness, imbalance, and osteoporosis, persist through adulthood. In contrast to idiopathic scoliosis, not only is the spine deformed, the patient is also sick. This multimorbidity warrants a multidisciplinary approach with close involvement of the caregivers from the beginning. Brace treatment is usually ineffective or intolerable in light of the mostly stiff and severe deformities and the poor nutritional status. The pros and cons of surgical correction need to weighed up when pelvic obliquity, subsequent loss of sitting balance, pressure sores, and pain due to impingement of the rib cage on the ileum become issues. General risks of, for example, pulmonary or urogenital infections, pulmonary failure, the need for a tracheostoma, permanent home ventilation, and death add to the particular surgery-related hazards, such as excessive bleeding, surgical site infections, pseudarthrosis, implant failure, and dural tears with leakage of cerebrospinal fluid. The overall complication rate averages around 25 %. From an orthopedic perspective, stiffness, marked deformities including sagittal profile disturbances and pelvic obliquity, as well as osteoporosis are the main challenges. In nonambulatory patients, long fusions from T2/T3 with forces distributed over all segments, low-profile anchors in areas of poor soft tissue coverage (sublaminar bands, wires), and strong lumbosacropelvic modern screw fixation in combination with meticulous fusion techniques (facetectomies, laminar decortication, use of local autologous bone) and hemostasis can be employed to keep the rate of surgical and implant-related complications at an acceptably low level. Excessive posterior release techniques, osteotomies, or even vertebrectomies in cases of

  4. Use of Sensorimotor Functions for Early Identification and Neurohabilitation of Infants with Cerebral Palsy and/or Cerebral Palsy Precursors.

    Science.gov (United States)

    Covey, Thomas J.

    1997-01-01

    Presents the use of six sensorimotor functions (SMF) as a screening test for cerebral palsy in neonates. Functions include sitting in air, self-pulling to sit, self-propelling Katona slide crawl, assisted crawling, and elementary walking. Nine case examples are provided in an appendix. (Author/CR)

  5. Quality of life in children with cerebral palsy: implications for practice.

    Science.gov (United States)

    Gilson, Kim-Michelle; Davis, Elise; Reddihough, Dinah; Graham, Kerr; Waters, Elizabeth

    2014-08-01

    The ability to assess the quality of life of children with cerebral palsy to inform and evaluate individual care plans, service planning, interventions, and policies is crucial. In this article, the recent evidence on quality of life in children with cerebral palsy is reviewed, with attention to the determinants of quality of life and role of this construct as a practical outcome indicator in clinical trials. Quality of life measurement advances for children with cerebral palsy are discussed with a focus on condition-specific quality of life measures, particularly, the Cerebral Palsy Quality of Life-Child, which is the first condition-specific quality of life measure for children with cerebral palsy. The article presents an overview for clinicians and researchers intending to use quality of life measures on children with cerebral palsy and provides recommendations for future research that will better inform practice in the field.

  6. Homozygous hemoglobin S (HbSS) presenting with bilateral facial nerve palsy: a case report

    OpenAIRE

    Ogundunmade, Babatunde Gbolahan; Jasper, Unyime Sunday

    2014-01-01

    Background Bilateral facial nerve palsy is a relatively rare presentation and often points to a serious underlying medical condition. Several studies have reported presentation of bilateral facial nerve palsy in association with Lyme disease, Guillain-Barre syndrome, systemic lupus erythematosus, human immunodeficiency virus, sarcoidosis, diabetes and Hanson disease. While unilateral facial nerve palsy is sometimes associated with hemiplegia in sickle cell patients, no case of bilateral facia...

  7. Isolated Bell’s palsy - An unusual presentation of dengue infection

    Institute of Scientific and Technical Information of China (English)

    Peter S; Malhotra N; Peter P; Sood R

    2013-01-01

    Dengue fever is a very common arthropod – borne infection in tropical countries. Neurological complications in dengue fever are relatively uncommon and among these, isolated cranial neuropathies have been reported only very rarely. We present an unusual neurological complication of Bell’s palsy (lower motor neuron 7 th nerve palsy) associated with dengue infection. To the best of our knowledge, there have been very few documented cases of Flavivirus causing isolated Bell’s palsy.

  8. Neonatal risk factors for cerebral palsy in very preterm babies: case-control study.

    OpenAIRE

    Murphy, D. J.; Hope, P. L.; Johnson, A.

    1997-01-01

    OBJECTIVE: To identify neonatal risk factors for cerebral palsy among very preterm babies and in particular the associations independent of the coexistence of antenatal and intrapartum factors. DESIGN: Case-control study. SETTING: Oxford health region. SUBJECTS: Singleton babies born between 1984 and 1990 at less than 32 weeks' gestation who survived to discharge from hospital: 59 with cerebral palsy and 234 randomly selected controls without cerebral palsy. MAIN OUTCOME MEASURES: Adverse neo...

  9. Transient facial nerve paralysis (Bell's palsy) following administration of hepatitis B recombinant vaccine: a case report.

    Science.gov (United States)

    Paul, R; Stassen, L F A

    2014-01-01

    Bell's palsy is the sudden onset of unilateral transient paralysis of facial muscles resulting from dysfunction of the seventh cranial nerve. Presented here is a 26-year-old female patient with right lower motor neurone facial palsy following hepatitis B vaccination. Readers' attention is drawn to an uncommon cause of Bell's palsy, as a possible rare complication of hepatitis B vaccination, and steps taken to manage such a presentation.

  10. Clinical Observation on Acupuncture Treatment of 30 Cases with Apoplectic Pseudobulbar Palsy

    Institute of Scientific and Technical Information of China (English)

    彭拥军; 李忠仁; 杨永清; 黄国琪

    2006-01-01

    目的:探讨影响针刺治疗中风假性球麻痹(PBP)患者疗效的因素.方法:将60例风痰阻络型中风假性球麻痹住院患者随机分为治疗组和对照组,对疗效进行观察.结果与结论:针刺效果优于对照组(P<0.05).研究中发现随着脑卒中发生次数的增多,发生重度吞咽困难的机率有增高的趋势,发生吞咽困难的时间相继提前,提示对脑卒中进行早期治疗和预防的重要性.%Objective: To investigate the factors influencing the therapeutic effect in acupuncture treatment of apoplectic pseudobulbar palsy (PBP). Methods: Sixty patients with apoplectic pseudobulbar palsy in pattern of obstruction of wind and phlegm in the meridians were randomly divided into the treatment group and control group, to observe the therapeutic effect. Results and Conclusion: The therapeutic effect was significantly better in the treatment group than in the control group (P<0.05). It has been found in the study that with increase in the occurrence of cerebral apoplexy, the incidence rate of severe dysphagia increased and dysphagia took place progressively earlier, indicating the importance of early treatment and prevention of cerebral apoplexy.

  11. Design and validation of automated femoral bone morphology measurements in cerebral palsy.

    Science.gov (United States)

    Park, Noyeol; Lee, Jehee; Sung, Ki Hyuk; Park, Moon Seok; Koo, Seungbum

    2014-04-01

    Accurate quantification of bone morphology is important for monitoring the progress of bony deformation in patients with cerebral palsy. The purpose of the study was to develop an automatic bone morphology measurement method using one or two radiographs. The study focused on four morphologic measurements-neck-shaft angle, femoral anteversion, shaft bowing angle, and neck length. Fifty-four three-dimensional (3D) geometrical femur models were generated from the computed tomography (CT) of cerebral palsy patients. Principal component analysis was performed on the combined data of geometrical femur models and manual measurements of the four morphologic measurements to generate a statistical femur model. The 3D-2D registration of the statistical femur model for radiography computes four morphological measurements of the femur in the radiographs automatically. The prediction performance was tested here by means of leave-one-out cross-validation and was quantified by the intraclass correlation coefficient (ICC) and by measuring the absolute differences between automatic prediction from two radiographs and manual measurements using original CT images. For the neck-shaft angle, femoral anteversion, shaft bowing angle, and neck length, the ICCs were 0.812, 0.960, 0.834, and 0.750, respectively, and the mean absolute differences were 2.52°, 2.85°, 0.92°, and 1.88 mm, respectively. Four important dimensions of the femur could be predicted from two views with very good agreement with manual measurements from CT and hip radiographs. The proposed method can help young patients avoid instances of large radiation exposure from CT, and their femoral deformities can be quantified robustly and effectively from one or two radiograph(s).

  12. p62/SQSTM1 differentially removes the toxic mutant androgen receptor via autophagy and inclusion formation in a spinal and bulbar muscular atrophy mouse model.

    Science.gov (United States)

    Doi, Hideki; Adachi, Hiroaki; Katsuno, Masahisa; Minamiyama, Makoto; Matsumoto, Shinjiro; Kondo, Naohide; Miyazaki, Yu; Iida, Madoka; Tohnai, Genki; Qiang, Qiang; Tanaka, Fumiaki; Yanagawa, Toru; Warabi, Eiji; Ishii, Tetsuro; Sobue, Gen

    2013-05-01

    Polyglutamine (polyQ) diseases are inherited neurodegenerative disorders that are caused by the expansion of trinucleotide CAG repeats in the causative genes. Spinal and bulbar muscular atrophy (SBMA) is an inherited motor neuron disease that is caused by the expansion of a polyQ tract within the androgen receptor (AR). p62 is a ubiquitin- and light-chain 3-binding protein that is known to regulate the degradation of targeted proteins via autophagy and inclusion formation. In this study, we examined the effects of p62 depletion and overexpression on cultured cells and in a transgenic mouse model that overexpressed the mutant AR. Here, we demonstrate that depletion of p62 significantly exacerbated motor phenotypes and the neuropathological outcome, whereas overexpression of p62 protected against mutant AR toxicity in SBMA mice. Depletion of p62 significantly increased the levels of monomeric mutant AR and mutant AR protein complexes in an SBMA mouse model via the impairment of autophagic degradation. In addition, p62 overexpression improved SBMA mouse phenotypes by inducing cytoprotective inclusion formation. Our results demonstrate that p62 provides two different therapeutic targets in SBMA pathogenesis: (1) autophagy-dependent degradation and (2) benevolent inclusion formation of the mutant AR.

  13. The polyglutamine-expanded androgen receptor responsible for spinal and bulbar muscular atrophy inhibits the APC/CCdh1 ubiquitin ligase complex

    Science.gov (United States)

    Bott, Laura C.; Salomons, Florian A.; Maric, Dragan; Liu, Yuhong; Merry, Diane; Fischbeck, Kenneth H.; Dantuma, Nico P.

    2016-01-01

    Polyglutamine expansion in the androgen receptor (AR) causes spinal and bulbar muscular atrophy (SBMA), an X-linked neuromuscular disease that is fully manifest only in males. It has been suggested that proteins with expanded polyglutamine tracts impair ubiquitin-dependent proteolysis due to their propensity to aggregate, but recent studies indicate that the overall activity of the ubiquitin-proteasome system is preserved in SBMA models. Here we report that AR selectively interferes with the function of the ubiquitin ligase anaphase-promoting complex/cyclosome (APC/C), which, together with its substrate adaptor Cdh1, is critical for cell cycle arrest and neuronal architecture. We show that both wild-type and mutant AR physically interact with the APC/CCdh1 complex in a ligand-dependent fashion without being targeted for proteasomal degradation. Inhibition of APC/CCdh1 by mutant but not wild-type AR in PC12 cells results in enhanced neurite outgrowth which is typically followed by rapid neurite retraction and mitotic entry. Our data indicate a role of AR in neuronal differentiation through regulation of APC/CCdh1 and suggest abnormal cell cycle reactivation as a pathogenic mechanism in SBMA. PMID:27312068

  14. The polyglutamine-expanded androgen receptor responsible for spinal and bulbar muscular atrophy inhibits the APC/C(Cdh1) ubiquitin ligase complex.

    Science.gov (United States)

    Bott, Laura C; Salomons, Florian A; Maric, Dragan; Liu, Yuhong; Merry, Diane; Fischbeck, Kenneth H; Dantuma, Nico P

    2016-06-17

    Polyglutamine expansion in the androgen receptor (AR) causes spinal and bulbar muscular atrophy (SBMA), an X-linked neuromuscular disease that is fully manifest only in males. It has been suggested that proteins with expanded polyglutamine tracts impair ubiquitin-dependent proteolysis due to their propensity to aggregate, but recent studies indicate that the overall activity of the ubiquitin-proteasome system is preserved in SBMA models. Here we report that AR selectively interferes with the function of the ubiquitin ligase anaphase-promoting complex/cyclosome (APC/C), which, together with its substrate adaptor Cdh1, is critical for cell cycle arrest and neuronal architecture. We show that both wild-type and mutant AR physically interact with the APC/C(Cdh1) complex in a ligand-dependent fashion without being targeted for proteasomal degradation. Inhibition of APC/C(Cdh1) by mutant but not wild-type AR in PC12 cells results in enhanced neurite outgrowth which is typically followed by rapid neurite retraction and mitotic entry. Our data indicate a role of AR in neuronal differentiation through regulation of APC/C(Cdh1) and suggest abnormal cell cycle reactivation as a pathogenic mechanism in SBMA.

  15. TORCH infection and cerebral palsy%TORCH感染与小儿脑性瘫痪

    Institute of Scientific and Technical Information of China (English)

    张蔚; 覃蓉

    2001-01-01

    @@Background: Cerebral palsy is a group of disorders that are related but probably have different causes. Children who have cerebral palsy acquire the disorder before or during or after birth. Objective: To discuss the relationship between the TORCH infection and cerebral palsy onset . Design : A TORCH screen is given to the children who have cerebral palsy in our hospital(1996.1~ 1998.6). A TORCH screen checks to see if the baby has been infected by any of the common causes.

  16. FACIAL PALSY AS FIRST PRESENTATION OF ACUTE LYMPHOBLASTIC LEUKEMIA: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    S. Inaloo

    2008-11-01

    Full Text Available ObjectiveFacial paralysis in children is very often idiopathic and isolated facial nerve palsy, resulting from leukemic infiltration is a rare occurrence. Here we present the case of a 14 year-old boy with acute lymphobastic leukemia, who first presented with isolated right side peripheral facial nerve paralysis and was initially diagnosed with Bell's palsy.ConclusionThe presence of Bell's palsy in young children requires a complete evaluation, keeping in mind the possibility of leptomeningeal disease.Key words: Lymphoblastic Leukemia, Facial nerve palsy, Children.

  17. Immediate Postoperative Bell's Palsy: Viral Etiology or Post-Traumatic Phenomena?

    Directory of Open Access Journals (Sweden)

    Mohammad Ghasem Shams

    2010-12-01

    Full Text Available Introduction: Bell’s palsy is a sudden unilateral paralysis of the facial nerve. Postoperative Bell’s palsy following surgery is rare. It occurs in less than 1% of operations. The hypothesis: We premise that the main cause of immediate postoperative Bell's palsy is latent herpes viruses (herpes simplex virus type 1 and herpes zoster virus, which are reactivated from cranial nerve ganglia. Inflammation of the nerve initially results in a reversible neurapraxia, but ultimately Wallerian degeneration ensues. The palsy is often sudden in onset and evolves rapidly, with maximal facial weakness developing within two days. Associated symptoms of-ten seen in idiopathic Bell’s palsy are tearing problems, hyperacusis and altered taste.Evaluation of the hypothesis: Facial paralysis presenting postoperatively is distressing and poses a diagnostic chal-lenge. A complete interruption of the facial nerve at the sty-lomastoid foramen paralyzes all the muscles of facial expression. Taste sensation may be lost unilaterally and hye-racusis may be present. Idiopathic Bell’s palsy is due to inflammation of the facial nerve in the facial canal. Bell’s palsy may also occur from lesions that invade the temporal bone (carotid body, cholesteatoma, dermoid cyst, acoustic neu-romas. Although traumatic Bell’s palsy cannot be ruled out, it seems logic to postulate that the main cause of immediate postoperative Bell's palsy is latent herpes viruses.

  18. Postoperative recovery from posterior communicating aneurysm complicated by oculomotor palsy

    Institute of Scientific and Technical Information of China (English)

    YANG Ming-qi; WANG Shuo; ZHAO Yuan-li; ZHANG Dong; ZHAO Ji-zong

    2008-01-01

    Background Oculomotor palsy is a common complication in patients with posterior communicating aneurysm.This study was conducted to investigate the postoperative recovery of patients with posterior communicating aneurysm complicated with oculomotor palsy and to analyze the factors influencing length of recovery.Methods From 2000 to 2006,148 patients with posterior communicating aneurysm were treated at our hospital,with 74 of them having concurrent unilateral oculomotor palsy.All of the patients underwent craniotomy after the diagnosis by means of whole-brain digital subtraction angiography (DSA).The patients were divided into two groups for observation of postoperative recovery during the follow-up period.Patients in group A were treated with simple pedicle clipping of the aneurysm while patients in group B were treated with pedicle clipping of the aneurysm and decompression of the oculomotor nerve.Results Of the 40 patients in group A.20 underwent surgery within 14 days and completely recovered from oculomotor palsy in 10-40 days.Fourteen patients underwent surgery within 14-30 days.of whom 12 completely recovered within 30-90 days and 2 cases recovered incompletely.The remaining six patients underwent surgery after more than 30 days:of these.four patients recovered completely and two recovered incompletely.Of the 34 cases in group B,15 underwent surgery within 14 days and completely recovered from oculomotor palsy in 10-40 days.Sixteen patients underwent surgery in 14-30 days.of whom 14 completely recovered in 30-90 days and 2 recovered incompletely.The remaining three patients underwent surgery after more than 30 days,of whom two patients recovered completely and one recovered incompletely.Conclusions Early diagnosis and surgical treatment of patients with unilateral oculomotor palsy induced by posterior communicating aneurysm are important to full postoperative recovery of the oculomotor nerve.No correlation was found,however,between decompression of the

  19. Bell palsy in lyme disease-endemic regions of canada: a cautionary case of occult bilateral peripheral facial nerve palsy due to Lyme disease.

    Science.gov (United States)

    Ho, Karen; Melanson, Michel; Desai, Jamsheed A

    2012-09-01

    Lyme disease caused by the spirochete Borrelia burgdorferi is a multisystem disorder characterized by three clinical stages: dermatologic, neurologic, and rheumatologic. The number of known Lyme disease-endemic areas in Canada is increasing as the range of the vector Ixodes scapularis expands into the eastern and central provinces. Southern Ontario, Nova Scotia, southern Manitoba, New Brunswick, and southern Quebec are now considered Lyme disease-endemic regions in Canada. The use of field surveillance to map risk and endemic regions suggests that these geographic areas are growing, in part due to the effects of climate warming. Peripheral facial nerve palsy is the most common neurologic abnormality in the second stage of Lyme borreliosis, with up to 25% of Bell palsy (idiopathic peripheral facial nerve palsy) occurring due to Lyme disease. Here we present a case of occult bilateral facial nerve palsy due to Lyme disease initially diagnosed as Bell palsy. In Lyme disease-endemic regions of Canada, patients presenting with unilateral or bilateral peripheral facial nerve palsy should be evaluated for Lyme disease with serologic testing to avoid misdiagnosis. Serologic testing should not delay initiation of appropriate treatment for presumed Bell palsy.

  20. Bruxism Control in a Child with Cerebral Palsy

    Science.gov (United States)

    Oliveira, Cristiana Aroeira G. R.; de Paula, Viviane Andrade Cancio; Portela, Maristela Barbosa; Primo, Laura Salignac Guimarães; Castro, Gloria Fernanda

    2011-01-01

    Cerebral palsy (CP) is one of the most severe childhood disabilities due to a lesion in the developing brain. Oral conditions often observed in this pathogenic are a tendency for the delayed eruption of permanent molars, higher percentages of malocclusion and parafunctional habits, including bruxism. The significance of oral conditions observed in CP patients demonstrates the need for intensive home and professional care for these individuals. This paper presents a 7-year-old boy, with cerebral palsy, severe mental retardation, who had high abrasion wear of the primary teeth related to bruxism. Dental care was carried out under oxide-induced sedation, and management of the bruxism was achieved after the use of a resin acrylic protective appliance fixed on both sides of the mandibula. The treatment performed offered efficiency advantages, was clinically viable, and should be a valuable option to practitioners considering appliance therapy to control parafunctional behavior. PMID:21991456

  1. Antiviral treatment for Bell's palsy (idiopathic facial paralysis

    Directory of Open Access Journals (Sweden)

    Ildiko Gagyor

    Full Text Available ABSTRACTBACKGROUND: Corticosteroids are widely used in the treatment of idiopathic facial paralysis (Bell's palsy, but the effectiveness of additional treatment with an antiviral agent is uncertain. Significant morbidity can be associated with severe cases of Bell's palsy.OBJECTIVES: To assess the effects of antiviral treatments alone or in combination with any other therapy for Bell's palsy.METHODS:Search methods:On 7 October 2014 we searched the Cochrane Neuromuscular Disease Group Specialized Register, CENTRAL, MEDLINE, EMBASE, LILACS, DARE, NHS EED, and HTA. We also reviewed the bibliographies of the identified trials and contacted trial authors and known experts in the field and relevant drug companies to identify additional published or unpublished data. We searched clinical trials registries for ongoing studies.Selection criteria:We considered randomised controlled trials or quasi-randomised controlled trials of antivirals with and without corticosteroids versus control therapies for the treatment of Bell's palsy.We excluded trials that had a high risk of bias in several domains.Data collection and analysis:Pairs of authors independently assessed trials for relevance, eligibility, and risk of bias, using standard Cochrane procedures.MAIN RESULTS: Eleven trials, including 2883 participants, met the inclusion criteria and are included in the final analysis. We added four studies to the previous review for this update. Some of the trials were small, and a number were at high or unclear risk of bias. Other trials did not meet current best standards in allocation concealment and blinding. Incomplete recovery:We found no significant benefit from adding antivirals to corticosteroids in comparison with corticosteroids alone for people with Bell's palsy (risk ratio (RR 0.69, 95% confidence interval (CI 0.47 to 1.02, n = 1715. For people with severe Bell's palsy (House Brackmann scores of 5 and 6 or the equivalent in other scales, we found a

  2. Motion Tracking of Infants in Risk of Cerebral Palsy

    DEFF Research Database (Denmark)

    Olsen, Mikkel Damgaard

    Every year 2-3 out of 1000 infants are born with cerebral cerebral palsy. Among others, the disorder often affects motor, cognitive and perceptual skills. The disorder is usually detected when the infants are old enough the crawl and walk, i.e. when the infant is 1-2 years old. However, studies...... show that the infant’s movements are affected already in the first year of life and methods exist for assessing the movements. The methods often require observation of the movements and qualitative evaluation of these. A more objective measure is desired in order to be able to diagnose cerebral palsy...... much earlier. The goal with this thesis is to describe the development of a markerless motion tracking system for infants. Based on data recorded with a low-cost depth sensor, image analysis and mathematical modeling is used to model the infant’s body and its movements. Two methods are considered...

  3. Hemiplegic peripheral neuropathy accompanied with multiple cranial nerve palsy

    Directory of Open Access Journals (Sweden)

    Hirohisa Okuma

    2012-03-01

    Full Text Available A 32-year-old man experienced double vision around January, 2010, followed by weakness of his left upper and lower extremities. Articulation disorders and loss of hearing in his left ear developed, and he was admitted to our hospital on February 14, 2010. Physical examination was normal, and neurological examination showed clear consciousness with no impairment of cognitive function, but with articulation disorders. Olfactory sensation was reduced. Left ptosis and left gaze palsy, complete left facial palsy, perceptive deafness of the left ear, and muscle weakness of the left trapezius muscle were observed. Paresis in the left upper and lower extremities was graded 4/5 through manual muscle testing. Sensory system evaluation revealed complete left-side palsy, including the face. Deep tendon reflexes were slightly diminished equally on both sides; no pathologic reflex was seen. No abnormality of the brain parenchyma, cerebral nerves or cervicothoracolumbar region was found on brain magnetic resonance imaging. On electroencephalogram, alpha waves in the main frequency band of 8 to 9 Hz were recorded, indicating normal findings. Brain single photon emission computed tomography (SPECT scan showed reduced blood flow in the right inner frontal lobe and both occipital lobes. Nerve biopsy (left sural nerve showed reduction of nerve density by 30%, with demyelination. The patient also showed manifestations of multiple cranial nerve disorder, i.e., of the trigeminal nerve, glossopharyngeal nerve, vagus nerve, and hypoglossal nerve. Whole-body examination was negative. Finally, based on ischemic brain SPECT images, spinal fluid findings and nerve biopsy results, peripheral neuropathy accompanied with multiple cranial nerve palsy was diagnosed.

  4. Feeding and Gastrointestinal Problems in Children with Cerebral Palsy

    Science.gov (United States)

    Erkin, Gulten; Culha, Canan; Ozel, Sumru; Kirbiyik, Eylem Gulsen

    2010-01-01

    The aim of our study was to identify feeding and gastrointestinal system (GIS) problems in children with cerebral palsy (CP), and to evaluate the relationship between these problems and the severity of CP. A total of 120 children with CP were enrolled consecutively into the study (67 males, 53 females; mean age: 6.0[plus or minus]2.4 years; range:…

  5. The history of facial palsy and spasm: Hippocrates to Razi

    OpenAIRE

    Sajadi, Mohammad M.; Sajadi, Mohamad-Reza M.; Tabatabaie, Seyed Mahmoud

    2011-01-01

    Although Sir Charles Bell was the first to provide the anatomic basis for the condition that bears his name, in recent years researchers have shown that other European physicians provided earlier clinical descriptions of peripheral cranial nerve 7 palsy. In this article, we describe the history of facial distortion by Greek, Roman, and Persian physicians, culminating in Razi's detailed description in al-Hawi. Razi distinguished facial muscle spasm from paralysis, distinguished central from pe...

  6. Stigma Against Mental Illness and Cerebral Palsy in China

    OpenAIRE

    Shen, Liying

    2016-01-01

    This dissertation examines the stigmatization of two health conditions: mental disability and physical disability in the context of China. In particular, it addresses two main themes: the processes and impacts of stigma, and the variables that moderate the association of stigma with social attributes. The first paper applied a qualitative approach to identify the sources of burdens of raising a child with cerebral palsy in China and how stigma and “face” as a cultural factor affect childr...

  7. Medial rectus muscle anchoring in complete oculomotor nerve palsy.

    Science.gov (United States)

    Lee, Si Hyung; Chang, Jee Ho

    2015-10-01

    The management of exotropia resulting from complete oculomotor nerve palsy is challenging. Conventional therapeutic interventions, including supramaximal resection and recession, superior oblique tendon resection and transposition, and several ocular anchoring procedures have yielded less-than-adequate results. Here we describe a novel surgical technique of anchoring the medial rectus muscle to the medial orbital wall in combination with lateral rectus disinsertion and reattachment to the lateral orbital wall.

  8. Temporomandibular Joint Assesment in Children with Cerebral Palsy

    OpenAIRE

    Özden Canbay; Esra Doğru Hüzmeli; Nihan Katayıfçı; Mesut Çelik

    2017-01-01

    Introduction: Aim of this study was to functionally evaluate temporomandibular joint (TMJ) in children with Cerebral palsy (CP). Materials and Methods: After recording the individual’s demographic information, questions about TMJ stiffness, presence of saliva, nutrition, oral splint, pain, respiratory system, history of epilepsy, chewing problems and disease were asked to the individuals and/or parents. Mandibular mobility was evaluated with length measurement and neck muscle strength was ...

  9. Assessment of growth and nutrition in children with cerebral palsy.

    Science.gov (United States)

    Samson-Fang, L; Bell, K L

    2013-12-01

    This manuscript provides an update on the assessment of growth and nutrition in children with cerebral palsy and children with similar neurodevelopmental disabilities. Topics include the assessment of linear growth using segmental measures, avoidance of commonly used tools to assess nutritional status in typically developing children that are not valid in this population of children and how to use other nutritional assessment tools that have been developed specific to this population of children.

  10. Growth and Nutrition Disorders in Children with Cerebral Palsy

    OpenAIRE

    KUPERMINC, MICHELLE N; Stevenson, Richard D.

    2008-01-01

    Growth and nutrition disorders are common secondary health conditions in children with cerebral palsy (CP). Poor growth and malnutrition in CP merit study because of their impact on health, including psychological and physiological function, healthcare utilization, societal participation, motor function, and survival. Understanding the etiology of poor growth has led to a variety of interventions to improve growth. One of the major causes of poor growth, malnutrition, is the best-studied cont...

  11. Peroneal palsy after bariatric surgery: is nerve decompresion always necessary?

    Directory of Open Access Journals (Sweden)

    Ana M. Ramos-Leví

    2013-08-01

    Full Text Available We present two patients who underwent successful bariatric surgery and developed peroneal nerve palsy six months after the procedure. This is an unusual complication which determines a significant functional limitation, mainly because of foot drop, and its presence may be a hallmark of excessive and rapid weight loss. We discuss possible pathogenic mechanisms and therapeutic options, and we emphasize the important role of an adequate nutritional management, in order to avoid the need for a surgical nerve decompression.

  12. Aquatic exercise in the treatment of children with cerebral palsy

    OpenAIRE

    Dimitrijević Lidija; Bjelaković Bojko; Lazović Milica; Stanković Ivona; Čolović Hristina; Kocić Mirjana; Zlatanović Dragan

    2012-01-01

    Introduction. Aquatic exercise is one of the most popular supplementary treatments for children with neuro-motor impairment, especially for cerebral palsy (CP). As water reduces gravity force which increases postural stability, a child with CP exercises more easily in water than on land. Objective. The aim of the study was to examine aquatic exercise effects on gross motor functioning, muscle tone and cardiorespiratory endurance in children with spastic CP. Methods. The study included 1...

  13. FEEDING, GROWTH AND NUTRITION DISORDERS IN CEREBRAL PALSY

    OpenAIRE

    Rosulescu Eugenia; Ilona Ilinca; Mihaela Zăvăleanu; Costin Nanu

    2009-01-01

    Objective: To evaluate the growth, physical development and nutrition status for a sample of cerebral palsied children with spastic, dyskinetic and ataxic type.Material and methods: A total of 81 children with CP, who were rehabilitated in the pediatrics rehabilitation clinic between 2005 - 2008 years, were included. Children’s assessments included: anthropometric measures (height H, recumbent length L, weight W), anthropometric indicators (weight fot length WL, body mass indexBMI) and was ca...

  14. Prevalance of Obesity in Children with Cerebral Palsy

    OpenAIRE

    Bansal, Ankita; Diwan, Shraddha; Diwan, Jasmin; Vyas, Neeta

    2014-01-01

    Introduction: Obesity are epidemic among children and adolescents. There is worldwide tendency of increasing prevalence of obesity in children. Cerebral palsy (CP) is leading cause of childhood disability.studies have proposed mechanism of children with disability leading towards obesity and related health risks. So this study is aimed at determining whether such trend of obesity exists in children with CP in terms of BMI and WHR.

  15. Cerebral Palsy in 1-12 Year Old Children in Southern Iran

    Science.gov (United States)

    INALOO, Soroor; KATIBEH, Pegah; GHASEMOF, Masroor

    2016-01-01

    Objective Cerebral palsy (CP) is a non-progressive CNS disorder due to an insult to the growing brain, usually occurring in the first two years of life. During the recent years, its etiology has been changed; perinatal and postnatal insults are not considered as its main causes in developed countries any more. The aim of this study was to evaluate the causes of CP in children in southern Iran. Materials & Methods Overall, 200 children with CP aged 1-12 yr old referring to Pediatric Neurology Clinic affiliated to Shiraz University of Medical Sciences, Shiraz, Iran between 2012 and 2013 were enrolled. In addition, 200 healthy age and sex-matched children were considered as the control group. Exclusion criteria were isolated movement disorders with no other evidence of CP, progressive neurologic disorders, metabolic disorders, and incomplete or uncertain past history. After collecting the data on pregnancy period, prenatal history and past medical problems, they were analyzed with appropriate statistical methods. Results Maternal age, medical problems during pregnancy period, route of delivery, head circumference at birth, neonatal admission, neonatal jaundice, and prematurity were the main risk factors for CP. Discussion The distribution of risk factors of CP is different from that of developed countries in our region. Pre- and peri-natal etiologies are still among the common causes of CP in Iran. PMID:27057186

  16. Improved Quality of Life in A Case of Cerebral Palsy after Bone Marrow Mononuclear Cell Transplantation

    Directory of Open Access Journals (Sweden)

    Alok Sharma

    2015-07-01

    Full Text Available Cerebral palsy (CP is a non progressive, demyelinating disorder that affects a child’s development and posture and may be associated with sensation, cognition, communication and perception abnormalities. In CP, cerebral white matter is injured resulting in the loss of oligodendrocytes. This causes damage to the myelin and disruption of nerve conduction. Cell therapy is being explored as an alternate therapeutic strategy as there is no treatment currently available for CP. To study the benefits of this treatment we have administered autologous bone marrow mononuclear cells (BMMNCs to a 12-year-old CP case. He was clinically re-evaluated after six months and found to demonstrate positive clinical and functional outcomes. His trunk strength, upper limb control, hand functions, walking stability, balance, posture and coordination improved. His ability to perform activities of daily living improved. On repeating the Functional Independence Measure (FIM, the score increased from 90 to 113. A repeat positron emission tomography- computed tomography (PET-CT scan of the brain six months after intervention showed progression of the mean standard deviation values towards normalization which correlated to the functional changes. At one year, all clinical improvements have remained. This indicated that cell transplantation may improve quality of life and have a potential for treatment of CP.

  17. A 3-year review of cranial nerve palsies from the University of Port Harcourt Teaching Hospital Eye Clinic, Nigeria

    Directory of Open Access Journals (Sweden)

    Chinyere Nnenne Pedro-Egbe

    2014-01-01

    Conclusion: This is the first study in the literature on ocular cranial nerve palsies in Southern Nigeria. Third and sixth cranial nerve palsies were the most common cases to present to the University of Port Harcourt Teaching Hospital Eye Clinic. There was a statistically significant association to systemic disorders such as hypertension and DM and majority of cases with 6 th cranial nerve palsy.

  18. Food pattern and nutritional status of children with cerebral palsy.

    Science.gov (United States)

    Lopes, Patrícia Ayrosa C; Amancio, Olga Maria S; Araújo, Roberta Faria C; Vitalle, Maria Sylvia de S; Braga, Josefina Aparecida P

    2013-09-01

    OBJECTIVES To assess the food intake pattern and the nutritional status of children with cerebral palsy. METHODS Cross-sectional study with 90 children from two to 12.8 years with cerebral palsy in the following forms: hemiplegia, diplegia, and tetraplegia. Nutritional status was assessed by weight, height, and age data. Food intake was verified by the 24-hour recall and food frequency questionnaire. The ability to chew and/or swallowing, intestinal habits, and physical activity were also evaluated. RESULTS For 2-3 year-old age group, the mean energy intake followed the recommended range; in 4-6 year-old age group with hemiplegia and tetraplegia, energy intake was below the recommended limits. All children presented low intake of carbohydrates, adequate intake of proteins and high intake of lipids. The tetraplegia group had a higher prevalence of chewing (41%) and swallowing (12.8%) difficulties compared to 14.5 and 6.6% of children with hemiplegia, respectively. Most children of all groups had a daily intestinal habit. All children presented mild physical activity, while moderate activity was not practiced by any child of the tetraplegia group, which had a significantly lower height/age Z score than those with hemiplegia (-2.14 versus -1.05; p=0.003). CONCLUSIONS The children with cerebral palsy presented inadequate dietary pattern and impaired nutritional status, with special compromise of height. Tetraplegia imposes difficulties regarding chewing/swallowing and moderate physical activity practice.

  19. Hip salvage surgery in cerebral palsy cases: a systematic review.

    Science.gov (United States)

    de Souza, Rafael Carboni; Mansano, Marcelo Valentim; Bovo, Miguel; Yamada, Helder Henzo; Rancan, Daniela Regina; Fucs, Patricia Maria de Moraes Barros; Svartman, Celso; de Assumpção, Rodrigo Montezuma César

    2015-01-01

    Imbalance and muscle spasticity, in association with coxa valga and persistent femoral anteversion, compromises hip development in cases of cerebral palsy and may result in chronic pain and even dislocation. Some of these hips undergo salvage surgery because of the severe impact of their abnormalities in these patients' quality of life. We conducted a systematic review of the literature to compare the results from the main hip salvage techniques applied to these individuals. The literature search focused on studies that evaluated results from hip salvage surgery in cases of cerebral palsy, published from 1970 to 2011, which are present in the Embase, Medline, PubMed, Cochrane Library and SciELO databases. Although the results were not statistically comparable, this systematic review demonstrates that hip salvage surgery should be indicated after individual evaluation on each patient, due to the wide spectrum of presentations of cerebral palsy. Therefore, it seems that no surgical technique is superior to any other. Rather, there are different indications.

  20. Food pattern and nutritional status of children with cerebral palsy

    Directory of Open Access Journals (Sweden)

    Patrícia Ayrosa C. Lopes

    2013-09-01

    Full Text Available OBJECTIVES To assess the food intake pattern and the nutritional status of children with cerebral palsy. METHODS Cross-sectional study with 90 children from two to 12.8 years with cerebral palsy in the following forms: hemiplegia, diplegia, and tetraplegia. Nutritional status was assessed by weight, height, and age data. Food intake was verified by the 24-hour recall and food frequency questionnaire. The ability to chew and/or swallowing, intestinal habits, and physical activity were also evaluated. RESULTS For 2-3 year-old age group, the mean energy intake followed the recommended range; in 4-6 year-old age group with hemiplegia and tetraplegia, energy intake was below the recommended limits. All children presented low intake of carbohydrates, adequate intake of proteins and high intake of lipids. The tetraplegia group had a higher prevalence of chewing (41% and swallowing (12.8% difficulties compared to 14.5 and 6.6% of children with hemiplegia, respectively. Most children of all groups had a daily intestinal habit. All children presented mild physical activity, while moderate activity was not practiced by any child of the tetraplegia group, which had a significantly lower height/age Z score than those with hemiplegia (-2.14 versus -1.05; p=0.003. CONCLUSIONS The children with cerebral palsy presented inadequate dietary pattern and impaired nutritional status, with special compromise of height. Tetraplegia imposes difficulties regarding chewing/swallowing and moderate physical activity practice.

  1. Hip salvage surgery in cerebral palsy cases: a systematic review

    Directory of Open Access Journals (Sweden)

    Rafael Carboni de Souza

    2015-06-01

    Full Text Available Imbalance and muscle spasticity, in association with coxa valga and persistent femoral anteversion, compromises hip development in cases of cerebral palsy and may result in chronic pain and even dislocation. Some of these hips undergo salvage surgery because of the severe impact of their abnormalities in these patients' quality of life. We conducted a systematic review of the literature to compare the results from the main hip salvage techniques applied to these individuals. The literature search focused on studies that evaluated results from hip salvage surgery in cases of cerebral palsy, published from 1970 to 2011, which are present in the Embase, Medline, PubMed, Cochrane Library and SciELO databases. Although the results were not statistically comparable, this systematic review demonstrates that hip salvage surgery should be indicated after individual evaluation on each patient, due to the wide spectrum of presentations of cerebral palsy. Therefore, it seems that no surgical technique is superior to any other. Rather, there are different indications.

  2. Health Care Transition Experiences of Young Adults With Cerebral Palsy.

    Science.gov (United States)

    Carroll, Ellen McLaughlin

    2015-01-01

    Health care transition (HCT) describes the purposeful, planned movement of adolescents from child to adult-orientated care. The purpose of this qualitative study is to uncover the meaning of transition to adult-centered care as experienced by young adults with cerebral palsy (YA-CP) through the research question: What are the lived experiences of young adults with cerebral palsy transitioning from pediatric to adult healthcare? Six females and 3 males, aged 19-25 years of age, who identified as carrying the diagnosis of cerebral palsy without cognitive impairment, were interviewed. Giorgi's (1985) method for analysis of phenomenology was the framework for the study and guided the phenomenological reduction. The meaning of the lived experiences of YA-CPs transition to adult health care is expert novices with evidence and experience-based expectations, negotiating new systems interdependently and accepting less than was expected. More information and support is needed for the YA-CP during transition to ensure a well-organized move to appropriate adult-oriented health care that is considerate of the lifelong impact of the disorder. The nurses' role as advocate, mentor and guide can optimize the individual's response to the transition process.

  3. Impaired Voluntary Movement Control and Its Rehabilitation in Cerebral Palsy.

    Science.gov (United States)

    Gordon, Andrew M

    2016-01-01

    Cerebral palsy is caused by early damage to the developing brain, as the most common pediatric neurological disorder. Hemiplegia (unilateral spastic cerebral palsy) is the most common subtype, and the resulting impairments, lateralized to one body side, especially affect the upper extremity, limiting daily function. This chapter first describes the pathophysiology and mechanisms underlying impaired upper extremity control of cerebral palsy. It will be shown that the severity of impaired hand function closely relates to the integrity of the corticospinal tract innervating the affected hand. It will also shown that the developing corticospinal tract can reorganize its connectivity depending on the timing and location of CNS injury, which also has implications for the severity of hand impairments and rehabilitation. The mechanisms underlying impaired motor function will be highlighted, including deficits in movement execution and planning and sensorimotor integration. It will be shown that despite having unimanual hand impairments, bimanual movement control deficits and mirror movements also impact function. Evidence for motor learning-based therapies including Constraint-Induced Movement Therapy and Bimanual Training, and the possible pathophysiological predictors of treatment outcome and plasticity will be described. Finally, future directions for rehabilitations will be presented.

  4. Effectiveness of Neurogenesis in treating Children with Cerebral Palsy

    Directory of Open Access Journals (Sweden)

    Susan AMIRSALARI

    2012-06-01

    Full Text Available How to Cite this Article: Amirsalary S, Dehghan L, Dalvand H, Haghgoo H. Effectiveness of Neurogenesis in treating children with Cerebral Palsy. Iran J Child Neurol 2012;6(2:1-8. objectiveTissue-specific stem cells divide to generate different cell types for the purpose oftissue repair in the adult. The aim of this study was to detect the significance ofneurogenesis in the central nervous system in patients with cerebral palsy (CP.Materials & MethodsA search was made in Medline, CINAHL, PubMed, ISI Web of Science andGoogle Scholar from 1995 to February 2011. The outcomes measured in thereview were classified to origins, proliferation, and migration of new neurons,and neurogenesis in CP.ResultsAccording to the review of articles, neurogenesis persists in specific brainregions throughout lifetime and can be enhanced from endogenous progenitorcells residing in the subventricular zone by growth factors or neurotrophicfactors and rehabilitation program.ConclusionMost of the studies have been conducted in the laboratory and on animals,more work is required at the basic level of stem cell biology, in the developmentof human models, and finally in well-conceived clinical trials. References1. Buonomano DV, Merzenich MM. Cortical plasticity: from synapses to maps. Annu Rev Neurosci 1998; 21:149-86.2. Haghgoo H. Fundemental of neurosciences. 1st ed. Tehran; USWR Press; 2011.3. Payne BR, Lomber SG. Reconstructing functional systems after lesions of cerebral cortex. Nat Rev Neurosci 2001 Dec;2(12:911-9.4. Bax M, Goldstein M, Rosenbaum P, Leviton A, Paneth N, Dan B, et al. Proposed definition and classification of cerebral palsy. Dev Med Child Neurol 2005 Apr;47(8:571-6.5. Joghataei M, Kazem M. Barresi sathe niazhaie jamee be khadamate behzisti colle keshvar [persian].Tehran: University of. Social Welfare and Rehabilitation Sciences; 1990.6. Johnson A. Prevalence and characteristics of children with cerebral palsy in Europe. Dev Med Child Neurol

  5. The Danish Cerebral Palsy Registry. A registry on a specific impairment

    DEFF Research Database (Denmark)

    Uldall, P; Michelsen, S I; Topp, M;

    2001-01-01

    Cerebral palsy (CP) is the commonest disabling impairment in childhood, with a prevalence of 2-3 per 1000 live births. The Danish Cerebral Palsy Registry is a research registry that contains cases of CP from birth year 1925 and has estimated the birth prevalence since 1950. Data on children with CP...

  6. Volumetric Magnetic Resonance Imaging Study of Brain and Cerebellum in Children with Cerebral Palsy

    Science.gov (United States)

    Maciorkowska, Elżbieta; Gościk, Elżbieta

    2016-01-01

    Introduction. Quantitative magnetic resonance imaging (MRI) studies are rarely used in the diagnosis of patients with cerebral palsy. The aim of present study was to assess the relationships between the volumetric MRI and clinical findings in children with cerebral palsy compared to control subjects. Materials and Methods. Eighty-two children with cerebral palsy and 90 age- and sex-matched healthy controls were collected. Results. The dominant changes identified on MRI scans in children with cerebral palsy were periventricular leukomalacia (42%) and posthemorrhagic hydrocephalus (21%). The total brain and cerebellum volumes in children with cerebral palsy were significantly reduced in comparison to controls. Significant grey matter volume reduction was found in the total brain in children with cerebral palsy compared with the control subjects. Positive correlations between the age of the children of both groups and the grey matter volumes in the total brain were found. Negative relationship between width of third ventricle and speech development was found in the patients. Positive correlations were noted between the ventricles enlargement and motor dysfunction and mental retardation in children with cerebral palsy. Conclusions. By using the voxel-based morphometry, the total brain, cerebellum, and grey matter volumes were significantly reduced in children with cerebral palsy. PMID:27579318

  7. TORSIONAL DEFORMITIES OF LOWER LIMBS IN PATIENTS WITH INFANTILE CEREBRAL PALSY (LITERATURE REVIEW

    Directory of Open Access Journals (Sweden)

    Никита Олегович Хусаинов

    2014-03-01

    Full Text Available The article highlights the literature devoted to the problem of torsional deformities of the lower limbs in patients with infantile cerebral palsy. It also describes biomechanical features peculiar to the patients with infantile cerebral palsy, as well as long-term results of performed surgical interventions.

  8. Clinical observation on common peroneal nerve palsy treated with comprehensive therapy

    Institute of Scientific and Technical Information of China (English)

    杨丽娟

    2014-01-01

    Objective To compare the difference of the clinical efficacy on common peroneal nerve palsy between the comprehensive therapy of electroacupuncture,moxibustion and moving cupping method and western medication.Methods Ninety cases of common peroneal nerve palsy were randomized into a comprehensive therapy group and a western medication group,45 cases in each

  9. Quantifying the physical, social and attitudinal environment of children with cerebral palsy

    DEFF Research Database (Denmark)

    Dickinson, Heather O; Colver, Allan; Michelsen, Susan Ishøy

    2011-01-01

    To develop an instrument to represent the availability of needed environmental features (EFs) in the physical, social and attitudinal environment of home, school and community for children with cerebral palsy.......To develop an instrument to represent the availability of needed environmental features (EFs) in the physical, social and attitudinal environment of home, school and community for children with cerebral palsy....

  10. Pain in young people aged 13 to 17 years with cerebral palsy

    DEFF Research Database (Denmark)

    Parkinson, Kathryn N; Dickinson, Heather O; Arnaud, Catherine;

    2013-01-01

    To determine the prevalence and associations of self- and parent-reported pain in young people with cerebral palsy (CP).......To determine the prevalence and associations of self- and parent-reported pain in young people with cerebral palsy (CP)....

  11. Epilepsy and cerebral palsy: characteristics and trends in children born in 1976-1998

    DEFF Research Database (Denmark)

    Sellier, Elodie; Uldall, Peter; Calado, Eulalia;

    2012-01-01

    Although epilepsy is common in children with cerebral palsy (CP), no data exists on prevalence rates of CP and epilepsy.......Although epilepsy is common in children with cerebral palsy (CP), no data exists on prevalence rates of CP and epilepsy....

  12. Parents of children with cerebral palsy : a review of factors related to the process of adaptation

    NARCIS (Netherlands)

    Rentinck, I. C. M.; Ketelaar, M.; Jongmans, M. J.; Gorter, J. W.

    2007-01-01

    Background Little is known about the way parents adapt to the situation when their child is diagnosed with cerebral palsy. Methods A literature search was performed to gain a deeper insight in the process of adaptation of parents with a child with cerebral palsy and on factors related to this proces

  13. Psychological Problems in Children with Cerebral Palsy: A Cross-Sectional European Study

    Science.gov (United States)

    Parkes, Jackie; White-Koning, Melanie; Dickinson, Heather O.; Thyen, Ute; Arnaud, Catherine; Beckung, Eva; Fauconnier, Jerome; Marcelli, Marco; McManus, Vicki; Michelsen, Susan I.; Parkinson, Kathryn; Colver, Allan

    2008-01-01

    Objectives: To describe psychological symptoms in 8-12-year-old children with cerebral palsy; to investigate predictors of these symptoms and their impact on the child and family. Design: A cross-sectional multi-centre survey. Participants: Eight hundred and eighteen children with cerebral palsy, aged 8-12 years, identified from population-based…

  14. Arithmetic Difficulties in Children with Cerebral Palsy Are Related to Executive Function and Working Memory

    Science.gov (United States)

    Jenks, Kathleen M.; de Moor, Jan; van Lieshout, Ernest C. D. M.

    2009-01-01

    Background: Although it is believed that children with cerebral palsy are at high risk for learning difficulties and arithmetic difficulties in particular, few studies have investigated this issue. Methods: Arithmetic ability was longitudinally assessed in children with cerebral palsy in special (n = 41) and mainstream education (n = 16) and…

  15. "I Do Lots of Things": Children with Cerebral Palsy's Competence for Everyday Activities

    Science.gov (United States)

    Kramer, Jessica M.; Hammel, Joy

    2011-01-01

    This study explored how children with cerebral palsy describe competent performance in everyday activities and sought to better understand the processes by which the children developed competence. Five children with cerebral palsy aged six to 17 years participated in a three-step procedure that included two observations, one semi-structured…

  16. Position as a Cause of Deformity in Children with Cerebral Palsy (1976)

    Science.gov (United States)

    Scrutton, David

    2008-01-01

    Deformities in the child with cerebral palsy have been ascribed to muscle imbalance (Sharrard 1961) and increased tone (Pollock 1959) or to the type of cerebral palsy (Bobath and Bobath 1975). As far as we know, the position in which the child is nursed, especially during the first year of life, has not been considered as a cause of deformity. It…

  17. Preterm birth and cerebral palsy. Predictive value of pregnancy complications, mode of delivery, and Apgar scores

    DEFF Research Database (Denmark)

    Topp, Monica Wedell; Langhoff-Roos, J; Uldall, P

    1997-01-01

    .01), and low Apgar scores at 1 minute (45% vs. 36%, p or = 3 (adjusted OR = 1.53 (95% CI 1.00-2.34), p ... complications preceding preterm birth did not imply a higher risk of cerebral palsy. Delivery by Cesarean section was a prognostic factor for developing cerebral palsy, and the predictive value of Apgar scores was highly limited....

  18. Arithmetic difficulties in children with cerebral palsy are related to executive function and working memory.

    NARCIS (Netherlands)

    Jenks, K.M.; Moor, J.M.H. de; Lieshout, E.C. van

    2009-01-01

    BACKGROUND: Although it is believed that children with cerebral palsy are at high risk for learning difficulties and arithmetic difficulties in particular, few studies have investigated this issue. METHODS: Arithmetic ability was longitudinally assessed in children with cerebral palsy in special (n

  19. Arithmetic difficulties in children with cerebral palsy are related to executive function and working memory

    NARCIS (Netherlands)

    Jenks, K.M.; Moor, J.M.H. de; Lieshout, E.C.D.M. van

    2009-01-01

    Background: Although it is believed that children with cerebral palsy are at high risk for learning difficulties and arithmetic difficulties in particular, few studies have investigated this issue. Methods: Arithmetic ability was longitudinally assessed in children with cerebral palsy in special (n

  20. PERIPHERAL FACIAL PALSY IN CHILDHOOD - LYME BORRELIOSIS TO BE SUSPECTED UNLESS PROVEN OTHERWISE

    NARCIS (Netherlands)

    CHRISTEN, HJ; BARTLAU, N; HANEFELD, F; EIFFERT, H; THOMSSEN, R

    1990-01-01

    27 consecutive cases with acute peripheral facial palsy were studied for Lyme borreliosis. In 16 out of 27 children Lyme borreliosis could be diagnosed by detection of specific IgM antibodies in CSF. CSF findings allow a clear distinction according to etiology. All children with facial palsy due to

  1. Intensive Dysarthria Therapy for Older Children with Cerebral Palsy: Findings from Six Cases

    Science.gov (United States)

    Pennington, Lindsay; Smallman, Claire; Farrier, Faith

    2006-01-01

    Children with cerebral palsy often have speech, language and communication difficulties that affect their access to social and educational activities. Speech and language therapy to improve the intelligibility of the speech of children with cerebral palsy has long been advocated, but there is a dearth of research investigating therapy…

  2. Cranial nerve palsy in Wegener's granulomatosis--lessons from clinical cases

    DEFF Research Database (Denmark)

    Nowack, Rainer; Wachtler, Paul; Kunz, Jürgen;

    2009-01-01

    The problem of diagnosing vasculitic neuropathy is discussed based on case reports of two patients with Wegener's granulomatosis. One patient developed de novo 6(th) nerve palsy as an isolated relapse manifestation and the second patient a sequence of multiple cranial nerve palsies. Brain imaging...

  3. Self-reported quality of life of adolescents with cerebral palsy

    DEFF Research Database (Denmark)

    Colver, Allan; Rapp, Marion; Eisemann, Nora

    2015-01-01

    BACKGROUND: Children with cerebral palsy who can self-report have similar quality of life (QoL) to their able-bodied peers. Is this similarity also found in adolescence? We examined how self-reported QoL of adolescents with cerebral palsy varies with impairment and compares with the general popul...

  4. COMPARISON OF MUSCLE STRENGTH, SPRINT POWER AND AEROBIC CAPACITY IN ADULTS WITH AND WITHOUT CEREBRAL PALSY

    NARCIS (Netherlands)

    de Groot, Sonja; Dallmeijer, Annet J.; Bessems, Paul J. C.; Lamberts, Marcel L.; van der Woude, Lucas H. V.; Janssen, Thomas W. J.

    2012-01-01

    Objective: To compare: (i) muscle strength, sprint power and maximal aerobic capacity; and (ii) the correlations between these variables in adults with and without cerebral palsy. Design: Cross-sectional study. Subjects: Twenty adults with and 24 without cerebral palsy. Methods: Isometric and isokin

  5. Psychological problems in children with cerebral palsy: a cross-sectional European study

    DEFF Research Database (Denmark)

    Parkes, Jackie; White-Koning, Melanie; Dickinson, Heather O

    2008-01-01

    '. CONCLUSIONS: A significant proportion of children with cerebral palsy have psychological symptoms or social impairment sufficiently severe to warrant referral to specialist services. Care must be taken in the assessment and management of children with cerebral palsy to ensure psychological problems...

  6. Effect of Translucency on Transparency and Symbol Learning for Children with and without Cerebral Palsy

    Science.gov (United States)

    Huang, Chih-Hsiung; Chen, Ming-Chung

    2011-01-01

    Based on the concept of iconicity, the iconicity hypothesis was emphasized for decades. The aims of this study were to explore the effect of translucency on transparency and symbol learning for children with and without cerebral palsy. Twenty children with cerebral palsy and forty typical peers participated in the study. Ten symbols with high…

  7. European study of frequency of participation of adolescents with and without cerebral palsy.

    Science.gov (United States)

    Michelsen, Susan I; Flachs, Esben M; Damsgaard, Mogens T; Parkes, Jacqueline; Parkinson, Kathryn; Rapp, Marion; Arnaud, Catherine; Nystrand, Malin; Colver, Allan; Fauconnier, Jerome; Dickinson, Heather O; Marcelli, Marco; Uldall, Peter

    2014-05-01

    Children with cerebral palsy participate less in everyday activities than children in the general populations. During adolescence, rapid physical and psychological changes occur which may be more difficult for adolescents with impairments. Within the European SPARCLE project we measured frequency of participation of adolescents with cerebral palsy by administering the Questionnaire of Young People's Participation to 667 adolescents with cerebral palsy or their parents from nine European regions and to 4666 adolescents from the corresponding general populations. Domains and single items were analysed using respectively linear and logistic regression. Adolescents with cerebral palsy spent less time with friends and had less autonomy in their daily life than adolescents in the general populations. Adolescents with cerebral palsy participated much less in sport but played electronic games at least as often as adolescents in the general populations. Severity of motor and intellectual impairment had a significant impact on frequency of participation, the more severely impaired being more disadvantaged. Adolescents with an only slight impairment participated in some domains as often as adolescents in the general populations. Regional variation existed. For example adolescents with cerebral palsy in central Italy were most disadvantaged according to decisional autonomy, while adolescents with cerebral palsy in east Denmark and northern England played sports as often as their general populations. Participation is an important health outcome. Personal and environmental predictors of participation of adolescents with cerebral palsy need to be identified in order to design interventions directed to such predictors; and in order to inform the content of services.

  8. The Cerebral Palsy Quality of Life for Children (CP QOL-Child): Evidence of Construct Validity

    Science.gov (United States)

    Chen, Kuan-Lin; Wang, Hui-Yi; Tseng, Mei-Hui; Shieh, Jeng-Yi; Lu, Lu; Yao, Kai-Ping Grace; Huang, Chien-Yu

    2013-01-01

    The Cerebral Palsy Quality of Life for Children (CP QOL-Child) is the first health condition-specific questionnaire designed for measuring QOL in children with cerebral palsy (CP). However, its construct validity has not yet been confirmed by confirmatory factor analysis (CFA). Hence, this study assessed the construct validity of the caregiver…

  9. Theory of Mind and Irony Comprehension in Children with Cerebral Palsy

    Science.gov (United States)

    Caillies, Stephanie; Hody, Anais; Calmus, Arnaud

    2012-01-01

    The main goal of the present study was to characterise the pragmatic abilities of French children with cerebral palsy through their understanding of irony and other people's mental states. We predicted that children with cerebral palsy would have difficulty understanding false-belief and ironic remarks, due to the executive dysfunction that…

  10. Electropalatography in the Description and Treatment of Speech Disorders in Five Children with Cerebral Palsy

    Science.gov (United States)

    Nordberg, Ann; Carlsson, Goran; Lohmander, Anette

    2011-01-01

    Some children with cerebral palsy have articulation disorders that are resistant to conventional speech therapy. The aim of this study was to investigate whether the visual feedback method of electropalatography (EPG) could be an effective tool for treating five children (mean age of 9.4 years) with dysarthria and cerebral palsy and to explore…

  11. Effects of Frequency of Feedback on the Learning of Motor Skill in Individuals with Cerebral Palsy

    Science.gov (United States)

    Hemayattalab, Rasool; Rostami, Leila Rashidi

    2010-01-01

    The purpose of this study was to investigate the effect of frequency of knowledge of results (KR) on the learning of dart in individuals with cerebral palsy type I. Twenty-four individuals with cerebral palsy (CP) between the ages of 5 and 17 were chosen for this study. They were put into 3 homogenous groups according to their records after 20…

  12. [Animal models of neurodegenerative diseases on the road to disease-modifying therapy: spinal and bulbar muscular atrophy].

    Science.gov (United States)

    Sobue, Gen

    2007-11-01

    SBMA is a hereditary neurodegenerative disease caused by expansion of a trinucleotide CAG repeat, which encodes the polyglutamine tract, in the first exon of the androgen receptor (AR) gene. The phenotypic difference with gender, which is a specific feature of SBMA, has been recapitulated in a transgenic mouse model of SBMA expressing the full-length human AR containing 97 CAGs under the control of a cytomegalovirus enhancer and a chicken beta-actin promoter (AR-97Q). Affected SBMA mice demonstrate small body size, short life span, progressive muscle atrophy and weakness as well as reduced cage activity, all of which are markedly pronounced and accelerated in the male SBMA mice, but either not observed or far less severe in the female SBMA mice. There is increasing evidence that testosterone, the ligand of AR, plays a pivotal role in the neurodegeneration in SBMA. The striking success of androgen deprivation therapy in SBMA mouse models has been translated into phase 2, and then phase 3, clinical trials. Moreover, animal studies have also been revealing key molecules in the pathogenesis of SBMA such as heat shock proteins, transcriptional co-activators, and axon motors, suggesting additional therapeutic targets.

  13. 人胚胎神经干细胞移植治疗脑瘫患儿的临床研究%Clinical research of Human embryonic stem cell transplantation for treatment of cerebral palsy

    Institute of Scientific and Technical Information of China (English)

    张晓英; 侯成智

    2012-01-01

    Objective; Cerebral palsy is perinatal acquired progressive encephalopathy caused by congenital movement disorders and abnormal postures disease. International cerebral palsy risk for 1% -5%. China's cerebral palsy risk for 1. 8% -4% , An annual increase of 400 000 children patients with cerebral palsy in China. Cerebral palsy have currently no effective treatment methods, In recent years, there are more and more embryonic cells derived neural stem cell for the treatment of cerebral palsy research, provide a broad space to the treatment of cerebral palsy. Embryonic stem cell derived neural stem cells in morphology and function are the same with neuronal properties, With host neurons cell synapses connect, Receiving the impulse of host cell, get together with Patient's brain, achieve the function of regeneration, Treat cerebral palsy Fundamentally. The purpose of the topic is to discuss the possibility, safety and effectiveness of Human embryonic stem cell transplantation for treatment of cerebral palsy. Methods; Extract of fetal's brain tissue, In vitro differentiation and induce to the neural stem cells. Transplant the P2-51 -5× 105-8 neural stem cells to human's brain with Lumbar puncture puncture or the puncture of carotid artery. 3 -4times in one course of a treatment, Interval a week, 2-3 courses of treatment in one year. Results; There are 25 cases of cerebral palsy patients in clinical treatment, 23 cases Improve, 2 cases invalid. Conclusions; Transplantation in the treatment of cerebral palsy with Human embryonic neural stem cell is safe and Effective.%目的 脑瘫是围产期获得性非进行性脑病导致的先天性运动障碍及姿势异常疾病或综合征.国际上脑瘫的发病率为1%~5%,我国脑瘫的发病率为1.8%~4%,每年新增小儿脑瘫患儿40万.脑瘫目前还无有效的治疗手段.近年来,神经干细胞移植治疗脑瘫的研究越来越多,提供了广阔的空间.人胚胎细胞来源的神经干细胞在形

  14. Theory of mind and irony comprehension in children with cerebral palsy.

    Science.gov (United States)

    Caillies, Stéphanie; Hody, Anaïs; Calmus, Arnaud

    2012-01-01

    The main goal of the present study was to characterise the pragmatic abilities of French children with cerebral palsy through their understanding of irony and other people's mental states. We predicted that children with cerebral palsy would have difficulty understanding false-belief and ironic remarks, due to the executive dysfunction that accompanies the motor disorders of cerebral palsy. We conducted an experiment in which children with cerebral palsy and typically developing matched controls performed theory-of-mind and executive function tasks. They then listened to ironic stories and answered questions about the speakers' beliefs and attitudes. The groups differed significantly on second-order theory of mind, irony comprehension and working memory, indicating pragmatic difficulties in children with cerebral palsy.

  15. Public health issues related to infection in pregnancy and cerebral palsy

    DEFF Research Database (Denmark)

    Schendel, Diana E.; Schuchat, Anne; Thorsen, Poul

    2002-01-01

    Cerebral palsy is the most common neuromotor developmental disability of childhood, affecting as many as 8,000 to 12,000 children born in the U.S. each year (corresponding to a prevalence rate of between 2 and 3 per 1000 children). Recent improvements in neonatal care have not resulted in a decline...... in the overall prevalence of cerebral palsy and, in fact, greater numbers of very preterm/very low birth weight infants are surviving with cerebral palsy and other developmental problems. Infection in pregnancy may be an important cause of the disorder. In preterm infants, there appears to be about a 2-fold...... inflammation typically associated with infection also suggest that an inflammatory response may be an important independent etiologic factor. If a substantial proportion of cerebral palsy is attributable to acute amnionitis infection and/or neonatal sepsis, cerebral palsy should have decreased in the United...

  16. The prognostic value of concurrent Horner syndrome in extended Erb obstetric brachial plexus palsy.

    Science.gov (United States)

    El-Sayed, Amel A F

    2014-10-01

    Horner syndrome may be seen in infants with extended Erb obstetric brachial plexus palsy. However, its prognostic value in these infants has not been previously investigated. A total of 220 infants with extended Erb palsy were included and divided into 2 groups: group I (n = 209) were infants with extended Erb palsy without Horner syndrome, and group II (n = 11) were infants with extended Erb palsy and concurrent Horner syndrome. The rate of good spontaneous recovery of elbow flexion was 59% in group I and 27% in group II, and the difference was significant (P = .038). The rate of good spontaneous recovery of wrist extension was 61% in group I and 0% in group II, and the difference as highly significant (P Horner syndrome in infants with extended Erb palsy may be considered as a poor prognostic sign for recovery of the sixth and seventh cervical roots.

  17. Cranial nerves palsy as an initial feature of an early onset distal hereditary motor neuropathy--a new distal hereditary motor neuropathy phenotype.

    Science.gov (United States)

    Haberlová, J; Claeys, K G; De Jonghe, P; Seeman, P

    2009-06-01

    Distal hereditary motor neuropathy is a heterogeneous group of disorders characterised by a pure motor axonal neuropathy. It is occasionally associated with additional signs such as facial weakness, vocal cord paralysis, weakness of the diaphragm, and pyramidal signs. Although predominantly the inheritance is autosomal dominant, all types of inheritance have been described. Here we report a Czech family with cranial nerves palsy as an initial feature of a non progressive infantile onset dominant distal hereditary motor neuropathy. This family may represent a new subtype of distal hereditary motor neuropathy.

  18. Clinical efficacy of oxygen atomization inhalation in treatment of bulbar paralysis bulbar paralysis patients complicated with pulmonary infections%氧气雾化吸入对球麻痹伴肺部感染患者的临床疗效研究

    Institute of Scientific and Technical Information of China (English)

    徐华燕; 韩春赓; 谢江文; 吴斌; 吕国菊

    2016-01-01

    目的:探讨氧气雾化吸入对球麻痹伴肺部感染患者的临床疗效,为治疗提供参考依据。方法选取2011年2月-2016年2月医院收治的球麻痹合并肺部感染患者80例,根据治疗方法不同将其分为观察组与对照组,每组40例;对照组患者采用常规对症治疗,观察组患者在采用常规对症治疗的基础上给予氧气雾化吸入治疗,对两组患者的临床治疗情况进行比较。结果观察组患者治疗有效率为87.5%,对照组为67.5%,观察组治疗有效率明显高于对照组,差异有统计学意义(P<0.05);与对照组比较,观察组患者痰液明显减少,痰液性状明显好转,呼吸音明显改善,且睡眠质量明显提高,两组间比较差异有统计学意义(P<0.05)。结论氧气雾化吸入治疗对球麻痹伴肺部感染患者具有显著的临床疗效,能够明显减少痰液,改善呼吸音及睡眠,在提高患者睡眠质量方面具有明显效果,临床上值得推广应用。%OBJECTIVE To explore the clinical efficacy of oxygen atomization inhalation in treatment of bulbar pa‐ralysis patients complicated with pulmonary infections so as to provide guidance for clinical treatment .METHODS A total of 80 bulbar paralysis patients complicated with pulmonary infections who were treated in hospitals from Feb 2011 to Feb 2016 were enrolled in the study and divided into the observation group and the control group ac‐cording to the treatment method ,with 40 cases in each group .The control group was treated with conventional symptomatic therapy ,while the observation group was given oxygen atomization inhalation therapy based on the conventional symptomatic therapy .The status of clinical treatment was observed and compared between the two groups of patients .RESULTS The effective rate of treatment of the observation group was 87 .5% ,significantly higher than 67 .5% of the control group(P<0 .05) .As

  19. Recurrent isolated oculomotor nerve palsy after radiation of a mesencephalic metastasis. Case report and mini-review.

    Directory of Open Access Journals (Sweden)

    Olga eGrabau

    2014-07-01

    Full Text Available Introduction: Recurrent oculomotor nerve palsies are extremely rare clinical conditions. Case report: Here, we report on a unique case of a short-lasting recurrent unilateral incomplete external and complete internal oculomotor nerve palsy. The episodic palsies were probably caused by an ipsilateral mesencephalic metastasis of a breast carcinoma and occurred after successful brain radiation therapy. Discussion: While the pathogenic mechanism remains unclear, the recurrent sudden onset and disappearance of the palsies and their decreasing frequency after antiepileptic treatment suggest the occurrence of epilepsy-like brainstem seizures. A review of case reports of spontaneous reversible oculomotor nerve palsies is presented.

  20. Explosive Resistance Training Increases Rate of Force Development in Ankle Dorsiflexors and Gait Function in Adults With Cerebral Palsy.

    Science.gov (United States)

    Kirk, Henrik; Geertsen, Svend S; Lorentzen, Jakob; Krarup, Kasper B; Bandholm, Thomas; Nielsen, Jens B

    2016-10-01

    Kirk, H, Geertsen, SS, Lorentzen, J, Krarup, KB, Bandholm, T, and Nielsen, JB. Explosive resistance training increases rate of force development in ankle dorsiflexors and gait function in adults with cerebral palsy. J Strength Cond Res 30(10): 2749-2760, 2016-Alterations in passive elastic properties of muscles and reduced ability to quickly generate muscle force contribute to impaired gait function in adults with cerebral palsy (CP). In this study, we investigated whether 12 weeks of explosive and progressive heavy-resistance training (PRT) increases rate of force development of ankle dorsiflexors (RFDdf), improves gait function, and affects passive ankle joint stiffness in adults with CP. Thirty-five adults (age: 36.5; range: 18-59 years) with CP were nonrandomly assigned to a PRT or nontraining control (CON) group in this explorative trial. The PRT group trained ankle dorsiflexion, plantarflexion, leg press, hamstring curls, abdominal curls, and back extension 3 days per week for 12 weeks, with 3 sets per exercise and progressing during the training period from 12 to 6 repetition maximums. RFDdf, 3-dimensional gait analysis, functional performance, and ankle joint passive and reflex-mediated muscle stiffness were evaluated before and after. RFDdf increased significantly after PRT compared to CON. PRT also caused a significant increase in toe lift late in swing and a significantly more dorsiflexed ankle joint at ground contact and during stance. The increased toe-lift amplitude was correlated to the increased RFDdf (r = 0.73). No other between-group differences were observed. These findings suggest that explosive PRT may increase RFDdf and facilitate larger range of movement in the ankle joint during gait. Explosive PRT should be tested in clinical practice as part of a long-term training program for adults with CP.