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Sample records for rapid-onset dystonia parkinsonism

  1. Genetics Home Reference: rapid-onset dystonia parkinsonism

    Science.gov (United States)

    ... parkinsonism have been diagnosed with anxiety, social phobias, depression, and seizures. It is unclear whether these disorders are related to the genetic changes that cause rapid-onset dystonia parkinsonism . Related ...

  2. Sporadic rapid-onset dystonia-parkinsonism presenting as Parkinson's disease

    NARCIS (Netherlands)

    Kamphuis, Daan J.; Koelman, Hans; Lees, Andrew J.; Tijssen, Marina A. J.

    2006-01-01

    We report on a 38-year-old patient with rapid-onset dystonia-parkinsonism (RDP) with a missense mutation in the Na/K-ATPase alpha3 subunit (ATP1A3). Asymmetrical parkinsonian symptoms evolved over a year. After a stable episode of another 2.5 years, overnight he developed oromandibular dystonia and

  3. Sporadic rapid-onset dystonia-parkinsonism presenting as Parkinson's disease

    NARCIS (Netherlands)

    Kamphuis, DJ; Koelman, H; Lees, AJ; Tijssen, MAJ

    We report on a 38-year-old patient with rapid-onset dystonia-parkinsonism (RDP) with a missense mutation in the Na/K-ATPase alpha 3 subunit (ATP1A3). Asymmetrical parkinsonian symptoms evolved over a year. After a stable episode of another 2.5 years, overnight he developed oromandibular dystonia and

  4. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATPIA3 gene

    NARCIS (Netherlands)

    Brashear, Allison; Dobyns, William B.; Aguiar, Patricia de Carvalho; Borg, Michel; Frijns, C. J. M.; Gollamudi, Seema; Green, Andrew; Guimaraes, Joao; Haake, Bret C.; Klein, Christine; Linazasoro, Gurutz; Muenchau, Alexander; Raymond, Deborah; Riley, David; Saunders-Pullman, Rachel; Tijssen, Marina A. J.; Webb, David; Zaremba, Jacek; Bressman, Susan B.; Ozelius, Laurie J.

    2007-01-01

    Rapid-onset dystonia-parkinsonism (RDP) (also known as DYT12) is characterized by the abrupt onset of dystonia and parkinsonism and is caused by mutations in the ATP1A3 gene. We obtained clinical data and sequenced the ATP1A3 gene in 49 subjects from 21 families referred with 'possible' RDP, and

  5. The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

    NARCIS (Netherlands)

    Brashear, Allison; Dobyns, William B.; de Carvalho Aguiar, Patricia; Borg, Michel; Frijns, C. J. M.; Gollamudi, Seema; Green, Andrew; Guimaraes, João; Haake, Bret C.; Klein, Christine; Linazasoro, Gurutz; Münchau, Alexander; Raymond, Deborah; Riley, David; Saunders-Pullman, Rachel; Tijssen, Marina A. J.; Webb, David; Zaremba, Jacek; Bressman, Susan B.; Ozelius, Laurie J.

    2007-01-01

    Rapid-onset dystonia-parkinsonism (RDP) (also known as DYT12) is characterized by the abrupt onset of dystonia and parkinsonism and is caused by mutations in the ATP1A3 gene. We obtained clinical data and sequenced the ATP1A3 gene in 49 subjects from 21 families referred with 'possible' RDP, and

  6. Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.

    Science.gov (United States)

    Boelman, Cyrus; Lagman-Bartolome, Ana Marissa; MacGregor, Daune L; McCabe, Jane; Logan, Willam J; Minassian, Berge A

    2014-12-01

    Alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism are two separate movement disorders with different dominant mutations in the same sodium-potassium transporter ATPase subunit gene, ATP1A3. We present a child with topiramate-responsive alternating hemiplegia of childhood who was tested for an ATP1A3 gene mutation. Gene sequencing revealed an identical ATP1A3 mutation as in three typical adult-onset rapid-onset dystonia parkinsonism cases but never previously described in an alternating hemiplegia of childhood case. The discordance of these phenotypes suggests that there are other undiscovered environmental, genetic, or epigenetic factors influencing the development of alternating hemiplegia of childhood or rapid-onset dystonia parkinsonism. Copyright © 2014 Elsevier Inc. All rights reserved.

  7. "ATP1A3" Mutations in Infants: A New Rapid-Onset Dystonia-Parkinsonism Phenotype Characterized by Motor Delay and Ataxia

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    Brashear, Allison; Mink, Jonathan W.; Hill, Deborah F.; Boggs, Niki; McCall, W. Vaughn; Stacy, Mark A.; Snively, Beverly; Light, Laney S.; Sweadner, Kathleen J.; Ozelius, Laurie J.; Morrison, Leslie

    2012-01-01

    We report new clinical features of delayed motor development, hypotonia, and ataxia in two young children with mutations (R756H and D923N) in the "ATP1A3" gene. In adults, mutations in "ATP1A3" cause rapid-onset dystonia-Parkinsonism (RDP, DYT12) with abrupt onset of fixed dystonia. The parents and children were examined and videotaped, and…

  8. Aberrant Purkinje cell activity is the cause of dystonia in a shRNA-based mouse model of Rapid Onset Dystonia-Parkinsonism.

    Science.gov (United States)

    Fremont, Rachel; Tewari, Ambika; Khodakhah, Kamran

    2015-10-01

    Loss-of-function mutations in the α3 isoform of the sodium pump are responsible for Rapid Onset Dystonia-Parkinsonism (RDP). A pharmacologic model of RDP replicates the most salient features of RDP, and implicates both the cerebellum and basal ganglia in the disorder; dystonia is associated with aberrant cerebellar output, and the parkinsonism-like features are attributable to the basal ganglia. The pharmacologic agent used to generate the model, ouabain, is selective for sodium pumps. However, close to the infusion sites in vivo it likely affects all sodium pump isoforms. Therefore, it remains to be established whether selective loss of α3-containing sodium pumps replicates the pharmacologic model. Moreover, while the pharmacologic model suggested that aberrant firing of Purkinje cells was the main cause of abnormal cerebellar output, it did not allow the scrutiny of this hypothesis. To address these questions RNA interference using small hairpin RNAs (shRNAs) delivered via adeno-associated viruses (AAV) was used to specifically knockdown α3-containing sodium pumps in different regions of the adult mouse brain. Knockdown of the α3-containing sodium pumps mimicked both the behavioral and electrophysiological changes seen in the pharmacologic model of RDP, recapitulating key aspects of the human disorder. Further, we found that knockdown of the α3 isoform altered the intrinsic pacemaking of Purkinje cells, but not the neurons of the deep cerebellar nuclei. Therefore, acute knockdown of proteins associated with inherited dystonias may be a good strategy for developing phenotypic genetic mouse models where traditional transgenic models have failed to produce symptomatic mice. Copyright © 2015 Elsevier Inc. All rights reserved.

  9. Mutations Phe785Leu and Thr618Met in Na+, K+-ATPase, Associated with Familial Rapid-Onset Dystonia Parkinsonism, Interfere with Na+ Interaction by Distinct Mechanisms

    DEFF Research Database (Denmark)

    Schack, Vivien Rodacker; Toustrup-Jensen, Mads Schak; Vilsen, Bente

    The Na+, K+-ATPase plays key roles in brain function. Recently, missense mutations in the Na+, K+-ATPase were found associated with familial rapid-onset dystonia parkinsonism (FRDP). We have characterized the functional consequences of FRDP mutations Phe785Leu and Thr618Met. Both mutations lead...... function of the side chain, as well as its exact position, is critical for Na+ and ouabain binding. The effects of substituting Phe785 could be explained by structural modeling, demonstrating that Phe785 participates in a hydrophobic network between three transmembrane segments. Thr618 is located...

  10. Mutations Phe785Leu and Thr618Met in Na+, K+-ATPase, Associated with Familial Rapid-Onset Dystonia Parkinsonism, Interfere with Na+ Interaction by Distinct Mechanisms

    DEFF Research Database (Denmark)

    Schack, Vivien Rodacker; Toustrup-Jensen, Mads Schak; Vilsen, Bente

    The Na+, K+-ATPase plays key roles in brain function. Recently, missense mutations in the Na+, K+-ATPase were found associated with familial rapid-onset dystonia parkinsonism (FRDP). Here, we have characterized the functional consequences of FRDP mutations Phe785Leu and Thr618Met. Both mutations...... that the aromatic function of the side chain, as well as its exact position, is critical for Na+ and ouabain binding. Structural modeling demonstrates that substitution of Phe785 disturbs its participation in a hydrophobic network between three transmembrane segments. It also indicates that the Thr618Met mutation...

  11. The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

    Science.gov (United States)

    Sweney, Matthew T; Newcomb, Tara M; Swoboda, Kathryn J

    2015-01-01

    ATP1A3 mutations have now been recognized in infants and children presenting with a diverse group of neurological phenotypes, including Rapid-onset Dystonia-Parkinsonism (RDP), Alternating Hemiplegia of Childhood (AHC), and most recently, Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy, and Sensorineural hearing loss (CAPOS) syndrome. Existing literature on ATP1A3-related disorders in the pediatric population were reviewed, with attention to clinical features and associated genotypes among those with RDP, AHC, or CAPOS syndrome phenotypes. While classically defined phenotypes associated with AHC, RDP, and CAPOS syndromes are distinct, common elements among ATP1A3-related neurological disorders include characteristic episodic neurological symptoms and signs that vary in severity, duration, and frequency of occurrence. Affected children typically present in the context of an acute onset of paroxysmal, episodic neurological symptoms ranging from oculomotor abnormalities, hypotonia, paralysis, dystonia, ataxia, seizure-like episodes, or encephalopathy. Neurodevelopmental delays or persistence of dystonia, chorea, or ataxia after resolution of an initial episode are common, providing important clues for diagnosis. The phenotypic spectrum of ATP1A3-related neurological disorders continues to expand beyond the distinct yet overlapping phenotypes in patients with AHC, RDP, and CAPOS syndromes. ATP1A3 mutation analysis is appropriate to consider in the diagnostic algorithm for any child presenting with episodic or fluctuating ataxia, weakness or dystonia whether they manifest persistence of neurological symptoms between episodes. Additional work is needed to better identify and classify affected patients and develop targeted treatment approaches. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Western equine encephalitis with rapid onset of parkinsonism.

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    Schultz, D R; Barthal, J S; Garrett, G

    1977-11-01

    A patient with confirmed western equine encephalitis had the rapid onset of postencephalitic parkinsonian sequelae. This observation corroborates similar previous but rare reports. Response to therapy with levodopa, dopa decarboxylase inhibitor, and trihexyphenidyl was dramatic. However, remission maintained for 12 months without medication suggests that the parkinsonism would have remitted spontaneously. In either case, this has not previously been reported with the western equine togavirus.

  13. Advances in molecular genetic studies of primary dystonia

    Directory of Open Access Journals (Sweden)

    MA Ling-yan

    2013-07-01

    Full Text Available Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting, repetitive movements and abnormal postures. In recent years, there was a great advance in molecular genetic studies of primary dystonia. This paper will review the clinical characteristics and molecular genetic studies of primary dystonia, including early-onset generalized torsion dystonia (DYT1, whispering dysphonia (DYT4, dopa-responsive dystonia (DYT5, mixed-type dystonia (DYT6, paroxysmal kinesigenic dyskinesia (DYT10, myoclonus-dystonia syndrome (DYT11, rapid-onset dystonia parkinsonism (DYT12, adult-onset cervical dystonia (DYT23, craniocervical dystonia (DYT24 and primary torsion dystonia (DYT25.

  14. Genetics Home Reference: X-linked dystonia-parkinsonism

    Science.gov (United States)

    ... people with this condition can trace their mother's ancestry to the island of Panay in the Philippines. ... analyses of X-linked dystonia-parkinsonism ("lubag") in women. Arch Neurol. 2004 Dec;61(12):1956-9. ...

  15. X-Linked Dystonia Parkinsonism: Clinical Phenotype, Genetics and Therapeutics

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    Raymond L. Rosales

    2010-10-01

    Full Text Available The clinical phenotype of X-Linked Dystonia Parkinsonism (XDP is typically one that involves a Filipino adult male whose ancestry is mostly traced in the Philippine island of Panay. Dystonia usually starts focally in the lower limbs or oromandibular regions, then spreads to become generalized eventually. Parkinsonism sets in later into the disease and usually in combination with dystonia. /DYT3/ and /TAF1/ are the two genes associated with XDP. An SVA retrotransposon insertion in an intron of /TAF1/ may reduce neuron-specific expression of the /TAF1/ isoform in the caudate nucleus, and subsequently interfere with the transcription of many neuronal genes. Polypharmacy with oral benzodiazepines, anticholinergic agents and muscle relaxants leaves much to be desired in terms of efficacy. The medications to date that may appear beneficial, especially in disabling dystonias, are zolpidem, muscle afferent block with lidocaine-ethanol and botulinum toxin type A. Despite the few cases undergoing deep brain stimulation, this functional surgery has shown the greatest promise in XDP. An illustrative case of XDP in a family depicts the variable course of illness, including a bout of “status dystonicus,” challenges in therapy, reckoning with the social impact of the disease, and eventual patient demise. Indeed, there remains some gaps in understanding some phenomenological, genetic and treatment aspects of XDP, the areas upon which future research directions may be worthwhile.

  16. Dystonia

    Science.gov (United States)

    ... were unknown and the cellular biology underlying the development of the disease was not understood at all. Treatment for dystonia ... beginning to understand how genetic mutations and environmental influences lead to ... to the disease. Animals models of dystonia – based in some cases ...

  17. Dystonias

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    ... Division of Neuroscience Director, NIH BRAIN Initiative® Health Scientist Administrator Channels Synapses Circuits Cluster Scientific Director, Division of Intramural Research Featured Director's Message menu search Enter Search Term Submit Search Dystonias Information Page ...

  18. A distinct variant of mixed dysarthria reflects parkinsonism and dystonia due to ephedrone abuse.

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    Rusz, Jan; Megrelishvili, Marika; Bonnet, Cecilia; Okujava, Michael; Brožová, Hana; Khatiashvili, Irine; Sekhniashvili, Madona; Janelidze, Marina; Tolosa, Eduardo; Růžička, Evžen

    2014-06-01

    A distinctive alteration of speech has been reported in patients suffering from ephedrone-induced parkinsonism. However, an objective assessment of dysarthria has not been performed in ephedrone users. We studied 28 young Caucasian men from Georgia with a previous history of ephedrone abuse and compared them to 25 age-matched healthy controls. Speech examination, brain MRI, and NNIPPS-Parkinson plus scale were performed in all patients. The accurate differential diagnosis of dysarthria subtypes was based on the quantitative acoustic analyses of 15 speech dimensions. We revealed a distinct variant of mixed dysarthria with a combination of hyperkinetic and hypokinetic components representing the altered motor programming of dystonia and bradykinesia in ephedrone-induced parkinsonism. According to acoustic analyses, all patients presented at least one affected speech dimension, whereas dysarthria was moderate in 43% and severe in 36% of patients. Further findings indicated relationships between motor subscores of dystonia and bradykinesia and speech components of loudness (r = -0.54, p dysarthria occurs that appears related to marked dystonia and bradykinesia and probably reflects manganese induced toxic and neurodegenerative damage to the globus pallidus internus and substantia nigra.

  19. Subthalamic local field potentials in Parkinson's disease and isolated dystonia: An evaluation of potential biomarkers.

    Science.gov (United States)

    Wang, Doris D; de Hemptinne, Coralie; Miocinovic, Svjetlana; Qasim, Salman E; Miller, Andrew M; Ostrem, Jill L; Galifianakis, Nicholas B; San Luciano, Marta; Starr, Philip A

    2016-05-01

    Local field potentials (LFP) recorded from the subthalamic nucleus in patients with Parkinson's disease (PD) demonstrate prominent oscillations in the beta (13-30 Hz) frequency range, and reduction of beta band spectral power by levodopa and deep brain stimulation (DBS) is correlated with motor symptom improvement. Several features of beta activity have been theorized to be specific biomarkers of the parkinsonian state, though these have rarely been studied in non-parkinsonian conditions. To compare resting state LFP features in PD and isolated dystonia and evaluate disease-specific biomarkers, we recorded subthalamic LFPs from 28 akinetic-rigid PD and 12 isolated dystonia patients during awake DBS implantation. Spectral power and phase-amplitude coupling characteristics were analyzed. In 26/28 PD and 11/12 isolated dystonia patients, the LFP power spectrum had a peak in the beta frequency range, with similar amplitudes between groups. Resting state power did not differ between groups in the theta (5-8 Hz), alpha (8-12 Hz), beta (13-30 Hz), broadband gamma (50-200 Hz), or high frequency oscillation (HFO, 250-350 Hz) bands. Analysis of phase-amplitude coupling between low frequency phase and HFO amplitude revealed significant interactions in 19/28 PD and 6/12 dystonia recordings without significant differences in maximal coupling or preferred phase. Two features of subthalamic LFPs that have been proposed as specific parkinsonian biomarkers, beta power and coupling of beta phase to HFO amplitude, were also present in isolated dystonia, including focal dystonias. This casts doubt on the utility of these metrics as disease-specific diagnostic biomarkers. Published by Elsevier Inc.

  20. Depression symptoms in movement disorders: comparing Parkinson's disease, dystonia, and essential tremor.

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    Miller, Kimberly M; Okun, Michael S; Fernandez, Hubert F; Jacobson, Charles E; Rodriguez, Ramon L; Bowers, Dawn

    2007-04-15

    Depression is common in Parkinson's disease (PD) and affects 30 to 50% of all patients. In contrast to the wealth of research on depression in PD, little is known about the occurrence of depression in other movement disorders. The primary objective of the current study was to determine whether the high prevalence of depression symptoms seen in PD is also found in other movement disorders, by directly comparing rates of specific depression symptoms and depression severity across PD, dystonia, and essential tremor (ET). Three hundred and fifty-four patients with PD, 83 patients with dystonia, and 53 patients with ET completed the Beck Depression Inventory (BDI). We found no significant between-groups differences for depression severity, frequency, or endorsement of specific depression symptoms. Forty-eight percent of PD patients, 37.3% of dystonia patients, and 34% of ET patients were found to be at least mildly depressed (BDI score of 10 or higher). The most commonly endorsed symptoms were fatigability, difficulty with work, anhedonia, and sleep disturbance. Clinicians should be aware that depression is a frequent problem in dystonia and ET, in addition to PD, and inquire about depression symptoms in these patients so that they can be appropriately treated.

  1. Striatal dysfunction in X-linked dystonia-parkinsonism is associated with disease progression.

    Science.gov (United States)

    Brüggemann, N; Rosales, R L; Waugh, J L; Blood, A J; Domingo, A; Heldmann, M; Jamora, R D; Münchau, A; Münte, T F; Lee, L V; Buchmann, I; Klein, C

    2017-05-01

    X-linked dystonia-parkinsonism (XDP) is an inherited neurodegenerative adult-onset movement disorder associated with striatal atrophy. As the dopaminergic system has not yet been systemically studied in this basal ganglia model disease, it is unclear whether nigrostriatal dysfunction contributes to parkinsonism in XDP. Pre- and post-synaptic dopaminergic function was assessed in XDP. A total of 10 123 jod-benzamide (IBZM) single-photon emission computed tomography (SPECT) images were obtained for nine patients aged 42.3 ± 9.5 years (SD; range 30-52) and one asymptomatic mutation carrier (38 years), and four ioflupane (FP-CIT) SPECT images were obtained for four patients, aged 41.5 ± 11.6 years (range 30-52 years). Structural magnetic resonance imaging was also performed for all mutation carriers and 10 matched healthy controls. All patients were men who suffered from severe, disabling segmental or generalized dystonia and had varying degrees of parkinsonism. IBZM SPECT images were pathological in 8/9 symptomatic patients with distinct reduced post-synaptic tracer uptake in the caudate nucleus and putamen, and unremarkable in the asymptomatic mutation carrier. Longer disease duration was correlated with lower IBZM binding ratios. All subjects exhibited slightly reduced FP-CIT uptake values compared to controls for each analyzed region (-37% to -41%) which may be linked to basal ganglia volume loss. Visual inspection revealed physiological FP-CIT uptake in 1/4 patients. This nuclear imaging study provides evidence that the functional decline of post-synaptic dopaminergic neurotransmission is related to disease duration and ongoing neurodegeneration. Given the severe striatal cell loss which could be verified with post-synaptic nuclear imaging, both parkinsonism and dystonia in XDP are probably mainly due to striatal dysfunction. © 2017 EAN.

  2. Striosomal dysfunction affects behavioral adaptation but not impulsivity-Evidence from X-linked dystonia-parkinsonism.

    Science.gov (United States)

    Beste, Christian; Mückschel, Moritz; Rosales, Raymond; Domingo, Aloysius; Lee, Lillian; Ng, Arlene; Klein, Christine; Münchau, Alexander

    2017-04-01

    Executive functions including behavioral adaptation and impulse control are commonly impaired in movement disorders caused by striatal pathology. However, as yet it is unclear what aspects of behavioral abnormalities are related to pathology in which striatal subcomponent, that is, the matrix and the striosomes. We therefore studied cognitive control in X-linked dystonia-parkinsonism, a model disease of striosomal degeneration, using behavioral paradigms and EEG. We studied genetically confirmed X-linked dystonia-parkinsonism patients (N = 21) in their early disease stages and healthy matched controls. Error-related behavioral adaptation was tested in a flanker task and response inhibition in a Go/Nogo paradigm during EEG. We focused on error-related negativity during error processing and the Nogo-N2 and Nogo-P3 in the response inhibition task. Source localization analyses were calculated. In addition, total wavelet power and phase-locking factor reflecting neural synchronization processes in time and frequency across trials were calculated. Error processing and behavioral adaptation predominantly engaging the anterior cingulate cortex was markedly impaired in X-linked dystonia-parkinsonism. This was reflected in abnormal reaction times correlating with error-related negativity amplitudes, error related theta band activity, and the phase-locking factor. Also, abnormal error processing correlated with dystonia severity but not with parkinsonism. Response inhibition and corresponding EEG activity were normal. This dissociable pattern of cognitive deficits most likely reflects predominant dysfunction of the striosomal compartment and its connections to the anterior cingulate cortex in X-linked dystonia-parkinsonism. The results underscore the importance of striosomes for cognitive function in humans and suggest that striosomes are relays of error-related behavioral adaptation but not inhibitory control. © 2017 International Parkinson and Movement Disorder Society

  3. Ataxia with Parkinsonism and dystonia after intentional inhalation of liquefied petroleum gas

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    Godani M

    2015-05-01

    Full Text Available Massimiliano Godani,1 Francesca Canavese,1 Sonia Migliorini,2 Massimo Del Sette1 1Neurology Unit, 2Department of Neuroradiology, Sant’Andrea Hospital, La Spezia, Italy Abstract: The practice of inhaling liquefied petroleum gas (LPG to commit suicide is uncommon and almost exclusively a prerogative of the prison population. Numerous cases of sudden deaths caused by intentional propane and/or butane inhalation have been described, but these cases survived and a description of the consequences is very rare. We describe a prisoner who survived after voluntary inhalation of LPG, and who developed ataxia, Parkinsonism, and dystonia. Brain MRI showed bilateral hyperintensity in the basal ganglia and in the cerebellar hemispheres. The clinical evolution and the MRI abnormalities are similar to those described in cases of poisoning by CO where the mechanism of brain injury is related to histotoxic hypoxia. We believe that LPG, considered until now a mixture of gas with low neurotoxic power, may have caused direct toxic damage to the brain, mediated by a mechanism of hypoxia, such as in CO intoxication. Keywords: ataxia, Parkinsonism, dystonia, liquefied petroleum gas

  4. ATP1A3 Mutation in Adult Rapid-Onset Ataxia.

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    Kathleen J Sweadner

    Full Text Available A 21-year old male presented with ataxia and dysarthria that had appeared over a period of months. Exome sequencing identified a de novo missense variant in ATP1A3, the gene encoding the α3 subunit of Na,K-ATPase. Several lines of evidence suggest that the variant is causative. ATP1A3 mutations can cause rapid-onset dystonia-parkinsonism (RDP with a similar age and speed of onset, as well as severe diseases of infancy. The patient's ATP1A3 p.Gly316Ser mutation was validated in the laboratory by the impaired ability of the expressed protein to support the growth of cultured cells. In a crystal structure of Na,K-ATPase, the mutated amino acid was directly apposed to a different amino acid mutated in RDP. Clinical evaluation showed that the patient had many characteristics of RDP, however he had minimal fixed dystonia, a defining symptom of RDP. Successive magnetic resonance imaging (MRI revealed progressive cerebellar atrophy, explaining the ataxia. The absence of dystonia in the presence of other RDP symptoms corroborates other evidence that the cerebellum contributes importantly to dystonia pathophysiology. We discuss the possibility that a second de novo variant, in ubiquilin 4 (UBQLN4, a ubiquitin pathway component, contributed to the cerebellar neurodegenerative phenotype and differentiated the disease from other manifestations of ATP1A3 mutations. We also show that a homozygous variant in GPRIN1 (G protein-regulated inducer of neurite outgrowth 1 deletes a motif with multiple copies and is unlikely to be causative.

  5. Weight change after globus pallidus internus or subthalamic nucleus deep brain stimulation in Parkinson's disease and dystonia.

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    Mills, Kelly A; Scherzer, Rebecca; Starr, Philip A; Ostrem, Jill L

    2012-01-01

    Weight gain has been described in Parkinson's disease (PD) patients after subthalamic nucleus (STN) deep brain stimulation (DBS). We examined change in weight following DBS in both PD and dystonia patients to further investigate the role of disease and brain target (STN or globus pallidus internus, GPi) specificity. Data was retrospectively collected on 61 PD DBS patients (STN n = 31 or GPi n = 30) and on 36 dystonia DBS patients (STN n = 9 and GPi n = 27) before and after surgery. Annual change in body mass index (BMI) was evaluated with nonparametric tests between groups and multiple quantile regression. PD patients treated with STN DBS had a small increase in median BMI while those with GPi had a small decrease in BMI. Dystonia patients treated with STN DBS had a greater increase in BMI per year compared to those treated with GPi DBS. Multivariable regression analyses for each disease showed little difference between targets in weight gain in those with PD, but STN target was strongly associated with weight gain in dystonia patients (STN vs. GPi, +7.99 kg, p = 0.012). Our results support previous reports of weight gain after DBS in PD. This is the first report to suggest a target-specific increase in weight following STN DBS in dystonia patients. Copyright © 2012 S. Karger AG, Basel.

  6. Associations of specific psychiatric disorders with isolated focal dystonia, and monogenic and idiopathic Parkinson's disease.

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    Steinlechner, Susanne; Hagenah, Johann; Rumpf, Hans-Jürgen; Meyer, Christian; John, Ulrich; Bäumer, Tobias; Brüggemann, Norbert; Kasten, Meike; Münchau, Alexander; Klein, Christine; Lencer, Rebekka

    2017-06-01

    Comorbidity of psychiatric disorders in patients with movement disorders is common. Often, psychiatric symptoms manifest before the onset of the movement disorder, thus not representing a mere reaction to its burden. How the disease mechanisms of psychiatric and movement disorders are related is still poorly understood. The aim of the present study was to compare prevalence rates of specific psychiatric disorders between different movement disorders including isolated focal dystonia (IFD, N = 91), monogenic Parkinson's disease (PD, N = 41), idiopathic PD (N = 45), and a sample from a Northern Germany general population (TACOS Study; N = 4075). Our results indicate an odds ratio (OR) of 2.6 [confidence interval (CI) 1.7-4.0] for general axis I disorders in IFD, an OR of 2.5 (CI 1.4-4.7) in monogenic PD, and an OR of 1.4 (CI 0.8-2.6) in idiopathic PD. More specifically, the monogenic PD group showed the highest ORs for affective disorders including depression (OR = 4.9), bipolar disorder (OR = 17.4), and hypomanic episodes (OR = 17.0), whereas IFD expressed the highest rates of anxiety disorders (OR = 3.3). Psychotic symptoms were only observed in the PD groups but not in IFD. Our findings underline the notion that psychiatric disorders are part of the phenotypic spectrum of movement disorders. Moreover, they suggest that IFD, monogenic PD, and idiopathic PD are associated with specific psychiatric disorders indicating disturbances in a different neural circuitry for sensorimotor control.

  7. Musician's Dystonias

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    ... Fellowship Training Program Dystonia Coalition Dystonia Study Group Global Dystonia Registry About Us Mission & History How Will We Find a Cure? People Newsletters & Press Releases Dystonia Dialogue Financials Contact Site Tree Home What is Dystonia? ...

  8. Oromandibular Dystonia

    Science.gov (United States)

    ... Fellowship Training Program Dystonia Coalition Dystonia Study Group Global Dystonia Registry About Us Mission & History How Will We Find a Cure? People Newsletters & Press Releases Dystonia Dialogue Financials Contact Site Tree Home What is Dystonia? ...

  9. Developing a Deep Brain Stimulation Neuromodulation Network for Parkinson Disease, Essential Tremor, and Dystonia: Report of a Quality Improvement Project.

    Directory of Open Access Journals (Sweden)

    Richard B Dewey

    Full Text Available To develop a process to improve patient outcomes from deep brain stimulation (DBS surgery for Parkinson disease (PD, essential tremor (ET, and dystonia.We employed standard quality improvement methodology using the Plan-Do-Study-Act process to improve patient selection, surgical DBS lead implantation, postoperative programming, and ongoing assessment of patient outcomes.The result of this quality improvement process was the development of a neuromodulation network. The key aspect of this program is rigorous patient assessment of both motor and non-motor outcomes tracked longitudinally using a REDCap database. We describe how this information is used to identify problems and to initiate Plan-Do-Study-Act cycles to address them. Preliminary outcomes data is presented for the cohort of PD and ET patients who have received surgery since the creation of the neuromodulation network.Careful outcomes tracking is essential to ensure quality in a complex therapeutic endeavor like DBS surgery for movement disorders. The REDCap database system is well suited to store outcomes data for the purpose of ongoing quality assurance monitoring.

  10. Clinical features of dystonia in atypical parkinsonism Características clínicas da distonia no parkinsonismo atípico

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    Clecio Godeiro-Junior

    2008-12-01

    Full Text Available BACKGROUND: The association between Dystonia and Parkinson's disease (PD has been well described especially for foot and hand dystonia. There is however few data on dystonic postures in patients with atypical parkinsonism. OBJECTIVE: To evaluate the frequency and pattern of dystonia in a group of patients with atypical parkinsonism (multiple system atrophy - MSA, progressive supranuclear palsy - PSP, and corticobasal degeneration - CBD and to investigate whether dystonia could be the first presenting symptom at disease onset in those patients. METHOD: A total of 38 medical charts were reviewed (n=23/MSA group; n=7/CBD group; n=8/PSP group and data values were described as means/standard deviations. The variables evaluated were sex, age at onset, disease duration, first symptom, clinical features of dystonia and other neurological signs, response to levodopatherapy, Hoehn&Yahr scale >3 after three years of disease, and magnetic resonance imaging findings. RESULTS: The overall frequency of dystonia in our sample was 50% with 30.4% (n=7 in the MSA group, 62.5% (n=5 in the PSP group, and 100% (n=8 in the CBD group. In none of these patients, dystonia was the first complaint. Several types of dystonia were found: camptocormia, retrocollis, anterocollis, blepharoespasm, oromandibular, and foot/hand dystonia. CONCLUSION: In our series, dystonia was a common feature in atypical parkinsonism (overall frequency of 50% and it was part of the natural history although not the first symptom at disease onset. Neuroimaging abnormalities are not necessarily related to focal dystonia, and levodopa therapy did not influence the pattern of dystonia in our group of patients.INTRODUÇÃO: A associação de distonia e doença de Parkinson (DP já foi bem estabelecida, principalmente para distonia focal em pé ou mão. Entretanto, há poucos dados quanto a distonia em pacientes com parkinsonismo atípico. OBJETIVO: Avaliar a freqüência e o padrão da distonia em um

  11. Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells

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    Naoto Ito

    2016-04-01

    Full Text Available X-linked dystonia-parkinsonism (XDP is a hereditary neurodegenerative disorder involving a progressive loss of striatal medium spiny neurons. The mechanisms underlying neurodegeneration are not known, in part because there have been few cellular models available for studying the disease. The XDP haplotype consists of multiple sequence variations in a region of the X chromosome containing TAF1, a large gene with at least 38 exons, and a multiple transcript system (MTS composed of five unconventional exons. A previous study identified an XDP-specific insertion of a SINE-VNTR-Alu (SVA-type retrotransposon in intron 32 of TAF1, as well as a neural-specific TAF1 isoform, N-TAF1, which showed decreased expression in post-mortem XDP brain compared with control tissue. Here, we generated XDP patient and control fibroblasts and induced pluripotent stem cells (iPSCs in order to further probe cellular defects associated with this disease. As initial validation of the model, we compared expression of TAF1 and MTS transcripts in XDP versus control fibroblasts and iPSC-derived neural stem cells (NSCs. Compared with control cells, XDP fibroblasts exhibited decreased expression of TAF1 transcript fragments derived from exons 32-36, a region spanning the SVA insertion site. N-TAF1, which incorporates an alternative exon (exon 34′, was not expressed in fibroblasts, but was detectable in iPSC-differentiated NSCs at levels that were ∼threefold lower in XDP cells than in controls. These results support the previous findings that N-TAF1 expression is impaired in XDP, but additionally indicate that this aberrant transcription might occur in neural cells at relatively early stages of development that precede neurodegeneration.

  12. Liver transplantion in a patient with rapid onset parkinsonism-dementia complex induced by manganism secondary to liver failure Transplante hepático em um paciente com complexo parkinsonismo-demência rapidamente progressivo induzido por manganismo devido a insuficiência hepática

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    Giorgio Fabiani

    2007-09-01

    Full Text Available Bilateral and symmetric globus-pallidus hyperintensities are observed on T1-weighted MRI in most of the patients with chronic liver failure, due to manganese accumulation. We report a 53-year-old man, with rapid onset parkinsonism-dementia complex associated with accumulation of manganese in the brain, secondary to liver failure. A brain MRI was performed and a high signal on T1-weighted images was seen on globus-pallidus, as well as on T2-weighted images on the hemispheric white-matter. He was referred to a liver-transplantation. The patient passed away on the seventh postoperative day. Our findings support the concept of the toxic effects of manganese on the globus-pallidus. The treatment of this form of parkinsonism is controversial and liver-transplantation should not be considered as first line treatment but as an alternative one.Hiperintesidades simétricas e bilaterais dos gânglios da base são observadas em imagens de ressonância magnética encefálica (RM ponderadas em T1 na maioria dos pacientes com insuficiência hepática crônica devidas ao acúmulo de manganês. Nós relatamos o caso de um homem, com 53 anos de idade, com um complexo parkinsonismo-demência rapidamente progressivo associado com o acúmulo de manganês no cérebro, secundariamente a insuficiência hepática. Uma RM encefálica foi realizada e foram observadas imagens hiperintensas/hipersinal nas imagens ponderadas em T1 no globo pálido e, também, na substância branca dos hemisférios cerebrais ponderadas em T2. Devido à falta de resposta ao tratamento clinico optamos pelo transplante hepático. O paciente faleceu no 7º dia de PO. Nossos achados corroboram o conceito dos efeitos tóxicos do manganês nos gânglios da base/globo pálido. O tratamento desta forma de parkinsonismo é controverso e o transplante hepático não deverá ser considerada uma opção terapêutica de primeira linha, porém como um tratamento alternativo considerando-se os riscos

  13. Forms of Dystonia

    Science.gov (United States)

    ... Fellowship Training Program Dystonia Coalition Dystonia Study Group Global Dystonia Registry About Us Mission & History How Will We Find a Cure? People Newsletters & Press Releases Dystonia Dialogue Financials Contact What is Dystonia? Symptoms & Diagnosis Forms ...

  14. Functional Aspects of Gait in Essential Tremor: A Comparison with Age-Matched Parkinson's Disease Cases, Dystonia Cases, and Controls

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    Elan D. Louis

    2015-05-01

    Full Text Available Background: An understanding of the functional aspects of gait and balance has wide ramifications. Individuals with balance disorders often restrict physical activity, travel, and social commitments to avoid falling, and loss of balance confidence, itself, is a source of disability. We studied the functional aspects of gait in patients with essential tremor (ET, placing their findings within the context of two other neurological disorders (Parkinson’s disease [PD] and dystonia and comparing them with age‐matched controls. Methods: We administered the six‐item Activities of Balance Confidence (ABC‐6 Scale and collected data on number of falls and near‐falls, and use of walking aids in 422 participants (126 ET, 77 PD, 46 dystonia, 173 controls. Results: Balance confidence was lowest in PD, intermediate in ET, and relatively preserved in dystonia compared with controls. This ordering reoccurred for each of the six ABC‐6 items. The number of near‐falls and falls followed a similar ordering. Use of canes, walkers, and wheelchairs was elevated in ET and even greater in PD. Several measures of balance confidence (ABC‐6 items 1, 4, 5, and 6 were lower in torticollis cases than in those with blepharospasm, although the two groups did not differ with respect to falls or use of walking aids. Discussion: Lower balance confidence, increased falls, and greater need for walking aids are variably features of a range of movement disorder patients compared to age‐matched controls. While most marked among PD patients, these issues affected ET patients as well and, to a small degree, some patients with dystonia.

  15. Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump.

    Science.gov (United States)

    Isaksen, Toke Jost; Kros, Lieke; Vedovato, Natascia; Holm, Thomas Hellesøe; Vitenzon, Ariel; Gadsby, David C; Khodakhah, Kamran; Lykke-Hartmann, Karin

    2017-05-01

    Mutations in the neuron-specific α3 isoform of the Na+/K+-ATPase are found in patients suffering from Rapid onset Dystonia Parkinsonism and Alternating Hemiplegia of Childhood, two closely related movement disorders. We show that mice harboring a heterozygous hot spot disease mutation, D801Y (α3+/D801Y), suffer abrupt hypothermia-induced dystonia identified by electromyographic recordings. Single-neuron in vivo recordings in awake α3+/D801Y mice revealed irregular firing of Purkinje cells and their synaptic targets, the deep cerebellar nuclei neurons, which was further exacerbated during dystonia and evolved into abnormal high-frequency burst-like firing. Biophysically, we show that the D-to-Y mutation abolished pump-mediated Na+/K+ exchange, but allowed the pumps to bind Na+ and become phosphorylated. These findings implicate aberrant cerebellar activity in α3 isoform-related dystonia and add to the functional understanding of the scarce and severe mutations in the α3 isoform Na+/K+-ATPase.

  16. Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump.

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    Toke Jost Isaksen

    2017-05-01

    Full Text Available Mutations in the neuron-specific α3 isoform of the Na+/K+-ATPase are found in patients suffering from Rapid onset Dystonia Parkinsonism and Alternating Hemiplegia of Childhood, two closely related movement disorders. We show that mice harboring a heterozygous hot spot disease mutation, D801Y (α3+/D801Y, suffer abrupt hypothermia-induced dystonia identified by electromyographic recordings. Single-neuron in vivo recordings in awake α3+/D801Y mice revealed irregular firing of Purkinje cells and their synaptic targets, the deep cerebellar nuclei neurons, which was further exacerbated during dystonia and evolved into abnormal high-frequency burst-like firing. Biophysically, we show that the D-to-Y mutation abolished pump-mediated Na+/K+ exchange, but allowed the pumps to bind Na+ and become phosphorylated. These findings implicate aberrant cerebellar activity in α3 isoform-related dystonia and add to the functional understanding of the scarce and severe mutations in the α3 isoform Na+/K+-ATPase.

  17. Dystonia: Physical Therapy

    Science.gov (United States)

    ... Online Support Frequently Asked Questions Faces of Dystonia Physical Therapy Physical therapy may be an important component of treating dystonia ... everyday tasks, Since dystonia is a neurological disorder, physical therapy does not treat the dystonia directly but rather ...

  18. Dystonia Medical Research Foundation

    Science.gov (United States)

    ... Fellowship Training Program Dystonia Coalition Dystonia Study Group Global Dystonia Registry About Us Mission & History How Will We Find a Cure? People Newsletters & Press Releases Dystonia Dialogue Financials Contact For 40 years, we have fought ...

  19. Migraine- and dystonia-related disease-mutations of Na+/K+-ATPases: Relevance of behavioral studies in mice to disease symptoms and neurological manifestations in humans

    DEFF Research Database (Denmark)

    Bøttger, Pernille; Doganli, Canan; Lykke-Hartmann, Karin

    2012-01-01

    The two autosomal dominantly inherited neurological diseases: familial hemiplegic migraine type 2 (FHM2) and familial rapid-onset of dystonia-parkinsonism (Familial RDP) are caused by in vivo mutations of specific alpha subunits of the sodium–potassium pump (Na+/K+-ATPase). Intriguingly, patients...... patient symptoms and manifestations. Thus, it is interesting that mouse models targeting a specific -isoform cause different, although still comparable, phenotypes consistent with classical symptoms and other manifestations observed in FHM2 and RDP patients. This review highlights that use of mouse models...... with classical FHM2 and RDP symptoms additionally suffer from other manifestations, such as epilepsy/seizures and developmental disabilities. Recent studies of FHM2 and RDP mouse models provide valuable tools for dissecting the vital roles of the Na+/K+-ATPases, and we discuss their relevance to the complex...

  20. Dopa-responsive dystonia

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    Đurić Gordana

    2009-01-01

    both the left and right legs at rest; after a few years, tremor of hands also appeared, which became worse in stressful situations. The father of the patient was an asymptomatic bearer of mutation. The fourth mutation in gene GCH-I was found in I exon gene GCH- I, 208delA. The disease was started by torsion of the left foot, progressing easily, and worsening in the evenings, but at the age of 30, moving became harder, fatigue and pain in muscles, increased and at the age of 40 the patient recognized the change of speech. The application of levodopa (300 mg/daily made the patient feel better and walk independently. Conclusion. The study presented four patients with genetic confirmation of the diagnosis of dopa-responsive dystonia. This entity is very significant in differential diagnostics of both early dystonia (< 26 years and early parkinsonism (< 40 years since it can be successfully managed by applying relatively low doses of levodopa over a long period of time.

  1. Parkinson's Disease

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    ... H I J K L M N O P Q R S T U V W X Y Z Clinical Trials Clinical Trials ... 981-8001; 800-223-2732; 877-223-3801 (Young Onset Center) Bachmann-Strauss Dystonia & Parkinson Foundation P.O. Box 38016 Albany NY Albany, NY 12203 ...

  2. Dystonia: Related and Differential Disorders

    Science.gov (United States)

    ... Is TMJ a form of dystonia? Temporomandibular joint (TMJ) disease is an arthritic condition, not a dystonia. Oromandibular dystonia may be misdiagnosed as TMJ. Accelerating Research & Inspiring Hope The Dystonia Medical Research ...

  3. Tremor in dystonia.

    Science.gov (United States)

    Pandey, Sanjay; Sarma, Neelav

    2016-08-01

    Tremor has been recognized as an important clinical feature in dystonia. Tremor in dystonia may occur in the body part affected by dystonia known as dystonic tremor or unaffected body regions known as tremor associated with dystonia. The most common type of tremor seen in dystonia patients is postural and kinetic which may be mistaken for familial essential tremor. Similarly familial essential tremor patients may have associated dystonia leading to diagnostic uncertainties. The pathogenesis of tremor in dystonia remains speculative, but its neurophysiological features are similar to dystonia which helps in differentiating it from essential tremor patients. Treatment of tremor in dystonia depends upon the site of involvement. Dystonic hand tremor is treated with oral pharmacological therapy and dystonic head, jaw and voice tremor is treated with injection botulinum toxin. Neurosurgical interventions such as deep brain stimulation and lesion surgery should be an option in patients not responding to the pharmacological treatment. Copyright © 2016 Elsevier Ltd. All rights reserved.

  4. Is tremor in dystonia a phenotypic feature of dystonia?

    Science.gov (United States)

    Defazio, Giovanni; Conte, Antonella; Gigante, Angelo F; Fabbrini, Giovanni; Berardelli, Alfredo

    2015-03-10

    To understand better the features and mechanisms distinguishing tremor in dystonia, we reviewed the epidemiologic, clinical, and neurophysiologic data in patients with dystonia and tremor. Clinical studies suggest that tremor starts at or after dystonia onset in body parts affected or unaffected by dystonia. Tremor in dystonia manifests during posture or voluntary movements even though some dystonic patients may have tremor at rest. Prevalence rates for tremor in dystonia are higher in patients with adult-onset dystonia and cervical dystonia than in other dystonias and highest in patients in whom dystonia spreads. Neurophysiologic investigations in patients with dystonia and tremor show reduced reciprocal inhibition between agonist and antagonist upper limb muscles, a lack of brainstem interneuronal inhibition, and abnormal sensory integration. The neurophysiologic abnormalities in patients with dystonia and tremor resemble those in dystonia but differ from those described in essential tremor. Tremor is a phenotypic motor feature in dystonia. © 2015 American Academy of Neurology.

  5. Art and dystonia.

    Science.gov (United States)

    Garcia-Ruiz, Pedro J; Slawek, Jaroslaw; Sitek, Emilia J; Martinez Castrillo, Juan Carlos

    2015-09-15

    Dystonia has a recent history in medicine. Focal dystonia was described in the 19th century by classic authors including Gowers, whilst generalized dystonia was described at the turn of the century. However, it is possible to find precise descriptions of dystonia in art, centuries before the medical definition. We have reviewed several pieces of art (sculpture, painting and literature) across the history that might represent descriptions of dystonia, from ancient period to nowadays. In classic times, the first reference to abnormal postures can be tracked back to the new Empire of Egypt (equinus foot), not to mention some recently described examples of dystonia from the Moche sculptures in Peru or Veracruz culture from Mexico. In Middle Ages it is possible to find many examples of sculptures in European cathedrals representing peasants with dramatic, presumably dystonic postures that coexist with amputation of limbs. This unique combination of dystonia and limb amputation probably represents ergotism. The painters Brueghel, Ribera and Velazquez also represented figures with postures likely to be dystonic. Literature is also a source of precise pre-neurological descriptions, especially during the 19th century. In David Copperfield, Dickens depicts characters with generalized dystonia (Uriah Heep), cervical dystonia (Mr. Sharp) and spasmodic dysphonia (Mr Creakle). Finally, even in modern Art (19th and 20th centuries), there are dramatic descriptions of abnormal postures that are likely to be dystonic, such as painful cervical dystonia (Brancusi), cervical dystonia with sensory trick (Modigliani) and upper limb dystonia (Wyspianski). However some postures presented in works of art may simply be a form of artistic expression and only bear unintentional resemblance to the dystonic postures. Art may be a source of neurological information, and that includes primary and secondary dystonia. Copyright © 2015 Elsevier B.V. All rights reserved.

  6. Torsion Dystonia in Children.

    Science.gov (United States)

    Hinson, Vanessa K.; Goetz, Christopher G.

    2003-07-01

    Medical treatment of childhood-onset dystonia can lead to substantial improvement of the condition, often with much more pronounced benefit than in adults. The authors give every patient a trial of levodopa to assess the possible diagnosis of dopa-responsive dystonia, followed-up with centrally acting anticholinergics such as trihexiphenydil. If needed, baclofen or clonazepam is added or substituted. In focal dystonia or segmental and generalized dystonia with prominent involvement of specific muscle groups, botulinum toxin injections are often used. Pallidal deep brain stimulation is offered to selected patients with medically refractory dystonia. Treatment of secondary dystonias, caused by such conditions as Wilson's disease, requires therapy for the underlying disorder. Physical therapy, splints, and occupational therapy can be useful in some patients. The authors do not use intrathecal baclofen unless there is evidence of accompanying spasticity.

  7. Prevention and treatment of traumatic brain injury due to rapid-onset natural disasters

    Directory of Open Access Journals (Sweden)

    James L. Regens

    2014-04-01

    Full Text Available The prevention and treatment of traumatic brain injury (TBI attributable to rapid-onset natural disasters is a major challenge confronting disaster preparedness planners and emergency medical personnel responding to those incidents. The kinetic energy released by rapid-onset natural disasters such as earthquakes, hurricanes or typhoons, and tornadoes can cause mild, moderate or severe TBIs. As a result, neurotrauma is a major risk factor for mortality and morbidity outcomes within the spatial domain impacted by a rapid-onset natural disaster. This review article elucidates major challenges associated with immediate emergency medical response, long-term care, and prevention of post-event increases in pediatric TBIs because of child abuse when rapid-onset natural disasters occur.

  8. Dystonia: Emotional and Mental Health

    Science.gov (United States)

    ... Support Frequently Asked Questions Faces of Dystonia Emotional & Mental Health Although dystonia is a movement disorder that impacts ... emotion as well as muscle movement. For years, mental health professionals have recognized that coping with a chronic ...

  9. 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.

  10. Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.

    Science.gov (United States)

    Zech, Michael; Boesch, Sylvia; Jochim, Angela; Weber, Sandrina; Meindl, Tobias; Schormair, Barbara; Wieland, Thomas; Lunetta, Christian; Sansone, Valeria; Messner, Michael; Mueller, Joerg; Ceballos-Baumann, Andres; Strom, Tim M; Colombo, Roberto; Poewe, Werner; Haslinger, Bernhard; Winkelmann, Juliane

    2017-04-01

    Dystonia is clinically and genetically heterogeneous. Despite being a first-line testing tool for heterogeneous inherited disorders, whole-exome sequencing has not yet been evaluated in dystonia diagnostics. We set up a pilot study to address the yield of whole-exome sequencing for early-onset generalized dystonia, a disease subtype enriched for monogenic causation. Clinical whole-exome sequencing coupled with bioinformatics analysis and detailed phenotyping of mutation carriers was performed on 16 consecutive cases with genetically undefined early-onset generalized dystonia. Candidate pathogenic variants were validated and tested for cosegregation. The whole-exome approach was complemented by analyzing 2 mutated yet unestablished causative genes in another 590 dystonia cases. Whole-exome sequencing detected clinically relevant mutations of known dystonia-related genes in 6 generalized dystonia cases (37.5%), among whom 3 had novel variants. Reflecting locus heterogeneity, identified unique variants were distributed over 5 genes (GCH1, THAP1, TOR1A, ANO3, ADCY5), of which only 1 (ANO3) was mutated recurrently. Three genes (GCH1, THAP1, TOR1A) were associated with isolated generalized dystonia, whereas 2 (ANO3, ADCY5) gave rise to combined dystonia-myoclonus phenotypes. Follow-up screening of ANO3 and ADCY5 revealed a set of distinct variants of interest, the pathogenicity of which was supported by bioinformatics testing and cosegregation work. Our study identified whole-exome sequencing as an effective strategy for molecular diagnosis of early-onset generalized dystonia and offers insights into the heterogeneous genetic architecture of this condition. Furthermore, it provides confirmatory evidence for a dystonia-relevant role of ANO3 and ADCY5, both of which likely associate with a broader spectrum of dystonic expressions than previously thought. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder

  11. DYSTONIA IN CHILDREN (A LECTURE

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    M. Yu. Bobylova

    2014-01-01

    Full Text Available Distonia is a movement disorder associated with imbalance of excitatory neurotransmitters, and it is characterized by continuous or episodic muscle contraction that forms repetitive stereotyped movements and/or postures. Dystonic hyperkinesia of younger children can be included into the structure of many syndromes that have different etiological factors, prognosis, and treatment. Different clinical variant of dystonia are represented: idiopathic benign dystonia with the onset in the first year of life; dystonia against the background of residual damage to the nervous system; hereditary idiopathic and symptomatic dystonia with various syndromes and metabolic diseases; similar conditions. Diagnostics of dystonia of children requires application of a wide range of examinations, including neuroimaging, continuous video electroencephalographic monitoring, genetic research. Differential diagnosis of dystonia of children is performed regarding various paroxysmal states of childhood of the epileptic and non-epileptic nature.

  12. Treatment for dystonia in childhood.

    Science.gov (United States)

    Roubertie, A; Mariani, L L; Fernandez-Alvarez, E; Doummar, D; Roze, E

    2012-10-01

    Management of childhood dystonia differs in certain respects from that of adult dystonia: (i) childhood dystonia is more often secondary than primary; (ii) mixed motor disorders are frequent; (iii) in children, the course of dystonia may be influenced by ongoing brain maturation and by the remarkable plasticity of the young brain; (iv) drug tolerability and effectiveness can be different in children; (v) the therapeutic strategy must be discussed with both the patient and his or her parents; and (vi) the child's education must be taken into account. Based on a systematic review of the literature through June 2011 and on our personal experience, we propose a therapeutic approach to childhood dystonia. After a detailed clinical evaluation and a comprehensive work-up to rule out a treatable cause of dystonia, symptomatic treatment may include various drugs, local botulinum toxin injections, and deep brain stimulation, in addition to rehabilitation. © 2012 The Author(s) European Journal of Neurology © 2012 EFNS.

  13. Neuropathology of Cervical Dystonia

    OpenAIRE

    Prudente, C.N.; Pardo, C. A.; Xiao, J; Hanfelt, J.; Hess, E J; LeDoux, M S.; Jinnah, H. A.

    2012-01-01

    The aim of this study was to search for neuropathological changes in postmortem brain tissue of individuals with cervical dystonia (CD). Multiple regions of formalin-preserved brains were collected from patients with CD and controls and examined with an extensive battery of histopathological stains in a two-stage study design. In stage one, 4 CD brains underwent a broad screening neuropathological examination. In stage two, these 4 CD brains were combined with 2 additional CD brains, and the ...

  14. Amitriptyline induced cervical dystonia

    Directory of Open Access Journals (Sweden)

    Shivanand B Hiremath

    2016-01-01

    Full Text Available Tricyclic antidepressants (TCAs, such as amitriptyline, have many side effects. But extrapyramidal tract symptom is an uncommon side effect of these drugs. Here, we report a case of a 28-year-old male who is suffering from amitriptyline induced cervical dystonia. Though rare, this side effect is an uncomfortable condition and may influence drug compliance. So clinicians should be aware of this side effect while treating a patient with amitriptyline.

  15. Bladder function in patients with dystonia undergoing deep brain stimulation.

    Science.gov (United States)

    Mordasini, Livio; Kessler, Thomas M; Kiss, Bernhard; Schüpbach, Michael; Pollo, Claudio; Kaelin-Lang, Alain

    2014-09-01

    Neurogenic bladder dysfunction is well described in Parkinson's disease and has a major impact on quality of live. In contrast, little is known about the extent of urinary symptoms in other movement disorders such as dystonia and about the role of the basal ganglia in bladder control.. A consecutive series of 11 patients with severe dystonia undergoing deep brain stimulation (DBS) of the globus pallidus internus was prospectively enrolled. Bladder function was assessed by the International Prostate Symptom Score and urodynamic investigation (UDI) before DBS surgery and afterwards in the conditions with and without DBS. In UDI before DBS surgery, detrusor overactivity was found in 36% (4/11) of dystonia patients. With pallidal DBS ON, maximum flow rate significantly decreased, post-void residual significantly increased and detrusor overactivity disappeared.. Pathological urodynamic changes can be found in a relevant percentage of dystonia patients. Pallidal DBS has a relaxing effect on detrusor function indicating a role of the basal ganglia in lower urinary tract control. Thus, a better understanding on how subcortical networks influence lower urinary tract function might open new therapeutic perspectives.. Copyright © 2014 Elsevier Ltd. All rights reserved.

  16. Twiddler's syndrome in a patient with a deep brain stimulation device for generalized dystonia

    DEFF Research Database (Denmark)

    Astradsson, Arnar; Schweder, Patrick M; Joint, Carole

    2011-01-01

    Deep brain stimulation (DBS) is the technique of neurostimulation of deep brain structures for the treatment of conditions such as essential tremor, dystonia, Parkinson's disease and chronic pain syndromes. The procedure uses implanted deep brain stimulation electrodes connected to extension leads...

  17. Cellular function and pathological role of ATP13A2 and related P-type transport ATPases in Parkinson's disease and other neurological disorders

    DEFF Research Database (Denmark)

    van Veen, Sarah; Sørensen, Danny M.; Holemans, Tine

    2014-01-01

    . To discuss the role of ATP13A2 in neurodegeneration, we first provide a short description of the architecture and transport mechanism of P-type transport ATPases. Then, we briefly highlight key P-type ATPases involved in neuronal disorders such as the copper transporters ATP7A (Menkes disease), ATP7B (Wilson......Mutations in ATP13A2 lead to Kufor-Rakeb syndrome, a parkinsonism with dementia. ATP13A2 belongs to the P-type transport ATPases, a large family of primary active transporters that exert vital cellular functions. However, the cellular function and transported substrate of ATP13A2 remain unknown...... disease), the Na+/K+-ATPases ATP1A2 (familial hemiplegic migraine) and ATP1A3 (rapid-onset dystonia parkinsonism). Finally, we review the recent literature of ATP13A2 and discuss ATP13A2's putative cellular function in the light of what is known concerning the functions of other, better-studied P...

  18. Egon Schiele and dystonia.

    Science.gov (United States)

    Erbguth, Frank J

    2010-01-01

    Egon Schiele was a leading Austrian Expressionist painter who, after the era of Gustav Klimt, strongly influenced the artistic scene in Vienna in the early 20th century. Schiele's depiction of his body in his self-portraits in a twisted, contorted, dystonia-like pose raised questions about the possibility of his suffering from dystonia. However, there are no grounds whatsoever for such a hypothesis. Schiele's conception of distorted, at times bizarre, body postures reflects a concourse of the Expressionist formal style of displaying extroverted emotions and psychic confl icts with the emerging perception of photographs of patients with movement disorders in Vienna's art scene and intellectual circles. There are reliable indications that Schiele knew the images of diseases published in the 'Iconographie Photographique de la Salpetriere' and the later 'Nouvelle Iconographie de la Salpetriere' including hysterical and dystonic postures. The brevity of Schiele's life adds to the popular fantasy of the outlaw who lived fast and died young. In fact, however, his drawings sold well to discerning collectors, and his exhibitions were a financial success, so the myth of Schiele as a sacrificial outcast does not tell the whole story. It may be speculated that the figuration of the pathological body in Schiele's self-portraiture was part of modernist strategizing. Copyright (c) 2010 S. Karger AG, Basel.

  19. Bilateral pallidotomy for generalized dystonia Palidotomia bilateral para distonias generalizadas

    Directory of Open Access Journals (Sweden)

    Hélio A. G. Teive

    2001-06-01

    Full Text Available OBJECTIVE: To evaluate the efficacy and safety of bilateral pallidotomies in five patients with generalized dystonia. BACKGROUND: Generalized dystonias are frequently a therapeutic challenge, with poor responses to pharmacological treatment. GPi (globus pallidus internus pallidotomies for Parkinson's disease ameliorate all kinds of dyskinesias/dystonia, and recent studies reported a marked improvement of refractory dystonias with this procedure. METHODS: Five patients with generalized dystonias refractory to medical treatment were selected; one posttraumatic and four idiopathic. The decision to perform bilateral procedures was based on the predominant axial involvement in these patients. Dystonia severity was assessed with the Burke-Fahn-Marsden Dystonia Scale (BFM. Simultaneous procedures were performed in all but one patient, who had a staged procedure. They were reevaluated with the same scale (BFM by an unblinded rater at 1, 2, 3, 30, 60, 90, 120 and 180 days post-operatively. RESULTS: The four patients with idiopathic dystonia showed a progressive improvement up to three months; the patient with posttraumatic dystonia relapsed at three months. One patient had a marked improvement, being able to discontinue all the medications. A mean decrease in the BFM scores of 52,58% was noted. One patient had a trans-operative motor seizure followed by a transient hemiparesis secondary to rack hemorrhage; other was lethargic up to three days after the procedure. CONCLUSIONS: Our results show that bilateral GPi pallidotomies may be a safe and effective approach to medically refractory generalized dystonias; it can also be speculated that the posttraumatic subgroup may not benefit with this procedure.As distonias generalizadas são freqüentemente um desafio terapêutico, com pobres respostas aos tratamentos farmacológicos. As cirurgias estereotáxicas, como a palidotomia, têm sido utilizadas com êxito no tratamento da doença de Parkinson e estudos

  20. Considerations in selecting rapid-onset opioids for the management of breakthrough pain

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    Perelman M

    2013-06-01

    Full Text Available Michael Perelman, Suzan LeakeArchimedes Pharma, Bedminister, NJ, USAWe read with great interest the recent publication by Smith.1 This article provides a valuable perspective on the selection of an agent to manage breakthrough pain. Smith recognizes the importance of a fast onset-of-action and the identification by Farrar et al2 of a 33% (often ≥2 point change in the pain intensity difference as a measure of a ‘clinically important improvement’. For these reasons, Smith focuses on the various transmucosal fentanyl formulations that offer a rapid onset and he provides a nice summary of the key features of each of the available products.View original paper by Howard S Smith.

  1. Syndrome of rapid onset end stage renal disease in incident Mayo Clinic chronic hemodialysis patient

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    M. A. C. Onuigbo

    2014-01-01

    Full Text Available Despite decades of research, a full understanding of chronic kidney disease (CKD-end stage renal disease (ESRD progression remains elusive. The common consensus is a predictable, linear, progressive and time-dependent decline of CKD to ESRD. Acute kidney injury (AKI on CKD is usually assumed to be transient, with recovery as the expected outcome. AKI-ESRD association in current nephrology literature is blamed on the so-called "residual confounding." We had previously described a relationship between AKI events and rapid onset yet irreversible ESRD happening in a continuum in a high-risk CKD cohort. However, the contribution of the syndrome of rapid onset-ESRD (SORO-ESRD to incident United States ESRD population remained conjectural. In this retrospective analysis, we analyzed serum creatinine trajectories of the last 100 consecutive ESRD patients in 4 Mayo Clinic chronic hemodialysis units to determine the incidence of SORO-ESRD. Excluding 9 patients, 31 (34% patients, including two renal transplant recipients, had SORO-ESRD: 18 males and 13 females age 72 (range 50-92 years. Precipitating AKI followed pneumonia (8, acutely decompensated heart failure (7, pyelonephritis (4, post-operative (5, sepsis (3, contrast-induced nephropathy (2, and others (2. Time to dialysis was shortest following surgical procedures. Concurrent renin angiotensin aldosterone system blockade was higher with SORO-ESRD - 23% versus 5%, P = 0.0113. In conclusion, SORO-ESRD is not uncommon among the incident general US ESRD population. The implications for ESRD care planning, AV-fistula-first programs, general CKD care and any associations with renal ageing/senescence warrant further study.

  2. Basal ganglia modulation of thalamocortical relay in Parkinson’s disease and dystonia

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    Yixin eGuo

    2013-09-01

    Full Text Available Basal ganglia dysfunction has being implied in both Parkinson's disease and dystonia. While these disorders probably involve different cellular and circuit pathologies within and beyond basal ganglia, there may be some shared neurophysiological pathways. For example, pallidotomy and pallidal Deep Brain Stimulation (DBS are used in symptomatic treatment of both disorders. Both conditions are marked by alterations of rhythmicity of neural activity throughout basal ganglia-thalamocortical circuits. Increased synchronized oscillatory activity in beta band is characteristic of Parkinson’s disease, while different frequency bands, theta and alpha, are involved in dystonia. We compare the effect of the activity of GPi, the output nuclei of the basal ganglia, on the information processing in the downstream neural circuits of thalamus in Parkinson’s disease and dystonia. We use a data-driven computational approach, a computational model of the thalamocortical (TC cell modulated by experimentally recorded data, to study the differences and similarities of thalamic dynamics in dystonia and Parkinson's disease. Our analysis shows no substantial differences in TC relay between the two conditions. Our results suggest that, similar to Parkinson’s disease, a disruption of thalamic processing could also be involved in dystonia. Moreover, the degree to which TC relay fidelity is impaired is approximately the same in both conditions. While Parkinson’s disease and dystonia may have different pathologies and differ in the oscillatory content of neural discharge, our results suggest that the effect of patterning of pallidal discharge is similar in both conditions. Furthermore, these results suggest that the mechanisms of GPi DBS in dystonia maybe involve improvement of TC relay fidelity.

  3. Can patients with Parkinson's disease use dry powder inhalers during off periods?

    NARCIS (Netherlands)

    Luinstra, M.; Rutgers, A.W.F.; Dijkstra, H.; Grasmeijer, F.; Hagedoorn, P.; Vogelzang, J.M.J.; Frijlink, H.W.; De Boer, A.H.

    2015-01-01

    Because of its rapid onset of action, pulmonary administration of levodopa is an interesting alternative to oral administration for the rescue treatment of Parkinson's disease patients in an off period. We studied the ability of Parkinson's disease patients to operate a dry powder inhaler (DPI)

  4. Genetics Home Reference: myoclonus-dystonia

    Science.gov (United States)

    ... often develop psychological disorders such as depression, anxiety, panic attacks, and obsessive-compulsive disorder (OCD). Related Information ... for This Condition dystonia 11 DYT11 myoclonus-dystonia syndrome Related Information How are genetic conditions and genes ...

  5. Muscle Selection for Focal Limb Dystonia

    OpenAIRE

    Barbara Illowsky Karp; Katharine Alter

    2017-01-01

    Selection of muscles for botulinum toxin injection for limb dystonia is particularly challenging. Limb dystonias vary more widely in the pattern of dystonic movement and involved muscles than cervical dystonia or blepharospasm. The large variation in how healthy individuals perform skilled hand movements, the large number of muscles in the hand and forearm, and the presence of compensatory actions in patients with dystonia add to the complexity of choosing muscles for injection. In this artic...

  6. Temporomandibular disorders in patients with craniocervical dystonia

    OpenAIRE

    Costa,André L.; Campos, Lidiane S.; Marcondes C. França Jr.; Anelyssa D'Abreu

    2011-01-01

    Temporomandibular disorders are a set of musculoskeletal dysfunctions within the masticatory system, with multiple etiologies. Objective: Since craniocervical dystonia can involye the same neuromuscular structure as the temporomandibular joint, we sought to assess the correlation between temporomandibular disorders and craniocervical dystonia. Method: We applied the Research Diagnostic Criteria for Temporomandibular Disorders to 42 patients with craniocervical dystonia, in order to identify o...

  7. Task-specific dystonia : pathophysiology and management

    NARCIS (Netherlands)

    Sadnicka, Anna; Kassavetis, Panagiotis; Parees, Isabel; Meppelink, Anne; Butler, Katherine; Edwards, Mark

    Task-specific dystonia is a form of isolated focal dystonia with the peculiarity of being displayed only during performance of a specific skilled motor task. This distinctive feature makes task-specific dystonia a particularly mysterious and fascinating neurological condition. In this review, we

  8. Reperfusion does not improve impaired rapid-onset cortical plasticity in patients with severe stenosis of the internal carotid artery.

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    Jonathan List

    Full Text Available BACKGROUND: Severe stenosis of the internal carotid artery (ICA has been associated with impaired cognition in patients, but its effect on rapid-onset cortical plasticity is not known. Carotid endarterectomy (CEA in patients with severe ICA stenosis reduces stroke risk, but the impact on cognition or physiology of the respective hemisphere remains controversial. METHODS/RESULTS: 16 patients with severe stenosis of the ICA and 16 age and sex matched controls were included. Rapid-onset cortical plasticity was assessed using the paired-associative stimulation (PAS protocol. PAS models long-term synaptic potentiation in human motor cortex, combining repetitive stimulation of the peripheral ulnar nerve with transcranial magnetic stimulation of the contralateral motor cortex. Cognitive status was assessed with a neuropsychological test battery. In patients, verbal learning and rapid-onset cortical plasticity were significantly reduced as compared to controls. Identical follow-up tests in 9 of the 16 patients six months after CEA revealed no improvement of cognitive parameters or cortical plasticity. CONCLUSIONS: Decreased rapid-onset cortical plasticity in patients with severe stenosis of the ICA was not improved by reperfusion. Thus, other strategies known to increase plasticity should be tested for their potential to improve cortical plasticity and subsequently cognition in these patients.

  9. Neuropathology of cervical dystonia.

    Science.gov (United States)

    Prudente, C N; Pardo, C A; Xiao, J; Hanfelt, J; Hess, E J; Ledoux, M S; Jinnah, H A

    2013-03-01

    The aim of this study was to search for neuropathological changes in postmortem brain tissue of individuals with cervical dystonia (CD). Multiple regions of formalin-preserved brains were collected from patients with CD and controls and examined with an extensive battery of histopathological stains in a two-stage study design. In stage one, 4 CD brains underwent a broad screening neuropathological examination. In stage two, these 4 CD brains were combined with 2 additional CD brains, and the subjective findings were quantified and compared to 16 age-matched controls. The initial subjective neuropathological assessment revealed only two regions with relatively consistent changes. The substantia nigra had frequent ubiquitin-positive intranuclear inclusions known as Marinesco bodies. Additionally, the cerebellum showed patchy loss of Purkinje cells, areas of focal gliosis and torpedo bodies. Other brain regions showed minor or inconsistent changes. In the second stage of the analysis, quantitative studies failed to reveal significant differences in the numbers of Marinesco bodies in CD versus controls, but confirmed a significantly lower Purkinje cell density in CD. Molecular investigations revealed 4 of the CD cases and 2 controls to harbor sequence variants in non-coding regions of THAP1, and these cases had lower Purkinje cell densities regardless of whether they had CD. The findings suggest that subtle neuropathological changes such as lower Purkinje cell density may be found in primary CD when relevant brain regions are investigated with appropriate methods. Copyright © 2012 Elsevier Inc. All rights reserved.

  10. Psychiatric disorders in primary focal dystonia and in Parkinson’s disease

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    Fernando MV Dias

    2011-03-01

    Full Text Available Fernando MV Dias1, Arthur Kummer1, Flávia CP Doyle2, Estefânia Harsányi1, Francisco Cardoso2, Leonardo F Fontenelle3, Antônio Lúcio Teixeira11Neuropsychiatric Branch, 2Movement Disorders Clinic, Neurology Unit, University Hospital, Federal University of Minas Gerais, Belo Horizonte; 3Department of Psychiatry, Federal University of Rio de Janeiro, Rio de Janeiro, BrazilBackground: Primary focal dystonia and Parkinson’s disease are movement disorders that have contrasting motor phenotypes. The aim of this study was to compare the frequency and the severity of psychiatric disorders in primary focal dystonia and Parkinson's disease.Methods: Two groups of 30 patients matched by gender and age underwent a neurological and psychiatric assessment.Results: Parkinson’s disease patients were diagnosed with higher rates of major depression (P = 0.02 and generalized anxiety disorder (P = 0.02, and greater severity of depressive symptoms (P = 0.04, while patients with primary focal dystonia exhibited increased severity of obsessive-compulsive symptoms (P = 0.02.Discussion: The difference in pathophysiology of primary focal dystonia and Parkinson’s disease may explain the different psychiatric profiles of these two diseases. The increased frequency of affective symptoms in Parkinson’s disease may be related to the fact that Parkinson's disease is a neurodegenerative disease marked by the loss of monoaminergic neurons which does not happen in primary focal dystonia.Conclusion: The psychiatric profile differs in movement disorders with distinct neurobiological bases.Keywords: focal dystonia, Parkinson’s disease, neuropsychiatry, depression, obsessive-compulsive disorder

  11. Muscle Selection for Focal Limb Dystonia

    Directory of Open Access Journals (Sweden)

    Barbara Illowsky Karp

    2017-12-01

    Full Text Available Selection of muscles for botulinum toxin injection for limb dystonia is particularly challenging. Limb dystonias vary more widely in the pattern of dystonic movement and involved muscles than cervical dystonia or blepharospasm. The large variation in how healthy individuals perform skilled hand movements, the large number of muscles in the hand and forearm, and the presence of compensatory actions in patients with dystonia add to the complexity of choosing muscles for injection. In this article, we discuss approaches to selecting upper and lower extremity muscles for chemodenervation treatment of limb dystonia.

  12. Muscle Selection for Focal Limb Dystonia.

    Science.gov (United States)

    Karp, Barbara Illowsky; Alter, Katharine

    2017-12-29

    Selection of muscles for botulinum toxin injection for limb dystonia is particularly challenging. Limb dystonias vary more widely in the pattern of dystonic movement and involved muscles than cervical dystonia or blepharospasm. The large variation in how healthy individuals perform skilled hand movements, the large number of muscles in the hand and forearm, and the presence of compensatory actions in patients with dystonia add to the complexity of choosing muscles for injection. In this article, we discuss approaches to selecting upper and lower extremity muscles for chemodenervation treatment of limb dystonia.

  13. Improvement of Primary Writing Tremor in Parkinson's Disease with Carbidopa/Levodopa.

    Science.gov (United States)

    Battista, James P; Greene, Paul E

    2015-01-01

    Primary writing tremor is a task-specific phenomenon that has been described as variants of essential tremor or dystonia. We describe the case of a 63-year-old female who initially had primary writing tremor, later developed Parkinson's disease, and once initiated on carbidopa/levodopa had improvement in her parkinsonism and her writing tremor. As neither essential tremor nor typical brachial dystonia respond to carbidopa/levodopa, our case documents that at least some cases of primary writing tremor are not variants of either dystonia or essential tremor.

  14. An improved design of water-soluble propofol prodrugs characterized by rapid onset of action.

    Science.gov (United States)

    Lang, Bing-Chen; Yang, Jun; Wang, Yu; Luo, Yun; Kang, Yi; Liu, Jin; Zhang, Wen-Sheng

    2014-04-01

    -HCl) had a much shorter onset time when a much lower dose was given. Application of the amino acid group to the propofol prodrug can make the prodrug have good water solubility and a more rapid onset of action. In rat plasma, the 2 improved amino acid prodrugs (HX0969-Ala-HCl, HX0969-Gly-F3) had a more rapid rate of propofol release than the 2 phosphate ester prodrugs (fospropofol, HX0969W). The in vivo tests showed that HX0969-Ala-HCl and HX0969-Gly-F3 given IV could have a more rapid onset of action in a smaller dose than fospropofol and HX0969W. This novel design can enhance the efficiency of prodrugs converting to propofol.

  15. R-ketamine: a rapid-onset and sustained antidepressant without psychotomimetic side effects

    Science.gov (United States)

    Yang, C; Shirayama, Y; Zhang, J-c; Ren, Q; Yao, W; Ma, M; Dong, C; Hashimoto, K

    2015-01-01

    Although the efficacy of racemate ketamine, a rapid onset and sustained antidepressant, for patients with treatment-resistant depression was a serendipitous finding, clinical use of ketamine is limited, due to psychotomimetic side effects and abuse liability. Behavioral and side-effect evaluation tests were applied to compare the two stereoisomers of ketamine. To elucidate their potential therapeutic mechanisms, we examined the effects of these stereoisomers on brain-derived neurotrophic factor (BDNF)–TrkB signaling, and synaptogenesis in selected brain regions. In the social defeat stress and learned helplessness models of depression, R-ketamine showed a greater potency and longer-lasting antidepressant effect than S-ketamine (esketamine). Furthermore, R-ketamine induced a more potent beneficial effect on decreased dendritic spine density, BDNF–TrkB signaling and synaptogenesis in the prefrontal cortex (PFC), CA3 and dentate gyrus (DG) of the hippocampus from depressed mice compared with S-ketamine. However, neither stereoisomer affected these alterations in the nucleus accumbens of depressed mice. In behavioral tests for side effects, S-ketamine, but not R-ketamine, precipitated behavioral abnormalities, such as hyperlocomotion, prepulse inhibition deficits and rewarding effects. In addition, a single dose of S-ketamine, but not R-ketamine, caused a loss of parvalbumin (PV)-positive cells in the prelimbic region of the medial PFC and DG. These findings suggest that, unlike S-ketamine, R-ketamine can elicit a sustained antidepressant effect, mediated by increased BDNF–TrkB signaling and synaptogenesis in the PFC, DG and CA3. R-ketamine appears to be a potent, long-lasting and safe antidepressant, relative to S-ketamine, as R-ketamine appears to be free of psychotomimetic side effects and abuse liability. PMID:26327690

  16. Temporomandibular disorders in patients with craniocervical dystonia

    Directory of Open Access Journals (Sweden)

    André L. Costa

    2011-12-01

    Full Text Available Temporomandibular disorders are a set of musculoskeletal dysfunctions within the masticatory system, with multiple etiologies. OBJECTIVE: Since craniocervical dystonia can involve the same neuromuscular structure as the temporomandibular joint, we sought to assess the correlation between temporomandibular disorders and craniocervical dystonia. METHOD: We applied the Research Diagnostic Criteria for Temporomandibular Disorders to 42 patients with craniocervical dystonia, in order to identify orofacial pain and temporomandibular characteristics on the day of botulinum toxin injection. RESULTS: Twenty-two patients (52.3% reported temporomandibular joint pain; 24 (57.1%, joint sounds; 20 (47.6%, masticatory muscle pain; and 21 (50%, diminished jaw mobility. The patients with oromandibular dystonia presented temporomandibular disorders more frequently than did patients with other types of craniocervical dystonia (p<0.001. CONCLUSION: Temporomandibular disorders occur frequently in patients with oromandibular dystonia. Further studies should address the proper treatment of temporomandibular disorders associated with dystonia.

  17. Changes in resting-state connectivity in musicians with embouchure dystonia.

    Science.gov (United States)

    Haslinger, Bernhard; Noé, Jonas; Altenmüller, Eckart; Riedl, Valentin; Zimmer, Claus; Mantel, Tobias; Dresel, Christian

    2017-03-01

    Embouchure dystonia is a highly disabling task-specific dystonia in professional brass musicians leading to spasms of perioral muscles while playing the instrument. As they are asymptomatic at rest, resting-state functional magnetic resonance imaging in these patients can reveal changes in functional connectivity within and between brain networks independent from dystonic symptoms. We therefore compared embouchure dystonia patients to healthy musicians with resting-state functional magnetic resonance imaging in combination with independent component analyses. Patients showed increased functional connectivity of the bilateral sensorimotor mouth area and right secondary somatosensory cortex, but reduced functional connectivity of the bilateral sensorimotor hand representation, left inferior parietal cortex, and mesial premotor cortex within the lateral motor function network. Within the auditory function network, the functional connectivity of bilateral secondary auditory cortices, right posterior parietal cortex and left sensorimotor hand area was increased, the functional connectivity of right primary auditory cortex, right secondary somatosensory cortex, right sensorimotor mouth representation, bilateral thalamus, and anterior cingulate cortex was reduced. Negative functional connectivity between the cerebellar and lateral motor function network and positive functional connectivity between the cerebellar and primary visual network were reduced. Abnormal resting-state functional connectivity of sensorimotor representations of affected and unaffected body parts suggests a pathophysiological predisposition for abnormal sensorimotor and audiomotor integration in embouchure dystonia. Altered connectivity to the cerebellar network highlights the important role of the cerebellum in this disease. © 2016 International Parkinson and Movement Disorder Society. © 2016 International Parkinson and Movement Disorder Society.

  18. Quality and reporting of guidelines on the diagnosis and management of dystonia.

    Science.gov (United States)

    Tamás, Gertrúd; Abrantes, Catarina; Valadas, Anabela; Radics, Péter; Albanese, Alberto; Tijssen, Marina A J; Ferreira, Joaquim J

    2017-10-20

    The quality of clinical practice guidelines on dystonia has not yet been assessed. Our aim was to appraise the methodological quality of guidelines worldwide and analyze the consistency of their recommendations. We searched for clinical practice guidelines on dystonia diagnosis/treatment in the National Guideline Clearinghouse, PubMed, National Institute for Health and Care Excellence, Guidelines International Network and Web of Science databases. We also searched for guidelines on homepages of international neurological societies. We asked for guidelines from every Management Committee member of the BM1101 COST Action and every member of the International Parkinson and Movement Disorders Society with special interest in dystonia. Fifteen guidelines were evaluated. Among guidelines on treatment, only one from the American Academy of Neurology could be considered as high quality. Among guidelines on diagnosis and therapy, the guideline from the European Federation of Neurological Societies was recommended by the appraisers. Clinical applicability and reports of editorial independence were the greatest shortcomings. The rigor of development was poor, stakeholder involvement were also incomplete in most guidelines. Discrepancies among recommendations may result from the weight given to consensus statements and expert opinions due to the lack of evidence, as well as inaccuracy of disease classification. The quality of appraised guidelines was low. It is necessary to improve the quality of guidelines on dystonia; the applied terminology of dystonia also needs to be standardized. This article is protected by copyright. All rights reserved. This article is protected by copyright. All rights reserved.

  19. Genetics Home Reference: dystonia 6

    Science.gov (United States)

    ... are an additional cause of early-onset dystonia. Neurology. 2010 Mar 9;74(10):846-50. doi: 10.1212/WNL.0b013e3181d5276d. Citation on PubMed or Free article on PubMed Central LeDoux MS, Xiao J, Rudzińska ...

  20. Secondary parkinsonism

    Science.gov (United States)

    Parkinsonism - secondary; Atypical Parkinson disease ... to be less responsive to medical therapy than Parkinson disease. ... Unlike Parkinson disease, some types of secondary parkinsonism may stabilize or even improve if the underlying cause is treated. ...

  1. The Environmental Epidemiology of Primary Dystonia

    Directory of Open Access Journals (Sweden)

    Giovanni Defazio

    2013-04-01

    Full Text Available Background:Dystonia is a movement disorder characterized by involuntary muscle contractions that cause twisting movements and abnormal postures. Primary dystonia is the most common form and is thought to be a multifactorial condition in which one or more genes combine with environmental factors to reach disease.Methods:We reviewed controlled studies on possible environmental risk factors for primary early‐ and late‐onset dystonia.ResultsEnvironmental factors associated with primary early‐onset dystonia are poorly understood. Early childhood illnesses have been reported to be more frequent in patients with DYT1 dystonia than in subjects carrying the DYT1 mutation that did not manifest dystonia, thus raising the possibility that such exposures precipitate dystonia among DYT1 carriers. Conversely, several environmental factors have been associated with primary adult‐onset focal dystonias compared to control subjects. Namely, eye diseases, sore throat, idiopathic scoliosis, and repetitive upper limb motor action seem to be associated with blepharospasm (BSP, laryngeal dystonia (LD, cervical dystonia (CD, and upper limb dystonia, respectively. In addition, an inverse association between coffee drinking and BSP has been observed in both case‐unrelated control and family‐based case‐control studies. Additional evidence supporting a causal link with different forms of primary late‐onset dystonia is only available for diseases of the anterior segment of the eye, writing activity, and coffee intake.ConclusionThere is reasonable epidemiological evidence that some environmental factors are risk‐modifying factors for specific forms of primary adult‐onset focal dystonia.

  2. Plasmapheresis Responsive Rapid Onset Dementia with Predominantly Frontal Dysfunction in the Context of Hashimoto’s Encephalopathy

    Directory of Open Access Journals (Sweden)

    Dominique Endres

    2017-10-01

    Full Text Available BackgroundHashimoto’s encephalopathy (HE is a rare immunological neuropsychiatric disorder characterized by increased antithyroid antibodies and mixed neurological and psychiatric symptoms. HE has been previously discussed as a differential diagnosis for rapid progressive dementia. However, most of these patients suffered from additional neurological symptoms, like ataxia or seizures.Case presentationHere, we present the case of a 59-year-old female patient suffering rapid onset dementia with salient frontal executive dysfunction. She developed rapid onset symptoms, including apathy, verbal depletion up to a stuporous state, severe working memory deficits, evidence of primitive reflexes, disturbed Luria’s three-step test, and micturition disorder. Analysis of her cerebrospinal fluid was normal. The serum analyses showed increased antithyroid (antithyroid peroxidase and antithyroglobulin antibodies. In the cerebral magnetic resonance imaging, supratentorial deep and peripheral white matter lesions were found; the electroencephalography showed intermittent slowing, and the [18F]fluorodeoxyglucose positron emission tomography (FDG-PET depicted medial and superior dorsolateral frontal hypometabolism. Several different psychopharmacological therapeutic approaches with various neuroleptics, antidepressants, and high doses of lorazepam were unsuccessful. Due to the organic alterations, including increased antithyroid antibodies, HE was suspected. Against expectations, treatment with high-dose corticosteroids proved to be ineffective and was associated with worsening symptoms. However, escalated treatment with plasmapheresis over 5 days led to significant improvement in all reported symptoms and in psychometric testing. The neuropsychological improvement was stable over a 6-month follow-up period, and the FDG-PET normalized.ConclusionThis case report reveals that (1 HE can mimic rapid onset dementia with predominantly frontal dysfunction; (2 this

  3. Transiently increased glutamate cycling in rat PFC is associated with rapid onset of antidepressant-like effects

    OpenAIRE

    Chowdhury, Golam M.I.; Zhang, Jie; Thomas, Monique; Banasr, Mounira; Ma, Xiaoxian; Pittman, Brian; Bristow, Linda; Schaeffer, Eric; Duman, Ronald; Rothman, Douglas; Behar, Kevin; Sanacora, Gerard

    2016-01-01

    Several drugs have recently been reported to induce rapid antidepressant effects in clinical trials and rodent models. Although the cellular mechanisms involved remain unclear, reports suggest that increased glutamate transmission contributes to these effects. Here, we demonstrate that the antidepressant-like efficacy of three unique drugs, with reported rapid onset antidepressant properties, is coupled with a rapid transient rise in glutamate cycling in medial prefronal cortex (mPFC) of awak...

  4. Physiologic changes associated with cerebellar dystonia.

    Science.gov (United States)

    Shakkottai, Vikram G

    2014-10-01

    Dystonia is a neurologic disorder characterized by sustained involuntary muscle contractions. Lesions responsible for unilateral secondary dystonia are confined to the putamen, caudate, globus pallidus, and thalamus. Dysfunction of these structures is suspected to play a role in both primary and secondary dystonia. Recent evidence has suggested that the cerebellum may play a role in the pathophysiology of dystonia. The role of the cerebellum in ataxia, a disorder of motor incoordination is well established. How may the cerebellum contribute to two apparently very different movement disorders? This review will discuss the idea of whether in some cases, ataxia and dystonia lie in the same clinical spectrum and whether graded perturbations in cerebellar function may explain a similar causative role for the cerebellum in these two different motor disorders. The review also proposes a model for cerebellar dystonia based on the available animal models of this disorder.

  5. Anatomy and cervical dystonia : "Dysfunction follows form".

    Science.gov (United States)

    Tatu, L; Jost, W H

    2017-02-01

    At first glance, cervical dystonia might be an illustration of the well-known proposition "function follows form". Nevertheless, cervical dystonia is a highly non-physiological condition, which cannot be reproduced by healthy subjects and does not respond to the usual physiological rules. "Dysfunction follows form" might be the most accurate aphorism to define cervical dystonia. Taking into account this situation and recent insights, the anatomic approach needs to be adapted to allow a better understanding of semiology and to improve botulinum toxin therapy. In this review dealing with a new approach to cervical dystonia, we develop some practical anatomical concepts concerning the head and neck complex. Knowledge of cervical spine and muscular dysfunctions in cervical dystonia is an essential stage in treating cervical dystonia patients with botulinum toxin.

  6. Dissecting the links between cerebellum and dystonia.

    Science.gov (United States)

    Malone, Ailish; Manto, Mario; Hass, Chris

    2014-12-01

    Dystonia is a common movement disorder characterized by sustained muscle contractions. These contractions generate twisting and repetitive movements or typical abnormal postures, often exacerbated by voluntary movement. Dystonia can affect almost all the voluntary muscles. For several decades, the discussion on the pathogenesis has been focused on basal ganglia circuits, especially striatal networks. So far, although dystonia has been observed in some forms of ataxia such as dominant ataxias, the link between the cerebellum and dystonia has remained unclear. Recent human studies and experimental data mainly in rodents show that the cerebellum circuitry could also be a key player in the pathogenesis of some forms of dystonia. In particular, studies based on behavioral adaptation paradigm shed light on the links between dystonia and cerebellum. The spectrum of movement disorders in which the cerebellum is implicated is continuously expanding, and manipulation of cerebellar circuits might even emerge as a candidate therapy in the coming years.

  7. Natural history of posttraumatic cervical dystonia.

    Science.gov (United States)

    Frei, Karen P; Pathak, Mayank; Jenkins, Stephen; Truong, Daniel D

    2004-12-01

    We studied a case series of 9 patients with posttraumatic cervical dystonia, in whom involuntary muscle spasms and abnormal head postures occurred within 7 days after cervical injury. Patients were examined, treated with botulinum toxin as necessary, and were followed up to 5 years. Based on our observations of these cases, we propose that complex regional pain syndrome (CRPS) could represent a variant of posttraumatic cervical dystonia that may develop over time after the initiation of dystonia. 2004 Movement Disorder Society.

  8. Dystonia and ataxia progression in spinocerebellar ataxias.

    Science.gov (United States)

    Kuo, Pei-Hsin; Gan, Shi-Rui; Wang, Jie; Lo, Raymond Y; Figueroa, Karla P; Tomishon, Darya; Pulst, Stefan M; Perlman, Susan; Wilmot, George; Gomez, Christopher M; Schmahmann, Jeremy D; Paulson, Henry; Shakkottai, Vikram G; Ying, Sarah H; Zesiewicz, Theresa; Bushara, Khalaf; Geschwind, Michael D; Xia, Guangbin; Subramony, S H; Ashizawa, Tetsuo; Kuo, Sheng-Han

    2017-10-23

    Dystonia is a common feature in spinocerebellar ataxias (SCAs). Whether the presence of dystonia is associated with different rate of ataxia progression is not known. To study clinical characteristics and ataxia progression in SCAs with and without dystonia. We studied 334 participants with SCA 1, 2, 3 and 6 from the Clinical Research Consortium for Spinocerebellar Ataxias (CRC-SCA) and compared the clinical characteristics of SCAs with and without dystonia. We repeatedly measured ataxia progression by the Scale for Assessment and Rating of Ataxia every 6 months for 2 years. Regression models were employed to study the association between dystonia and ataxia progression after adjusting for age, sex and pathological CAG repeats. We used logistic regression to analyze the impact of different repeat expansion genes on dystonia in SCAs. Dystonia was most commonly observed in SCA3, followed by SCA2, SCA1, and SCA6. Dystonia was associated with longer CAG repeats in SCA3. The CAG repeat number in TBP normal alleles appeared to modify the presence of dystonia in SCA1. The presence of dystonia was associated with higher SARA scores in SCA1, 2, and 3. Although relatively rare in SCA6, the presence of dystonia was associated with slower progression of ataxia. The presence of dystonia is associated with greater severity of ataxia in SCA1, 2, and 3, but predictive of a slower progression in SCA6. Complex genetic interactions among repeat expansion genes can lead to diverse clinical symptoms and progression in SCAs. Copyright © 2017 Elsevier Ltd. All rights reserved.

  9. Programming Deep Brain Stimulation for Tremor and Dystonia: The Toronto Western Hospital Algorithms.

    Science.gov (United States)

    Picillo, Marina; Lozano, Andres M; Kou, Nancy; Munhoz, Renato Puppi; Fasano, Alfonso

    2016-01-01

    Deep brain stimulation (DBS) is an effective treatment for essential tremor (ET) and dystonia. After surgery, a number of extensive programming sessions are performed, mainly relying on neurologist's personal experience as no programming guidelines have been provided so far, with the exception of recommendations provided by groups of experts. Finally, fewer information is available for the management of DBS in ET and dystonia compared with Parkinson's disease. Our aim is to review the literature on initial and follow-up DBS programming procedures for ET and dystonia and integrate the results with our current practice at Toronto Western Hospital (TWH) to develop standardized DBS programming protocols. We conducted a literature search of PubMed from inception to July 2014 with the keywords "balance", "bradykinesia", "deep brain stimulation", "dysarthria", "dystonia", "gait disturbances", "initial programming", "loss of benefit", "micrographia", "speech", "speech difficulties" and "tremor". Seventy-six papers were considered for this review. Based on the literature review and our experience at TWH, we refined three algorithms for management of ET, including: (1) initial programming, (2) management of balance and speech issues and (3) loss of stimulation benefit. We also depicted algorithms for the management of dystonia, including: (1) initial programming and (2) management of stimulation-induced hypokinesia (shuffling gait, micrographia and speech impairment). We propose five algorithms tailored to an individualized approach to managing ET and dystonia patients with DBS. We encourage the application of these algorithms to supplement current standards of care in established as well as new DBS centers to test the clinical usefulness of these algorithms in supplementing the current standards of care. Copyright © 2016 Elsevier Inc. All rights reserved.

  10. Cognition in Childhood Dystonia : A systematic review

    NARCIS (Netherlands)

    Coenen, Maraike; Eggink, Hendriekje; Tijssen, M.A.; Spikman, Jacoba

    2017-01-01

    Background and aim: Cognitive impairments have been established as part of the non-motor phenomenology of adult dystonia. In childhood dystonia, the extent of cognitive impairments is less clear. This systematic review aims at presenting an overview over the existing literature to elucidate the

  11. RELN rare variants in myoclonus-dystonia

    NARCIS (Netherlands)

    Groen, Justus L.; Ritz, Katja; Jalalzadeh, Hamid; van der Salm, Sandra M. A.; Jongejan, Aldo; Mook, Olaf R.; Haagmans, Martin A.; Zwinderman, Aeilko H.; Motazacker, Mahdi M.; Hennekam, Raoul C.; Baas, Frank; Tijssen, Marina A. J.

    BACKGROUND: Myoclonus-dystonia (M-D) is a hyperkinetic movement disorder with predominant myoclonic symptoms combined with dystonia of the upper part of the body. A proportion of M-D cases are caused by mutations in the epsilon-sarcoglycan gene. In remaining M-D patients, no genetic factor has been

  12. Nine Years with Munchausen Syndrome: A Case of Psychogenic Dystonia.

    Science.gov (United States)

    Cakmak, Mirac A; Sahin, Sevki; Cinar, Nilgun; Tiyekli, Utkan; Karsidag, Sibel

    2015-01-01

    Munchausen syndrome presenting with psychogenic dystonia is a rare condition. A psychogenic dystonia case presenting with an acute onset of retrocollis, lower limb dystonia and bizarre gait was diagnosed as Munchausen syndrome. Recognizing psychogenic dystonia avoids unnecessary investigations and provides successful treatment.

  13. A case of rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, and neural crest tumor: ROHHADNET syndrome.

    Science.gov (United States)

    Abaci, Ayhan; Catli, Gonul; Bayram, Erhan; Koroglu, Tolga; Olgun, Hatice Nur; Mutafoglu, Kamer; Hiz, Ayse Semra; Cakmakci, Handan; Bober, Ece

    2013-01-01

    Rapid-onset obesity with hypoventilation, hypothalamic dysfunction, and autonomic dysregulation (ROHHAD) is a rare disorder that mimics both common obesity and genetic obesity syndromes along with several endocrine disorders during early childhood. We aim to present the clinical features, laboratory and imaging results, and treatment outcomes of a patient with ROHHAD syndrome. In this case report, we describe a 26-month-old boy who was admitted to our emergency department with dyspnea and cyanosis and was suspected to have ROHHAD syndrome due to his rapid-onset obesity and alveolar hypoventilation. A thoracal and abdominal magnetic resonance imaging was performed to demonstrate a possible accompanying neural crest tumor and it provided a yet asymptomatic retroperitoneal ganglioneuroblastoma. Based on these findings, the patient was diagnosed as ROHHADNET syndrome. Because of the high prevalence of cardiorespiratory arrest and probability of accompanying tumors, early recognition of ROHHAD syndrome is important. To prevent presumptive mortality and morbidity, ROHHAD syndrome should be considered in all cases of rapid and early-onset obesity associated with hypothalamic-pituitary endocrine dysfunctions.

  14. Clinicopathological Phenotype and Genetics of X-Linked Dystonia–Parkinsonism (XDP; DYT3; Lubag

    Directory of Open Access Journals (Sweden)

    Toshitaka Kawarai

    2017-06-01

    Full Text Available X-linked dystonia–parkinsonism (XDP; OMIM314250, also referred to as DYT3 dystonia or “Lubag” disease, was first described as an endemic disease in the Philippine island of Panay. XDP is an adult-onset movement disorder characterized by progressive and severe dystonia followed by overt parkinsonism in the later years of life. Among the primary monogenic dystonias, XDP has been identified as a transcriptional dysregulation syndrome with impaired expression of the TAF1 (TATA box-binding protein associated factor 1 gene, which is a critical component of the cellular transcription machinery. The major neuropathology of XDP is progressive neuronal loss in the neostriatum (i.e., the caudate nucleus and putamen. XDP may be used as a human disease model to elucidate the pathomechanisms by which striatal neurodegeneration leads to dystonia symptoms. In this article, we introduce recent advances in the understanding of the interplay between pathophysiology and genetics in XDP.

  15. Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

    OpenAIRE

    Alberto Albanese; Francesca Del Sorbo

    2016-01-01

    Background: Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods: Known form...

  16. Enhanced mu opioid receptor-dependent opioidergic modulation of striatal cholinergic transmission in DYT1 dystonia.

    Science.gov (United States)

    Ponterio, Giulia; Tassone, Annalisa; Sciamanna, Giuseppe; Vanni, Valentina; Meringolo, Maria; Santoro, Massimo; Mercuri, Nicola Biagio; Bonsi, Paola; Pisani, Antonio

    2017-11-18

    Mu opioid receptor activation modulates acetylcholine release in the dorsal striatum, an area deeply involved in motor function, habit formation, and reinforcement learning as well as in the pathophysiology of different movement disorders, such as dystonia. Although the role of opioids in drug reward and addiction is well established, their involvement in motor dysfunction remains largely unexplored. We used a multidisciplinary approach to investigate the responses to mu activation in 2 mouse models of DYT1 dystonia (Tor1a+/Δgag mice, Tor1a+/- torsinA null mice, and their respective wild-types). We performed electrophysiological recordings to characterize the pharmacological effects of receptor activation in cholinergic interneurons as well as the underlying ionic currents. In addition, an analysis of the receptor expression was performed both at the protein and mRNA level. In mutant mice, selective mu receptor activation caused a stronger G-protein-dependent, dose-dependent inhibition of firing activity in cholinergic interneurons when compared with controls. In Tor1a+/- mice, our electrophysiological analysis showed an abnormal involvement of calcium-activated potassium channels. Moreover, in both models we found increased levels of mu receptor protein. In addition, both total mRNA and the mu opioid receptor splice variant 1S (MOR-1S) splice variant of the mu receptor gene transcript, specifically enriched in striatum, were selectively upregulated. Mice with the DYT1 dystonia mutation exhibit an enhanced response to mu receptor activation, dependent on selective receptor gene upregulation. Our data suggest a novel role for striatal opioid signaling in motor control, and more important, identify mu opioid receptors as potential targets for pharmacological intervention in dystonia. © 2017 International Parkinson and Movement Disorder Society. © 2017 International Parkinson and Movement Disorder Society.

  17. Sertraline induced mandibular dystonia and bruxism

    National Research Council Canada - National Science Library

    Uvais, NA; Sreeraj, VS; Sathish Kumar, SV

    2016-01-01

    .... Here, we describe a young female patient with a diagnosis of the moderate depressive episode who developed mandibular dystonia and bruxism with sertraline in the absence of concurrent prescription...

  18. Descriptive Epidemiology of Cervical Dystonia

    Directory of Open Access Journals (Sweden)

    Giovanni Defazio

    2013-11-01

    Full Text Available Background: Cervical dystonia (CD, the most common form of adult‐onset focal dystonia, has a heterogeneous clinical presentation with variable clinical features, leading to difficulties and delays in diagnosis. Owing to the lack of reviews specifically focusing on the frequency of primary CD in the general population, we performed a systematic literature search to examine its prevalence/incidence and analyze methodological differences among studies. Methods: We performed a systematic literature search to examine the prevalence data of primary focal CD. Sixteen articles met our methodological criteria. Because the reported prevalence estimates were found to vary widely across studies, we analyzed methodological differences and other factors to determine whether true differences exist in prevalence rates among geographic areas (and by gender and age distributions, as well as to facilitate recommendations for future studies.Results: Prevalence estimates ranged from 20–4,100 cases/million. Generally, studies that relied on service‐based and record‐linkage system data likely underestimated the prevalence of CD, whereas population‐based studies suffered from over‐ascertainment. The more methodologically robust studies yielded a range of estimates of 28–183 cases/million. Despite the varying prevalence estimates, an approximate 2:1 female:male ratio was consistent among many studies. Three studies estimated incidence, ranging from 8–12 cases/million person‐years. Discussion: Although several studies have attempted to estimate the prevalence and incidence of CD, there is a need for additional well‐designed epidemiological studies on primary CD that include large populations; use defined CD diagnostic criteria; and stratify for factors such as age, gender, and ethnicity.

  19. Parkinson's Foundation

    Science.gov (United States)

    ... and passion of our global Parkinson's community. About Parkinson's Parkinson’s disease is a neurodegenerative brain disorder. There ... treatment options to manage symptoms. Learn More About Parkinson's Parkinson’s disease is a neurodegenerative brain disorder. There ...

  20. Dystonias

    Science.gov (United States)

    ... generator into specific brain regions that control movement. Controlled amounts of electricity are sent into the exact ... Page NINDS Opsoclonus Myoclonus Information Page NINDS Orthostatic Hypotension Information Page NINDS Paraneoplastic Syndromes Information Page NINDS ...

  1. Genetics Home Reference: early-onset primary dystonia

    Science.gov (United States)

    ... as seizures or a loss of intellectual function (dementia). Early-onset primary dystonia does not affect a person's intelligence. ... Diagnosis & Management Resources Genetic Testing (1 link) ... Isolated Dystonia MedlinePlus Encyclopedia: Movement - uncontrolled or slow ...

  2. Developing Gene Silencing for the Study and Treatment of Dystonia

    Science.gov (United States)

    2015-11-01

    cause abnormal twisting postures. DYT1 dystonia is an autosomal dominant disease with onset of dystonia during childhood . The most common early onset...DYT1 dystonia, an autosomal dominant disease, the most common early onset inherited dystonia. DYT1 is caused by a common deletion of a single amino...on technology transfer? Nothing to Report. What was the impact on society beyond science and technology ? Nothing to Report. 5. CHANGES

  3. Rapid onset of comorbidity of common mental disorders: findings from the Netherlands Mental Health Survey and Incidence Study (NEMESIS).

    Science.gov (United States)

    de Graaf, R; Bijl, R V; ten Have, M; Beekman, A T F; Vollebergh, W A M

    2004-01-01

    In a cohort of subjects with no history of psychopathology, we determined a 3-year incidence and the risk factors of comorbid and pure mood, anxiety and substance use disorders. Data were obtained from the Netherlands Mental Health Survey and Incidence Study (NEMESIS), a longitudinal community study in which 4796 adults were interviewed in 1996, 1997 and 1999 with the Composite International Diagnostic Interview. Of 2869 cases at risk, 10.8% developed an incident disorder within 3 years, of which 16.1% was comorbid. Neuroticism, childhood trauma and parental psychiatric history were more strongly associated with comorbid than with pure disorders. No differences emerged in events occurring in the first year after baseline, but events in the period thereafter showed markedly stronger associations with comorbidity and pure mood disorder than with pure anxiety and substance use disorder. Functional disability was also linked more strongly to comorbidity and pure mood disorder. Clear risk factors exist for the rapid onset of comorbidity. Interventions are needed to prevent rapid comorbidity in subjects who recently developed a primary disorder.

  4. Foodborne transmission of bovine spongiform encephalopathy to non-human primates results in preclinical rapid-onset obesity.

    Directory of Open Access Journals (Sweden)

    Alexander Strom

    Full Text Available Obesity has become one of the largest public health challenges worldwide. Recently, certain bacterial and viral pathogens have been implicated in the pathogenesis of obesity. In the present study, we retrospectively analyzed clinical data, plasma samples and post-mortem tissue specimens derived from a risk assessment study in bovine spongiform encephalopathy (BSE-infected female cynomolgus monkeys (Macaca fascicularis. The original study design aimed to determine minimal infectious doses after oral or intracerebral (i.c. infection of macaques to assess the risk for humans. High-dose exposures resulted in 100% attack rates and a median incubation time of 4.7 years as described previously. Retrospective analyses of clinical data from high-dosed macaques revealed that foodborne BSE transmission caused rapid weight gain within 1.5 years post infection (β = 0.915; P<0.0001 which was not seen in age- and sex-matched control animals or i.c. infected animals. The rapid-onset obesity was not associated with impaired pancreatic islet function or glucose metabolism. In the early preclinical phase of oral transmission associated with body weight gain, prion accumulation was confined to the gastrointestinal tract. Intriguingly, immunohistochemical findings suggest that foodborne BSE transmission has a pathophysiological impact on gut endocrine cells which may explain rapid weight gain. To our knowledge, this is the first experimental model which clearly demonstrates that foodborne pathogens can induce obesity.

  5. The prognosis of fixed dystonia: a follow-up study.

    NARCIS (Netherlands)

    Ibrahim, N.M.; Martino, D.; Warrenburg, B.P.C. van de; Quinn, N.P.; Bhatia, K.P.; Brown, R.J.; Trimble, M.; Schrag, A.

    2009-01-01

    BACKGROUND: The syndrome of fixed dystonia includes both CRPS-dystonia and psychogenic dystonia. The underlying mechanisms are unclear, but a high prevalence of neuropsychiatric illness has previously been reported. METHODS: Clinical and neuropsychiatric follow-up study by telephone and

  6. Botulinum toxin treatment of cranial-cervical dystonia, spasmodic dysphonia, other focal dystonias and hemifacial spasm.

    Science.gov (United States)

    Jankovic, J; Schwartz, K; Donovan, D T

    1990-01-01

    In the past five years, 477 patients with various focal dystonias and hemifacial spasm received 3,806 injections of botulinum A toxin for relief of involuntary spasms. A definite improvement with a global rating greater than or equal to 2 on a 0-4 scale, was obtained in all 13 patients with spasmodic dysphonia, 94% of 70 patients with blepharospasm, 92% of 13 patients with hemifacial spasm, 90% of 195 patients with cervical dystonia, 77% of 22 patients with hand dystonia, 73% of 45 patients with oromandibular dystonia, and in 90% of 21 patients with other focal dystonia who had adequate follow up. While the average duration of maximum improvement lasted about 11 weeks after an injection (range seven weeks in patients with hand dystonia to 15 weeks in patients with hemifacial spasm), some patients benefited for over a year. Only 16% of the 941 treatment visits with follow up were not successful. Except for transient focal weakness, there were very few complications or systemic effects attributed to the injections. This study supports the conclusion that botulinum toxin injections are a safe and effective therapy for patients with focal dystonia and hemifacial spasm. Images PMID:2213039

  7. Modafinil Induces Rapid-Onset Behavioral Sensitization and Cross-Sensitization with Cocaine in Mice: Implications for the Addictive Potential of Modafinil.

    Science.gov (United States)

    Wuo-Silva, Raphael; Fukushiro, Daniela F; Hollais, André W; Santos-Baldaia, Renan; Mári-Kawamoto, Elisa; Berro, Laís F; Yokoyama, Thaís S; Lopes-Silva, Leonardo B; Bizerra, Carolina S; Procópio-Souza, Roberta; Hashiguchi, Debora; Figueiredo, Lilian A; Costa, Jose L; Frussa-Filho, Roberto; Longo, Beatriz M

    2016-01-01

    There is substantial controversy about the addictive potential of modafinil, a wake-promoting drug used to treat narcolepsy, proposed as pharmacotherapy for cocaine abuse, and used indiscriminately by healthy individuals due to its positive effects on arousal and cognition. The rapid-onset type of behavioral sensitization (i.e., a type of sensitization that develops within a few hours from the drug priming administration) has been emerged as a valuable tool to study binge-like patterns of drug abuse and the neuroplastic changes that occur quickly after drug administration that ultimately lead to drug abuse. Our aim was to investigate the possible development of rapid-onset behavioral sensitization to modafinil and bidirectional rapid-onset cross-sensitization with cocaine in male Swiss mice. A priming injection of a high dose of modafinil (64 mg/kg) induced rapid-onset behavioral sensitization to challenge injections of modafinil at the doses of 16, 32, and 64 mg/kg, administered 4 h later. Furthermore, rapid-onset cross-sensitization was developed between modafinil and cocaine (64 mg/kg modafinil and 20 mg/kg cocaine), in a bidirectional way. These results were not due to residual levels of modafinil as the behavioral effects of the priming injection of modafinil were no longer present and modafinil plasma concentration was reduced at 4 h post-administration. Taken together, the present findings provide preclinical evidence that modafinil can be reinforcing per se and can enhance the reinforcing effects of stimulants like cocaine within hours after administration.

  8. MODAFINIL INDUCES RAPID-ONSET BEHAVIORAL SENSITIZATION AND CROSS-SENSTIZATION WITH COCAINE IN MICE: IMPLICATIONS FOR THE ADDICTIVE POTENTIAL OF MODAFINIL

    Directory of Open Access Journals (Sweden)

    Raphael Wuo-Silva

    2016-11-01

    Full Text Available There is substantial controversy about the addictive potential of modafinil, a wake-promoting drug used to treat narcolepsy, proposed as pharmacotherapy for cocaine abuse, and used indiscriminately by healthy individuals due to its positive effects on arousal and cognition. The rapid-onset type of behavioral sensitization (i.e., a type of sensitization that develops within a few hours from the drug priming administration has been emerged as a valuable tool to study binge-like patterns of drug abuse and the neuroplastic changes that occur quickly after drug administration that ultimately lead to drug abuse. Our aim was to investigate the possible development of rapid-onset behavioral sensitization to modafinil and bidirectional rapid-onset cross-sensitization with cocaine in male Swiss mice. A priming injection of a high dose of modafinil (64 mg/kg induced rapid-onset behavioral sensitization to challenge injections of modafinil at the doses of 16 mg/kg, 32 mg/kg, and 64 mg/kg, administered 4h later. Furthermore, rapid-onset cross-sensitization was developed between modafinil and cocaine (64 mg/kg modafinil and 20 mg/kg cocaine, in a bidirectional way. These results were not due to residual levels of modafinil as the behavioral effects of the priming injection of modafinil were no longer present and modafinil plasma concentration was reduced at 4h post-administration. Taken together, the present findings provide preclinical evidence that modafinil can be reinforcing per se and can enhance the reinforcing effects of stimulants like cocaine within hours after administration.

  9. Dystonia Associated with Idiopathic Slow Orthostatic Tremor

    Directory of Open Access Journals (Sweden)

    Christopher Kobylecki

    2016-02-01

    Full Text Available Background: We aimed to characterize the clinical and electrophysiological features of patients with slow orthostatic tremor.Case Report: The clinical and neurophysiological data of patients referred for lower limb tremor on standing were reviewed. Patients with symptomatic or primary orthostatic tremor were excluded. Eight patients were identified with idiopathic slow 4–8 Hz orthostatic tremor, which was associated with tremor and dystonia in cervical and upper limb musculature. Coherence analysis in two patients showed findings different to those seen in primary orthostatic tremor.Discussion: Slow orthostatic tremor may be associated with dystonia and dystonic tremor.

  10. A practical approach to management of focal hand dystonia

    Directory of Open Access Journals (Sweden)

    Sanjay Pandey

    2015-01-01

    Full Text Available Dystonia can be focal, segmental, multifocal, generalized, or hemidystonia. Focal dystonia is localized to a specific part of the body. Overall upper limb is more commonly involved in focal dystonia than lower limb and since it starts from hand, focal hand dystonia (FHD is a more accepted terminology. Writer′s cramp and musician dystonia are commonest types of FHD. Typically this dystonia is task specific, but in some patients this specificity may be lost over a period of time. Segmental or generalized dystonia may also start as FHD, so a detailed clinical assessment is required, which should be supplemented by relevant investigations. Treatment includes oral medications, injection botulinum toxin, neurosurgery including neurostimulation, and rehabilitation. Role of injection botulinum toxin has been extensively studied in writer′s cramp patients and found to be effective; however, selection of muscles and techniques of injection are crucial in getting best results.

  11. Abnormalities of spatial discrimination in focal and generalized dystonia.

    Science.gov (United States)

    Molloy, F M; Carr, T D; Zeuner, K E; Dambrosia, J M; Hallett, M

    2003-10-01

    Sensory processing is impaired in focal hand dystonia (FHD), with most previous studies having evaluated only the symptomatic limb. The purpose of this study was to establish whether the sensory system is affected in other types of dystonias and whether the contralateral hand is also involved in FHD. We used a spatial acuity measure (Johnson-Van Boven-Phillips domes) to evaluate sensory spatial discrimination in both hands of patients with different forms of dystonias including primary generalized DYT1 dystonia (associated with a unique deletion in the DYT1 gene) (n = 13), FHD (n = 15), benign essential blepharospasm (n = 9), cervical dystonia (n = 10) and in age-matched controls. Clinical evaluation included the Fahn dystonia scale for the focal dystonia groups and the Marsden-Burke-Fahn scale for the generalized dystonia group. Spatial discrimination was normal in patients with DYT1 dystonia, despite all of these patients having hand dystonia. However, spatial discrimination thresholds were significantly increased in both hands in the focal dystonia groups (thresholds were similar for each group) and did not correlate significantly with either severity or duration of dystonic symptoms. Thresholds were significantly increased in the dominant hand compared with the non-dominant hand only within the FHD group. Our observations demonstrate involvement of both the dominant and non-dominant somatosensory cortices, and suggest that abnormal sensory processing is a fundamental disturbance in patients with focal dystonia. These findings of altered sensory processing in idiopathic focal but not generalized DYT1 dystonia suggest both a primary pathophysiological role for the phenomenon in focal dystonia and divergent pathophysiological processes in the two conditions.

  12. Beyond the Burke-Fahn-Marsden Dystonia Rating Scale: deep brain stimulation in childhood secondary dystonia.

    Science.gov (United States)

    Gimeno, Hortensia; Tustin, Kylee; Selway, Richard; Lin, Jean-Pierre

    2012-09-01

    Deep brain stimulation is now widely accepted as an effective treatment for children with primary generalized dystonia. More variable results are reported in secondary dystonias and its efficacy in this heterogeneous group has not been fully elucidated. Deep brain stimulation outcomes are typically reported using impairment-focused measures, such as the Burke-Fahn-Marsden Dystonia Rating Scale, which provide little information about function and participation outcomes or changes in non-motor areas. The aim is to demonstrate that in some cases of secondary dystonia, the sole use of impairment level measures, such as the Burke-Fahn-Marsden Dystonia Rating Scale, may be insufficient to fully evaluate outcome following deep brain stimulation. Six paediatric cases who underwent deep brain stimulation surgery with a minimum of one year follow up were selected on the basis of apparent non-response to deep brain stimulation, defined as a clinically insignificant change in the Burke-Fahn-Marsden Dystonia Movement Scale (stimulation, parallel outcome measures demonstrated significant benefit in a range of child and family-centred goal areas including: pain and comfort, school attendance, seating tolerance, access to assistive technology and in some cases carer burden. Sole use of impairment-focused measures, are limited in scope to evaluate outcome following deep brain stimulation, particularly in secondary dystonias. Systematic study of effects across multiple dimensions of disability is needed to determine what deep brain stimulation offers patients in terms of function, participation, care, comfort and quality of life. Deep brain stimulation may offer meaningful change across multiple domains of functioning, disability and health even in the absence of significant change in dystonia rating scales. Copyright © 2012 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  13. Reflex mechanisms in CRPS-related dystonia

    NARCIS (Netherlands)

    Mugge, W.

    2011-01-01

    Complex Regional Pain Syndrome (CRPS) is a disabling syndrome associated with sensory (e.g., burning pain, allodynia, hyperalgesia), autonomic (e.g., edema, skin color and temperature changes), and motor impairments (e.g., tremor, myoclonus, dystonia). Approximately 25% of the patients with CRPS

  14. Bruxism in craniocervical dystonia: a prospective study.

    Science.gov (United States)

    Borie, Laetitia; Langbour, Nicolas; Guehl, Dominique; Burbaud, Pierre; Ella, Bruno

    2016-09-01

    Bruxism pathophysiology remains unclear, and its occurrence has been poorly investigated in movement disorders. The aim of this study was to compare the frequency of bruxism in patients with craniocervical dystonia vs. normal controls and to determine its associated clinical features. This is a prospective-control study. A total of 114 dystonic subjects (45 facial dystonia, 69 cervical dystonia) and 182 controls were included. Bruxism was diagnosed using a hetero-questionnaire and a clinical examination performed by trained dentists. Occurrence of bruxism was compared between the different study populations. A binomial logistic regression analysis was used to determine which clinical features influenced bruxism occurrence in each population. The frequency of bruxism was significantly higher in the dystonic group than in normal controls but there was no difference between facial and cervical dystonia. It was also higher in women than in men. Bruxism features were similar between normal controls and dystonic patients except for a higher score of temporomandibular jaw pain in the dystonic group. The higher frequency of bruxism in dystonic patients suggests that bruxism is increased in patients with basal ganglia dysfunction but that its nature does not differ from that seen in bruxers from the normal population.

  15. Cognition and psychopathology in myoclonus-dystonia

    NARCIS (Netherlands)

    van Tricht, Mirjam J.; Dreissen, Yasmine E. M.; Cath, Danielle; Dijk, Joke M.; Contarino, Maria Fiorella; van der Salm, Sandra M.; Foncke, Elisabeth M. J.; Groen, Justus L.; Schmand, Ben; Tijssen, Marina A. J.

    Objective (1) To study the neuropsychological and psychopathological profile in myoclonus-dystonia (M-D) patients with and without a mutation in the DYT11 gene. (2) To explore whether cognitive and psychiatric impairments are related to severity and duration of motor symptoms. Herewith, this study

  16. Parkinson disease

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/000755.htm Parkinson disease To use the sharing features on this page, please enable JavaScript. Parkinson disease causes certain brain cells to die. These ...

  17. Modafinil Induces Rapid-Onset Behavioral Sensitization and Cross-Sensitization with Cocaine in Mice: Implications for the Addictive Potential of Modafinil

    OpenAIRE

    Raphael Wuo-Silva; Daniela Fukushiro; André Hollais; Renan Baldaia; Elisa Kawamoto; Berro, Lais F. [UNIFESP; Thais Yokoyama; Leonardo Lopes-Silva; Carolina Bizerra; Roberta Procópio-Souza; Debora Hashiguchi; Lilian Figueiredo; Costa,José L.; Roberto Frussa-Filho; Beatriz Monteiro Longo

    2016-01-01

    There is substantial controversy about the addictive potential of modafinil, a wake-promoting drug used to treat narcolepsy, proposed as pharmacotherapy for cocaine abuse, and used indiscriminately by healthy individuals due to its positive effects on arousal and cognition. The rapid-onset type of behavioral sensitization (i.e., a type of sensitization that develops within a few hours from the drug priming administration) has been emerged as a valuable tool to study binge-like patterns of dru...

  18. Dystonia and paroxysmal dyskinesias: under-recognized movement disorders in domestic animals? A comparison with human dystonia/paroxysmal dyskinesias.

    Directory of Open Access Journals (Sweden)

    Angelika eRichter

    2015-11-01

    Full Text Available Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research. Several hyperkinetic movement disorders, described in dogs, horses and cattle, show similarities to these human movement disorders. Although dystonia is regarded as the third most common movement disorder in humans, it is often misdiagnosed because of the heterogeneity of etiology and clinical presentation. Since these conditions are poorly known in veterinary practice, their prevalence may be underestimated in veterinary medicine. In order to attract attention to these movement disorders, i.e. dystonia and paroxysmal dyskinesias associated with dystonia, and to enhance interest in translational research, this review gives a brief overview of the current literature regarding dystonia/paroxysmal dyskinesia in humans, and summarizes similar hereditary movement disorders reported in domestic animals.

  19. Late-onset primary dystonia in Zhejiang province of China: a service-based epidemiological study.

    Science.gov (United States)

    Wang, Li; Chen, Yin; Hu, Beibei; Hu, Xingyue

    2016-01-01

    Dystonia is characterized by sustained muscle contractions, causing repetitive movements and abnormal postures. The epidemiological study of dystonia of Chinese population was limited reported. In this study, we investigated the epidemiology of primary dystonia, and its clinical characteristics in an adult population in China. We identified all dystonia patients from the movement disorders database and botulinum toxin clinic between 2009 and 2013. The medical records were reviewed to verify the diagnosis of dystonia, and demographic and clinical data were collected. A total of 1481 patients with primary dystonia were studied. The most common focal dystonia were blepharospasm (56.4 %), cervical dystonia (36.7 %), limb dystonia (3.4 %), oromandibular dystonia (2.9 %) and laryngeal dystonia (0.6 %). Males with primary dystonia were found to have an earlier age of onset. A female predominance was noted for most of the primary dystonia, with a men to women ratio (M:F) of 1:2.01. The minimum estimate of prevalence of primary dystonia was 27.0 (95 % confidence interval: 25.6-28.3) per million persons in this study. Despite the difference in genetic background and geographic area, the epidemiological features of dystonia in China from our study share most features around the world, such as women dystonia dominance, early-onset age of dystonia with women, etc. But East Asia countries (China and Japan) may share more common features of dystonia.

  20. Research Priorities in Limb and Task-Specific Dystonias

    Directory of Open Access Journals (Sweden)

    Sarah Pirio Richardson

    2017-05-01

    Full Text Available Dystonia, which causes intermittent or sustained abnormal postures and movements, can present in a focal or a generalized manner. In the limbs, focal dystonia can occur in either the upper or lower limbs and may be task-specific causing abnormal motor performance for only a specific task, such as in writer’s cramp, runner’s dystonia, or musician’s dystonia. Focal limb dystonia can be non-task-specific and may, in some circumstances, be associated with parkinsonian disorders. The true prevalence of focal limb dystonia is not known and is likely currently underestimated, leaving a knowledge gap and an opportunity for future research. The pathophysiology of focal limb dystonia shares some commonalities with other dystonias with a loss of inhibition in the central nervous system and a loss of the normal regulation of plasticity, called homeostatic plasticity. Functional imaging studies revealed abnormalities in several anatomical networks that involve the cortex, basal ganglia, and cerebellum. Further studies should focus on distinguishing cause from effect in both physiology and imaging studies to permit focus on most relevant biological correlates of dystonia. There is no specific therapy for the treatment of limb dystonia given the variability in presentation, but off-label botulinum toxin therapy is often applied to focal limb and task-specific dystonia. Various rehabilitation techniques have been applied and rehabilitation interventions may improve outcomes, but small sample size and lack of direct comparisons between methods to evaluate comparative efficacy limit conclusions. Finally, non-invasive and invasive therapeutic modalities have been explored in small studies with design limitations that do not yet clearly provide direction for larger clinical trials that could support new clinical therapies. Given these gaps in our clinical, pathophysiologic, and therapeutic knowledge, we have identified priorities for future research including

  1. Dystonia and Tremor: The Clinical Syndromes with Isolated Tremor

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    Albanese, Alberto; Sorbo, Francesca Del

    2016-01-01

    Background Dystonia and tremor share many commonalities. Isolated tremor is part of the phenomenological spectrum of isolated dystonia and of essential tremor. The occurrence of subtle features of dystonia may allow one to differentiate dystonic tremor from essential tremor. Diagnostic uncertainty is enhanced when no features of dystonia are found in patients with a tremor syndrome, raising the question whether the observed phenomenology is an incomplete form of dystonia. Methods Known forms of syndromes with isolated tremor are reviewed. Diagnostic uncertainties between tremor and dystonia are put into perspective. Results The following isolated tremor syndromes are reviewed: essential tremor, head tremor, voice tremor, jaw tremor, and upper-limb tremor. Their varied phenomenology is analyzed and appraised in the light of a possible relationship with dystonia. Discussion Clinicians making a diagnosis of isolated tremor should remain vigilant for the detection of features of dystonia. This is in keeping with the recent view that isolated tremor may be an incomplete phenomenology of dystonia. PMID:27152246

  2. Living with Parkinson's

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    ... are here Home › Living With Parkinson's Living With Parkinson's While living with Parkinson's can be challenging, there ... life and live well with Parkinson's disease. Managing Parkinson's Read More In Your Area Read More Resources & ...

  3. Parkinson's Disease Videos

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    Full Text Available ... Late Stage Parkinson's Expert Briefings: Impulsive and Compulsive Behaviors in Parkinson's Expert Briefings: Complementary Approaches to Parkinson's Expert Briefings: Understanding Pain in Parkinson's Expert Briefings: The Parkinson's Pipeline 2011: ...

  4. Connectome-Wide Phenotypical and Genotypical Associations in Focal Dystonia.

    Science.gov (United States)

    Fuertinger, Stefan; Simonyan, Kristina

    2017-08-02

    Isolated focal dystonia is a debilitating movement disorder of unknown pathophysiology. Early studies in focal dystonias have pointed to segregated changes in brain activity and connectivity. Only recently has the notion that dystonia pathophysiology may lie in abnormalities of large-scale brain networks appeared in the literature. Here, we outline a novel concept of functional connectome-wide alterations that are linked to dystonia phenotype and genotype. Using a neural community detection strategy and graph theoretical analysis of functional MRI data in human patients with the laryngeal form of dystonia (LD) and healthy controls (both males and females), we identified an abnormally widespread hub formation in LD, which particularly affected the primary sensorimotor and parietal cortices and thalamus. Left thalamic regions formed a delineated functional community that highlighted differences in network topology between LD patients with and without family history of dystonia. Conversely, marked differences in the topological organization of parietal regions were found between phenotypically different forms of LD. The interface between sporadic genotype and adductor phenotype of LD yielded four functional communities that were primarily governed by intramodular hub regions. Conversely, the interface between familial genotype and abductor phenotype was associated with numerous long-range hub nodes and an abnormal integration of left thalamus and basal ganglia. Our findings provide the first comprehensive atlas of functional topology across different phenotypes and genotypes of focal dystonia. As such, this study constitutes an important step toward defining dystonia as a large-scale network disorder, understanding its causative pathophysiology, and identifying disorder-specific markers.SIGNIFICANCE STATEMENT The architecture of the functional connectome in focal dystonia was analyzed in a large population of patients with laryngeal dystonia. Breaking with the

  5. Therapeutic effects of flunitrazepan in dystonias and torticollis preliminary communication

    Directory of Open Access Journals (Sweden)

    Raul Marino Jr.

    1993-06-01

    Full Text Available A new form of clinical treatment is proposed for dystonias and torticollis using flunitrazepan (FN, a powerful agonist of all benzodiazepine receptors of GABA neurons. FN has a specific effect in dystonic patients, specially those in which the hypnotic effect of this drug is absent or diminished, thus suggesting the existence of two different neurochemical categories of dystonias.

  6. Serotonergic perturbations in dystonia disorders a systematic review

    NARCIS (Netherlands)

    Smit, M; Bartels, Anna; van Faassen, M; Kuiper, A; Niezen-Koning, K E; Kema, I P; Dierckx, R A; de Koning, T J; Tijssen, M A

    Dystonia is a hyperkinetic movement disorder characterized by sustained or intermittent muscle contractions. Emerging data describe high prevalences of non-motor symptoms, including psychiatric co-morbidity, as part of the phenotype of dystonia. Basal ganglia serotonin and serotonin-dopamine

  7. Normal eyeblink classical conditioning in patients with fixed dystonia

    NARCIS (Netherlands)

    Janssen, S.; Veugen, L.C.; Hoffland, B.S.; Kassavetis, P.; Rooijen, D.E. van; Stegeman, D.F.; Edwards, M.J.; Hilten, J.J. van; Warrenburg, B.P.C. van de

    2014-01-01

    Fixed dystonia without evidence of basal ganglia lesions or neurodegeneration typically affects young women following minor peripheral trauma. We use eyeblink classical conditioning (EBCC) to study whether cerebellar functioning is abnormal in patients with fixed dystonia, since this is part of the

  8. Clinical characterization of dystonia in adult patients with Huntington's disease.

    Science.gov (United States)

    van de Zande, N A; Massey, T H; McLauchlan, D; Pryce Roberts, A; Zutt, R; Wardle, M; Payne, G C; Clenaghan, C; Tijssen, M A J; Rosser, A E; Peall, K J

    2017-09-01

    Huntington's disease (HD) is an autosomal dominant, neurodegenerative movement disorder, typically characterized by chorea. Dystonia is also recognized as part of the HD motor phenotype, although little work detailing its prevalence, distribution, severity and impact on functional capacity has been published to date. Patients (>18 years of age) were recruited from the Cardiff (UK) HD clinic, each undergoing a standardized videotaped clinical examination and series of functional assessment questionnaires (Unified Huntington's Disease Rating Scale, Burke-Fahn-Marsden Dystonia Rating Scale and modified version of the Toronto Western Spasmodic Torticollis Rating Scale). The presence and severity of dystonia were scored by four independent neurologists using the Burke-Fahn-Marsden Dystonia Rating Scale and Unified Huntington's Disease Rating Scale. Statistical analysis included Fisher's exact test, Wilcoxon test, anova and calculation of correlation coefficients where appropriate. Forty-eight patients [91% (48/53)] demonstrated evidence of dystonia, with the highest prevalence in the left upper limb (n = 44, 83%), right upper limb most severely affected and eyes least affected. Statistically significant positive correlations (P disease stage and motor disease duration. Deterioration in functional capacity also correlated with increasing dystonia severity. No significant relationship was observed with age at motor symptom onset or CAG repeat length. We report a high prevalence of dystonia in adult patients with HD, with worsening dystonia severity with increasing HD disease stage and motor disease duration. The recognition and management of dystonic symptoms in routine clinical practice will aid overall symptomatic treatment and functional improvement. © 2017 EAN.

  9. The role of dopamine and serotonin in cervical dystonia

    NARCIS (Netherlands)

    Zoons, E.

    2018-01-01

    Cervical dystonia (CD) is a movement disorder accompanied by non-motor symptoms like depressive symptoms and anxiety. Neuroimaging has been used to investigate brain regions involved in the pathophysiology of focal dystonia, including CD. We describe the used neuroimaging techniques and why focal

  10. Twiddler's syndrome in a patient with a deep brain stimulation device for generalized dystonia.

    Science.gov (United States)

    Astradsson, Arnar; Schweder, Patrick M; Joint, Carole; Green, Alexander L; Aziz, Tipu Z

    2011-07-01

    Deep brain stimulation (DBS) is the technique of neurostimulation of deep brain structures for the treatment of conditions such as essential tremor, dystonia, Parkinson's disease and chronic pain syndromes. The procedure uses implanted deep brain stimulation electrodes connected to extension leads and an implantable pulse generator (IPG). Hardware failure related to the DBS procedure is not infrequent, and includes electrode migration and disconnection. We describe a patient who received bilateral globus pallidus internus DBS for dystonia with initially good clinical response, but the device eventually failed. Radiographs showed multiple twisting of the extension leads with disconnection from the brain electrodes and a diagnosis of Twiddler's syndrome was made. Twiddler's syndrome was first described in patients with cardiac pacemakers. Patients with mental disability, elderly and obese patients are at increased risk. Twiddler's syndrome should be suspected whenever there is a failure of the DBS device to relieve symptoms previously responsive to stimulation. Surgical correction is usually required. Copyright © 2011 Elsevier Ltd. All rights reserved.

  11. Sensory tricks and brain excitability in cervical dystonia: a transcranial magnetic stimulation study.

    Science.gov (United States)

    Amadio, Stefano; Houdayer, Elise; Bianchi, Francesca; Tesfaghebriel Tekle, Habtom; Urban, Ivan Pietro; Butera, Calogera; Guerriero, Roberta; Cursi, Marco; Leocani, Letizia; Comi, Giancarlo; Del Carro, Ubaldo

    2014-08-01

    Sensory tricks such as touching the face with fingertips often improve cervical dystonia [CD]. This study is to determine whether sensory tricks modulate motor cortex excitability, assessed by paired-pulse transcranial magnetic stimulation [p-pTMS]. Eight patients with rotational CD underwent p-pTMS, at rest and when the sensory trick was applied. To test intracortical inhibition [ICI] and facilitation [ICF], the amplitude ratio between conditioned and unconditioned cortical motor evoked potentials was measured at several interstimulus intervals (ISI 1, 3, 15, and 20 ms) and compared with controls mimicking patients' sensory tricks. At rest, a significant ICF enhancement was found at ISIs 15 through 20 in patients compared with controls, whereas no significant ICI changes were observed. Sensory tricks significantly reduced the abnormal ICF in patients and did not induce any change in controls. In our CD patients, sensory tricks seem to improve dystonia through an inhibitory effect on motor cortex excitability. © 2014 International Parkinson and Movement Disorder Society.

  12. Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia

    Directory of Open Access Journals (Sweden)

    Andrew E. Becker

    2016-05-01

    Full Text Available Background: Ataxia with vitamin E deficiency (AVED is an autosomal recessive disorder that usually presents with ataxia, areflexia, and proprioceptive and vibratory sensory loss. Dystonia has been reported rarely. Case Report: An 11‐year‐old female presented with dystonic head tremor and cervical and bilateral arm dystonia. Her 14‐year‐old older brother had dystonic head tremor and generalized dystonia. One year later, the brother developed dysarthria, limb dysmetria, and gait ataxia. Compound heterozygous mutations in TTPA were detected, confirming the diagnosis of AVED. Discussion: AVED may present with dystonia rather than ataxia, and should be considered in the differential diagnosis of progressive dystonia

  13. Laryngeal dystonia in the course of multiple system atrophy: a cause of postoperative respiratory insufficiency.

    Science.gov (United States)

    Wujtewicz, Magdalena A; Chwojnicki, Kamil; Owczuk, Radosław; Wujtewicz, Maria

    2012-06-01

    Multiple system atrophy (MSA) is an adult onset, incurable neurodegenerative disease, characterized by symptoms of nervous system failure. Occurrence of laryngeal dystonia indicates increased risk of sudden death caused by airway occlusion. We present the case report of 63-year-old patient with history of orthostatic hypotension, parkinsonism, progressive adynamia, and stridor. The patient was admitted to the hospital for diagnosis of orthostatic hypotension. A diagnosis of possible MSA was made. Because of patient's complaints, an X-ray of the hip joint was taken. It revealed femoral neck fracture. Endoprosthesis insertion under general anesthesia was performed. Two days later the patient presented progressive adynamy and respiratory insufficiency. Endotracheal intubation and respiratory support were required followed by extubation and one more intubation. After second extubation, stridor and acute respiratory insufficiency occurred. Urgent tracheostomy was performed. After 13 days in ICU, the patient was discharged to the rehabilitation center.

  14. Heterogeneity in primary dystonia: lessons from THAP1, GNAL, and TOR1A in Amish-Mennonites.

    Science.gov (United States)

    Saunders-Pullman, Rachel; Fuchs, Tania; San Luciano, Marta; Raymond, Deborah; Brashear, Alison; Ortega, Robert; Deik, Andres; Ozelius, Laurie J; Bressman, Susan B

    2014-05-01

    A founder mutation in the Thanatos-associated (THAP) domain containing, apoptosis associated protein 1 (THAP1) gene causing primary dystonia was originally described in the Amish-Mennonites. However, there may be both genotypic and phenotypic heterogeneity of dystonia in this population that may also inform studies in other ethnic groups. Genotyping for THAP1 and for guanine nucleotide binding protein (G protein), α-activating activity polypeptide, olfactory type (GNAL) mutations and genotype-phenotype comparisons were performed for 76 individuals of Amish-Mennonites heritage with primary dystonia. Twenty-seven individuals had mutations in THAP1-most with the founder indel mutation-but two had different THAP1 mutations, 8 had mutations in GNAL, and 1 had a de novo GAG deletion in torsin 1A (TOR1A) (dystonia 1 [DYT1]). In the primary analysis comparing THAP1 carriers versus all non-THAP1, non-GNAL, non-TOR1A individuals, age at onset was lower in THAP1 carriers (mean age ± standard deviation, 15.5 ± 9.2 years [range, 5-38 years] vs. 39.2 ± 17.7 years [range, 1-70 years]; P Amish-Mennonites is genetically diverse and includes not only the THAP1 indel founder mutation but also different mutations in THAP1 and GNAL as well as the TOR1A GAG deletion. Phenotype, particularly age at onset combined with final distribution, may be highly specific for the genetic etiology. © 2014 International Parkinson and Movement Disorder Society.

  15. Parkinson's Disease Videos

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  16. Temporal Discrimination: Mechanisms and Relevance to Adult-Onset Dystonia

    Directory of Open Access Journals (Sweden)

    Antonella Conte

    2017-11-01

    Full Text Available Temporal discrimination is the ability to determine that two sequential sensory stimuli are separated in time. For any individual, the temporal discrimination threshold (TDT is the minimum interval at which paired sequential stimuli are perceived as being asynchronous; this can be assessed, with high test–retest and inter-rater reliability, using a simple psychophysical test. Temporal discrimination is disordered in a number of basal ganglia diseases including adult-onset dystonia, of which the two most common phenotypes are cervical dystonia and blepharospasm. The causes of adult-onset focal dystonia are unknown; genetic, epigenetic, and environmental factors are relevant. Abnormal TDTs in adult-onset dystonia are associated with structural and neurophysiological changes considered to reflect defective inhibitory interneuronal processing within a network which includes the superior colliculus, basal ganglia, and primary somatosensory cortex. It is hypothesized that abnormal temporal discrimination is a mediational endophenotype and, when present in unaffected relatives of patients with adult-onset dystonia, indicates non-manifesting gene carriage. Using the mediational endophenotype concept, etiological factors in adult-onset dystonia may be examined including (i the role of environmental exposures in disease penetrance and expression; (ii sexual dimorphism in sex ratios at age of onset; (iii the pathogenesis of non-motor symptoms of adult-onset dystonia; and (iv subcortical mechanisms in disease pathogenesis.

  17. Young-Onset Parkinson's

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    ... What Is Parkinson's? › Young Onset Parkinson's Young-Onset Parkinson's 1. Symptoms 2. How Is Young-Onset PD ... of the foot Why Is Distinguishing Young-Onset Parkinson's Important? Socially, people who are affected by PD ...

  18. Parkinson's Disease Dementia

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    ... Find your local chapter Join our online community Parkinson's Disease Dementia Parkinson's disease dementia is an impairment ... disease. About Symptoms Diagnosis Causes & risks Treatments About Parkinson's disease dementia The brain changes caused by Parkinson's ...

  19. Parkinson's Disease Videos

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  20. Parkinson's Disease Videos

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    Full Text Available ... the Helpline: What Is the Helpline? How Does Speech Therapy Help Parkinson's Patients? CareMAP: El Vestirse Caregiver ... Parkinson's Mid-Stride: A Treatment Guide to Parkinson's Speech and Swallowing Psychosis: A Mind Guide to Parkinson's ...

  1. Life satisfaction of musicians with focal dystonia.

    Science.gov (United States)

    Lee, A; Eich, C; Ioannou, C I; Altenmüller, E

    2015-07-01

    Little is known about the effects of musicians' dystonia (MD) on patients' life satisfaction. To assess general life satisfaction in patients with MD with regard to their health and jobs, in relation to the duration and course of the condition. We asked patients with MD and a group of healthy musicians (controls) to complete a life satisfaction questionnaire. We analysed responses from those who had to change their profession and those who did not, and we assessed life satisfaction scores in relation to the duration and the course of the condition. Of the 642 patients contacted, 295 responded (46%). We excluded 52 amateur musicians and analysed a sample of 243 patients with MD. We contacted an unknown number of healthy musicians and 57 responded. We found no differences in life satisfaction between patients and controls or between patients who had to change their profession and those who did not and no correlations between life satisfaction and the duration or the course of the disease. Musicians find a way to cope with dystonia, irrespective of the course of the disease or a change of profession. Patients should be made aware of self-regulatory mechanisms and the probability of being able to cope and be supported in selecting their goals and achieving them. © The Author 2015. Published by Oxford University Press on behalf of the Society of Occupational Medicine. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  2. Efficiency of Vasotropic Therapy in Children with Hypertensive Neurocirculatory Dystonia

    Directory of Open Access Journals (Sweden)

    I.V. Shlimkevych

    2015-02-01

    Full Text Available This paper examines the clinical characteristics of the disease and cerebral blood flow features in patients with hypertensive neurocirculatory dystonia. It is shown that children have pronounced discirculatory changes in the arterial and venous system. They are characterized by dystonia against the background of altered vascular wall stiffness. The use of nootropic agent vinpocetine in comprehensive treatment of patients with hypertensive neurocirculatory dystonia is approved. It is proved that vinpocetine application induces the effective correction of clinical and functional changes and promotes the optimization of key parameters of cerebral blood flow in the majority of surveyed children.

  3. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome may have a hypothalamus-periaqueductal gray localization.

    Science.gov (United States)

    Chow, Cristelle; Fortier, Marielle Valerie; Das, Lena; Menon, Anuradha P; Vasanwala, Rashida; Lam, Joyce C M; Ng, Zhi Min; Ling, Simon Robert; Chan, Derrick W S; Choong, Chew Thye; Liew, Wendy K M; Thomas, Terrence

    2015-05-01

    Anatomical localization of the rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome has proved elusive. Most patients had neuroimaging after cardiorespiratory collapse, revealing a range of ischemic lesions. A 15-year-old obese boy with an acute febrile encephalopathy had hypoventilation, autonomic dysfunction, visual hallucinations, hyperekplexia, and disordered body temperature, and saltwater regulation. These features describe the ROHHAD syndrome. Cerebrospinal fluid analysis showed pleocytosis, elevated neopterins, and oligoclonal bands, and serology for systemic and antineuronal antibodies was negative. He improved after receiving intravenous steroids, immunoglobulins, and long-term mycophenolate. Screening for neural crest tumors was negative. Magnetic resonance imaging of the brain early in his illness showed focal inflammation in the periaqueductal gray matter and hypothalamus. This unique localization explains almost all symptoms of this rare autoimmune encephalitis. Copyright © 2015 Elsevier Inc. All rights reserved.

  4. Rapid onset of iatrogenic adrenal insufficiency in a patient with cystic fibrosis-related liver disease treated with inhaled corticosteroids and a moderate CYP3A4 inhibitor.

    Science.gov (United States)

    Hoover, Wynton C; Britton, LaCrecia J; Gardner, Jay; Jackson, Tracy; Gutierrez, Hector

    2011-07-01

    To report the rapid onset of adrenal insufficiency and subsequent development of Cushing syndrome precipitated by a CYP3A4-mediated drug-drug interaction that may have been enhanced by the presence of cystic fibrosis (CF)-related liver disease. A 9-year-old girl with CF and cirrhosis experienced a decline in lung function that led to a diagnosis of asthma. After initiation of asthma therapy with inhaled fluticasone 110 μg/actuation, the patient experienced improvement in lung function to baseline. Seven weeks after the initiation of inhaled fluticasone, she developed vaginal candidiasis and was prescribed fluconazole 100 mg/day, a CYP3A4 inhibitor. Three days after starting fluconazole, she developed polyuria and polydipsia and was found to have severe hyperglycemia, which led to the diagnosis of Cushing syndrome. Fluticasone was discontinued, and the patient's adrenal function normalized. Patients with CF are commonly prescribed complex medication regimens that may affect drug metabolism. CYP3A4 inhibitors may significantly decrease metabolic clearance in patients using chronic inhaled corticosteroids. Iatrogenic Cushing syndrome has been reported in patients with CF treated concomitantly, and for extended duration, with inhaled corticosteroids and CYP3A4 inhibitors. This case highlights rapid onset of adrenal insufficiency in a patient with CF-related liver disease treated briefly with a moderate CYP3A4 inhibitor. Use of the Horn drug interaction probability scale indicates that the interaction between fluticasone and fluconazole was probable. CYP3A4-mediated drug interactions represent a significant risk in patients treated with long-term inhaled corticosteroids. The presence of clinically significant CF-related liver disease may enhance this risk.

  5. Melatonin produces a rapid onset and prolonged efficacy in reducing depression-like behaviors in adult rats exposed to chronic unpredictable mild stress.

    Science.gov (United States)

    Sun, Xiaoran; Wang, Mengting; Wang, Yiqiang; Lian, Bo; Sun, Hongwei; Wang, Gang; Li, Qi; Sun, Lin

    2017-03-06

    The present study was aimed at evaluating the rapidity and duration of melatonin as an antidepressant in a rat model of depression. The rats were subjected to a six-week period of unpredictable mild stress followed by melatonin treatment. Three groups of rats were included in this study: Controls (CON - no stress exposure), Chronic Unpredictable Mild Stress (CUS) and CUS followed by melatonin (MT). Stressors consisted of exposure to rotation on a shaker, placement in a chamber maintained at 4°C, lights off for 3h, lights on overnight, exposure to an aversive odor, 45° tilted cages, food and water deprivation and crowding and isolated housing. Subsequently, the saline vehicle (CUS) or melatonin was administered at a dose of 10mg/kg for 14days period. Body weight and behavioral tests were used to evaluate depression-like behavior and its recovery following melatonin treatment. While body weight increases were significantly lower in rats exposed to CUS versus CON, body weights of the MT group increased significantly following melatonin treatment as compared with the CUS group. With regard to results obtained with behavioral assays indicative of depression, rapid and long-term functional recoveries in depression were observed in the MT as compared to the CUS group. The results indicate that not only does melatonin induce an antidepressant-like action within this rat model of depression, but does so with a rapid onset and prolonged efficacy. As most current treatments for depression require an extended period of administration, our current results suggest that melatonin may prove to be a particularly effect agent to promote a rapid onset and prolonged behavioral benefits in the treatment of depression. Copyright © 2017 Elsevier B.V. All rights reserved.

  6. Parkinson's Disease

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    Parkinson's disease (PD) is a type of movement disorder. It happens when nerve cells in the brain don't ... coordination As symptoms get worse, people with the disease may have trouble walking, talking, or doing simple ...

  7. Parkinson's Disease

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    ... a loss of neurons that produce a chemical messenger in your brain called dopamine. When dopamine levels ... Diagnosis & treatment July 07, 2015 Print Share on: Facebook Twitter References Longo DL, et al. Parkinson's disease ...

  8. Adult-onset Idiopathic Focal Lower Extremity Dystonia: A Rare Task-Specific Dystonia

    Directory of Open Access Journals (Sweden)

    Ritesh Ramdhani

    2013-03-01

    Full Text Available Background:Adult-onset focal lower extremity (LE dystonia is rare, but there have recently been a number of case series that have reported an idiopathic variant triggered during ambulation.Methods:We describe nine patients with idiopathic, focal task-specific LE dystonia. We conducted a comparative analysis that included our cohort and several recently published case series to further characterize the disorder.Results:A total of 48 patients (37 female, 11 male were compared. The average age of onset was 48 years; 36 patients had distal extremity involvement (75%, 5 proximal (10%, and 7 both proximal and distal (15%. Among 33 patients in which the dystonic side was known, 20 were affected on the left (61%. Inversion of the foot with flexion of one or more toes was the most prevalent pattern in those with distal extremity involvement. Discussion:This is a novel task-specific dystonia triggered during ambulation that is often misdiagnosed as an orthopedic or psychogenic issue.

  9. Dystonia during feeding as an early sign of dopa-responsive dystonia.

    Science.gov (United States)

    Chieng, Kwong S; Hussain, Nahin; Gosalakkal, Jayaprakash A

    2007-09-01

    A 21/2-month-old girl presented with feeding difficulties of 8 weeks' duration. She cried, vomited, arched, and became rigid during every feeding. She was suspected of having gastroesophageal reflux disease. Dystonia and developmental delay became apparent at age 8 months. Nasogastric tube feeding and gastrostomy with Nissen's fundoplication were performed at age 7 and 12 months, respectively. She was treated with baclofen, trihexyphenidyl, and antireflux therapy, without benefit. She became severely developmentally delayed with marked head lag, dystonia, and rigidity. Levodopa therapy was initiated at age 21 months. She manifested dramatic improvement over the next year. Dystonia, rigidity, and retching disappeared soon after treatment. She experienced good catch-up in development. She exhibited poor head control and an inability to reach out at age 21 months, but bottom shuffling was observed at age 26 months, and walking and speaking three-word sentences at age 2 years and 10 months. Pertinent issues relating to signs, pathophysiology, genetics, and biochemical defects are discussed briefly.

  10. Genetics Home Reference: task-specific focal dystonia

    Science.gov (United States)

    ... Conditions Genes Chromosomes & mtDNA Resources Help Me Understand ... such as writing, playing a musical instrument, or participating in a sport. Dystonias are a group of movement problems characterized ...

  11. Focal dystonia in musicians: From phenomenology to therapy

    Directory of Open Access Journals (Sweden)

    Hans-Christian Jabusch

    2006-01-01

    Full Text Available Background: Musician's dystonia is a task-specific movement disorder which manifests itself as a loss of voluntary motor control in extensively trained movements. In many cases, the disorder terminates the careers of affected musicians. Approximately 1% of all professional musicians are affected.Etiology and Pathophysiology: The pathophysiology of the disorder is still unclear. Findings include (a reduced inhibition in different levels of the central nervous system, (b maladaptive plasticity, e.g. in the somatosensory cortex and in the basal ganglia, and (c alterations in sensorimotor processing. Epidemiological data demon-strated a higher risk for those musicians who play instruments requiring maximal fine-motorskills. For instruments where workload differs across hands, focal dystonia appears more often in the more intensely used hand. In psychological studies, musicians with dystonia had more perfectionist tendencies than healthy musicians. These findings streng then the assumption that behavioral factors may be involved in the etiology of musician's dystonia. Hereditary factors may play a greater role than previously assumed. Preliminary findings suggest a genetic contributiont o focal task-specific dystonia with phenotypic variations including musician's dystonia.Treatment: Treatment options for musician's dystonia include pharmacological interventions such as administration of Trihexyphenidyl or Botulinum Toxin-A as well as retraining programs and ergonomic changes in the instrument. A long-term follow-up study was performed in 144 patients with musician's dystonia. The outcome was revealed on average 8.4 years after onset of symptoms. Outcome was assessed by patients' subjective rating of cumulative treatmentresponse and response to individual therapies. Seventy-seven patients (54% reported an alleviation of symptoms: 33% of the patients with Trihexyphenidyl, 49% with Botulinum Toxin, 50% with pedagogical retraining, 56% with unmonitored

  12. Clinical and genetic evaluation of a family with a mixed dystonia phenotype from South Tyrol.

    Science.gov (United States)

    Klein, C; Pramstaller, P P; Castellan, C C; Breakefield, X O; Kramer, P L; Ozelius, L J

    1998-09-01

    The gene causing early-onset torsion dystonia (DYT1) has recently been identified, and two new dystonia genes, one for adult-onset focal dystonia (DYT7) and one for a mixed dystonia phenotype (DYT6), have been mapped. We evaluated clinically a family from South Tyrol (Northern Italy) with 6 definitely affected individuals who display an unusually large phenotypic range of dystonic symptoms. We excluded the GAG deletion in the DYT1 gene and linkage to any of the above-mentioned dystonia loci, thus suggesting an as yet undefined dystonia gene in our family.

  13. The Most Cited Works in Essential Tremor and Dystonia

    Directory of Open Access Journals (Sweden)

    Nicolas K. King

    2016-04-01

    Full Text Available Background: The study of the most cited works in a particular field gives an indication of the important advances, developments, and discoveries that have had the highest impact in that discipline. Our aim was to identify the most cited works in essential tremor (ET and dystonia. Methods: A bibliometric search was performed using the ISI Web of Science database using selected search terms for ET and dystonia for articles published from 1900 to 2015. The resulting citation counts were analyzed to identify the most cited works, and the studies were categorized. Results: Using the criterion of more than 400 citations, there were four citation classics for ET and six for dystonia. The most cited studies were those on pathophysiology followed by medical treatments, clinical classification, genetic studies, surgical treatments, review articles, and epidemiology studies. A comparison of the most cited articles for ET and dystonia showed that there was a divergence, with ET and dystonia having a higher number of epidemiologic and genetic studies, respectively. Whereas the peak period for the number of publications was 2000–2004 for ET, it was 1995–1999 for dystonia. Discussion: Given the large number of patients with these disorders, there appears to be an unmet need for further research advances in both areas, but particularly for ET as the most common movement disorder.

  14. Mental rotation and working memory in musicians' dystonia.

    Science.gov (United States)

    Erro, Roberto; Hirschbichler, Stephanie T; Ricciardi, Lucia; Ryterska, Agata; Antelmi, Elena; Ganos, Christos; Cordivari, Carla; Tinazzi, Michele; Edwards, Mark J; Bhatia, Kailash P

    2016-11-01

    Mental rotation of body parts engages cortical-subcortical areas that are actually involved in the execution of a movement. Musicians' dystonia is a type of focal hand dystonia that is grouped together with writer's cramp under the rubric of "occupational dystonia", but it is unclear to which extent these two disorders share common pathophysiological mechanisms. Previous research has demonstrated patients with writer's cramp to have deficits in mental rotation of body parts. It is unknown whether patients with musicians' dystonia would display similar deficits, reinforcing the concept of shared pathophysiology. Eight patients with musicians' dystonia and eight healthy musicians matched for age, gender and musical education, performed a number of tasks assessing mental rotation of body parts and objects as well as verbal and spatial working memories abilities. There were no differences between patients and healthy musicians as to accuracy and reaction times in any of the tasks. Patients with musicians' dystonia have intact abilities in mentally rotating body parts, suggesting that this disorder relies on a highly selective disruption of movement planning and execution that manifests only upon playing a specific instrument. We further demonstrated that mental rotation of body parts and objects engages, at least partially, different cognitive networks. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. High-throughput mutational analysis of TOR1A in primary dystonia.

    Science.gov (United States)

    Xiao, Jianfeng; Bastian, Robert W; Perlmutter, Joel S; Racette, Brad A; Tabbal, Samer D; Karimi, Morvarid; Paniello, Randal C; Blitzer, Andrew; Batish, Sat Dev; Wszolek, Zbigniew K; Uitti, Ryan J; Hedera, Peter; Simon, David K; Tarsy, Daniel; Truong, Daniel D; Frei, Karen P; Pfeiffer, Ronald F; Gong, Suzhen; Zhao, Yu; LeDoux, Mark S

    2009-03-11

    Although the c.904_906delGAG mutation in Exon 5 of TOR1A typically manifests as early-onset generalized dystonia, DYT1 dystonia is genetically and clinically heterogeneous. Recently, another Exon 5 mutation (c.863G>A) has been associated with early-onset generalized dystonia and some DeltaGAG mutation carriers present with late-onset focal dystonia. The aim of this study was to identify TOR1A Exon 5 mutations in a large cohort of subjects with mainly non-generalized primary dystonia. High resolution melting (HRM) was used to examine the entire TOR1A Exon 5 coding sequence in 1014 subjects with primary dystonia (422 spasmodic dysphonia, 285 cervical dystonia, 67 blepharospasm, 41 writer's cramp, 16 oromandibular dystonia, 38 other primary focal dystonia, 112 segmental dystonia, 16 multifocal dystonia, and 17 generalized dystonia) and 250 controls (150 neurologically normal and 100 with other movement disorders). Diagnostic sensitivity and specificity were evaluated in an additional 8 subjects with known DeltaGAG DYT1 dystonia and 88 subjects with DeltaGAG-negative dystonia. HRM of TOR1A Exon 5 showed high (100%) diagnostic sensitivity and specificity. HRM was rapid and economical. HRM reliably differentiated the TOR1A DeltaGAG and c.863G>A mutations. Melting curves were normal in 250/250 controls and 1012/1014 subjects with primary dystonia. The two subjects with shifted melting curves were found to harbor the classic DeltaGAG deletion: 1) a non-Jewish Caucasian female with childhood-onset multifocal dystonia and 2) an Ashkenazi Jewish female with adolescent-onset spasmodic dysphonia. First, HRM is an inexpensive, diagnostically sensitive and specific, high-throughput method for mutation discovery. Second, Exon 5 mutations in TOR1A are rarely associated with non-generalized primary dystonia.

  16. High-throughput mutational analysis of TOR1A in primary dystonia

    Directory of Open Access Journals (Sweden)

    Truong Daniel D

    2009-03-01

    Full Text Available Abstract Background Although the c.904_906delGAG mutation in Exon 5 of TOR1A typically manifests as early-onset generalized dystonia, DYT1 dystonia is genetically and clinically heterogeneous. Recently, another Exon 5 mutation (c.863G>A has been associated with early-onset generalized dystonia and some ΔGAG mutation carriers present with late-onset focal dystonia. The aim of this study was to identify TOR1A Exon 5 mutations in a large cohort of subjects with mainly non-generalized primary dystonia. Methods High resolution melting (HRM was used to examine the entire TOR1A Exon 5 coding sequence in 1014 subjects with primary dystonia (422 spasmodic dysphonia, 285 cervical dystonia, 67 blepharospasm, 41 writer's cramp, 16 oromandibular dystonia, 38 other primary focal dystonia, 112 segmental dystonia, 16 multifocal dystonia, and 17 generalized dystonia and 250 controls (150 neurologically normal and 100 with other movement disorders. Diagnostic sensitivity and specificity were evaluated in an additional 8 subjects with known ΔGAG DYT1 dystonia and 88 subjects with ΔGAG-negative dystonia. Results HRM of TOR1A Exon 5 showed high (100% diagnostic sensitivity and specificity. HRM was rapid and economical. HRM reliably differentiated the TOR1A ΔGAG and c.863G>A mutations. Melting curves were normal in 250/250 controls and 1012/1014 subjects with primary dystonia. The two subjects with shifted melting curves were found to harbor the classic ΔGAG deletion: 1 a non-Jewish Caucasian female with childhood-onset multifocal dystonia and 2 an Ashkenazi Jewish female with adolescent-onset spasmodic dysphonia. Conclusion First, HRM is an inexpensive, diagnostically sensitive and specific, high-throughput method for mutation discovery. Second, Exon 5 mutations in TOR1A are rarely associated with non-generalized primary dystonia.

  17. Hitler's parkinsonism.

    Science.gov (United States)

    Boettcher, Lillian B; Bonney, Phillip A; Smitherman, Adam D; Sughrue, Michael E

    2015-07-01

    Of the multitude of medical and psychiatric conditions ascribed to Hitler both in his lifetime and since his suicide in April 1945, few are more substantiated than parkinsonism. While the timeline of the development of this condition, as well as its etiology, are debated, there is clear evidence for classic manifestations of the disease, most prominently a resting tremor but also stooped posture, bradykinesia, micrographia, and masked facial expressions, with progression steadily seen over his final years. Though ultimately speculation, some have suggested that Hitler suffered from progressive cognitive and mood disturbances, possibly due to parkinsonism, that affected the course of events in the war. Here, the authors discuss Hitler's parkinsonism in the context of the Third Reich and its eventual destruction, maintaining that ultimately his disease had little effect on the end result.

  18. [Neurosurgical treatment of Parkinson disease and other movement disorders].

    Science.gov (United States)

    Krauss, J K

    1997-10-04

    The surgical treatment of movement disorders has attracted widespread attention in the past few years. Better understanding of pathophysiological mechanisms, and also the refinement of neurosurgical, neuroradiological and neurophysiological methods and techniques have contributed to the redefinition of surgical treatment. With appropriate selection criteria, symptomatic and functional benefit can be achieved in the majority of patients. Functional neurosurgical procedures nowadays are performed most frequently in patients with Parkinson's disease or cervical dystonia. Functional neurosurgery today has the choice of a variety of different surgical options. The most appropriate operative technique is chosen with regard of the clinical presentation of the individual patient. The different operative procedures and the postoperative results are briefly described.

  19. Parkinson's disease

    DEFF Research Database (Denmark)

    Astradsson, Arnar; Aziz, Tipu Z

    2015-01-01

    INTRODUCTION: The mean age of onset of Parkinson's disease is about 65 years, with a median time of 9 years between diagnosis and death. METHODS AND OUTCOMES: We conducted a systematic review and aimed to answer the following clinical question: What are the effects of fetal cell or stem cell......-derived therapy in people with Parkinson's disease? We searched: Medline, Embase, The Cochrane Library and other important databases up to September 2014 (Clinical Evidence reviews are updated periodically; please check our website for the most up-to-date version of this review). We included harms alerts from...

  20. Familial Paroxysmal Exercise-Induced Dystonia: Atypical Presentation of Autosomal Dominant GTP-Cyclohydrolase 1 Deficiency

    Science.gov (United States)

    Dale, Russell C.; Melchers, Anna; Fung, Victor S. C.; Grattan-Smith, Padraic; Houlden, Henry; Earl, John

    2010-01-01

    Paroxysmal exercise-induced dystonia (PED) is one of the rarer forms of paroxysmal dyskinesia, and can occur in sporadic or familial forms. We report a family (male index case, mother and maternal grandfather) with autosomal dominant inheritance of paroxysmal exercise-induced dystonia. The dystonia began in childhood and was only ever induced…

  1. Muscle selection for treatment of cervical dystonia with botulinum toxin : A systematic review

    NARCIS (Netherlands)

    Nijmeijer, S. W. R.; Koelman, J. H. T. M.; Kamphuis, D. J.; Tijssen, M. A. J.

    Rationale: Cervical dystonia, also called spasmodic torticollis, is the most common form of (primary) dystonia. Intramuscular injections with botulinum toxin are the first line of treatment for cervical dystonia. To optimise the treatment response to botulinum toxin correct muscles should be

  2. Muscle selection for treatment of cervical dystonia with botulinum toxin - A systematic review

    NARCIS (Netherlands)

    Nijmeijer, S. W. R.; Koelman, J. H. T. M.; Kamphuis, D. J.; Tijssen, M. A. J.

    2012-01-01

    Rationale: Cervical dystonia, also called spasmodic torticollis, is the most common form of (primary) dystonia. Intramuscular injections with botulinum toxin are the first line of treatment for cervical dystonia. To optimise the treatment response to botulinum toxin correct muscles should be

  3. Managing Parkinson's

    Science.gov (United States)

    ... part of a network of support. 0 Diet & Nutrition Emotional Well-Being Advice for the Newly Diagnosed Activities of Daily Living ... of Item (also a link) Managing Parkinson's Diet & Nutrition Emotional Well-Being Advice for the Newly Diagnosed Activities of Daily Living ...

  4. The challenge of diagnosing focal hand dystonia in musicians

    Science.gov (United States)

    Rosset-Llobet, J.; Candia, V.; Molas, S. Fàbregas i; Dolors Rosinés i Cubells, D.; Pascual-Leone, A.

    2012-01-01

    Background and purpose To most clinicians, medical problems in musicians, particularly those concerning focal hand dystonia, constitute an unfamiliar domain difficult to manage. The latter can importantly influence diagnostics and the course of treatment. The purpose of this study was to enlighten the issue and to identify possible problems in diagnosing musicians’ cramp within the Spanish medical community. Methods We used a brief questions’ catalog and clinical histories of 665 musicians seen at our clinic for performing artists. We analyzed patients’ diagnosis records in 87 cases of focal hand dystonia (13.1%). In so doing, we surveyed previous diagnoses and diverse treatments prescriptions prior to referral to our clinic. Results Referrals came primarily from orthopaedists and neurologists. The 52.9% arrived at our clinic without a diagnosis or a suspicion of suffering from focal dystonia. The most frequently attempted diagnoses other than musicians’ dystonia included nerve compression, tendonitis and trigger fingers. Commonly prescribed treatments included rest, various surgical procedures, physiotherapy and oral anti-inflammatory medication. Conclusions This data depicts the diagnostic challenges of medical professionals may encounter when confronted with musician’s focal dystonia. PMID:19473363

  5. Rescue of Na+ and H+ binding in Na+,K+-ATPase M8 aspartate mutants by secondary mutation

    DEFF Research Database (Denmark)

    Holm, Rikke; Einholm, Anja P.; Andersen, Jens Peter

    A mutation replacing the aspartate in transmembrane segment M8 in the a3-isoform of Na,K-ATPase with asparagine has been found in patients with rapid-onset dystonia parkinsonism or alternating hemiplegia of childhood. This aspartate may be a critical Na+ coordinating residue, but the crystal...

  6. Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease

    DEFF Research Database (Denmark)

    Toustrup-Jensen, Mads Schak; Einholm, Anja P.; Schack, Vivien

    The neurological disorders familial hemiplegic migraine type 2 (FHM2), alternating hemiplegia of childhood (AHC), and rapid-onset dystonia parkinsonism (RDP) are caused by mutations of Na+,K+-ATPase α2 and α3 isoforms, expressed in glial and neuronal cells, respectively. Although these disorders ...

  7. Distinct neurological disorders with ATP1A3 mutations

    NARCIS (Netherlands)

    Heinzen, E.L.; Arzimanoglou, A.; Brashear, A.; Clapcote, S.J.; Gurrieri, F.; Goldstein, D.B; Johannesson, S.H.; Mikati, M.A.; Neville, B.; Nicole, S.; Ozelius, L.J.; Poulsen, H.; Schyns, T.; Sweadner, K.J.; Maagdenberg, A. van den; Vilsen, B.; Koenderink, J.B.

    2014-01-01

    Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the alpha3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link two clinically distinct neurological

  8. Na+,K+ pumpen vedbliver at overraske

    DEFF Research Database (Denmark)

    Vilsen, Bente

    2008-01-01

    and the regulation of Na+ transport by a strategically located C-terminus of the protein. Focus is also on the pathophysiology of two neurological disorders, familial hemiplegic migraine and rapid-onset dystonia-parkinsonism, recently shown to be caused by mutations in the Na+,K+-ATPase. Udgivelsesdato: may 19...

  9. α3Na+/K+-ATPase deficiency causes brain ventricle dilation and abrupt embryonic motility in zebrafish

    DEFF Research Database (Denmark)

    Doganli, Canan; Beck, Hans Christian; Ribera, Angeles B

    2013-01-01

    Na+/K+-ATPases are transmembrane ion pumps that maintain ion gradients across the basolateral plasma membrane in all animal cells to facilitate essential biological functions. Mutations in the Na+/K+-ATPase α3 subunit gene (ATP1A3) cause rapid-onset dystonia-parkinsonism, a rare movement disorder...

  10. Parkinson's Disease: Exercise

    Science.gov (United States)

    ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  11. What Is Parkinson's Disease?

    Science.gov (United States)

    ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  12. Parkinson's Disease Videos

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    Full Text Available ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  13. Parkinson's Disease Foundation News

    Science.gov (United States)

    ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  14. Mobility (Parkinson's Disease)

    Science.gov (United States)

    ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  15. Diagnosis (Parkinson's Disease)

    Science.gov (United States)

    ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  16. Parkinson's Disease Videos

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    Full Text Available ... options are available. Learn More Living with Parkinson's Managing Parkinson's In Your Area Resources & Support PD Library ... otra canción” Expert Briefings: Diagnosis PD, Now What? Managing the First Few Years with Parkinson's Expert Briefings: ...

  17. Parkinson's Disease Videos

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    Full Text Available ... is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and what treatment options are available. Learn More Living with Parkinson's Managing Parkinson's In Your ...

  18. Parkinson's Disease Videos

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    Full Text Available ... Late Stage Parkinson's Expert Briefings: Impulsive and Compulsive Behaviors in Parkinson's Expert Briefings: Complementary Approaches to Parkinson's ... y Respuestas con todos los presentadores Is Compulsive Behavior a Side Effect of PD Medications? What Types ...

  19. Parkinson's Disease Videos

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    ... HELPLINE 1-800-4PD-INFO (473-4636) helpline@parkinson.org Search Our Site General Gift Tribute Gift Moving Day Support a Fundraiser Understanding Parkinson's What Is Parkinson's? Causes & Statistics Early Signs Symptoms ...

  20. Parkinson's Disease Videos

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    Full Text Available ... HELPLINE 1-800-4PD-INFO (473-4636) helpline@parkinson.org Search Our Site General Gift Tribute Gift Moving Day Support a Fundraiser Understanding Parkinson's What Is Parkinson's? Causes & Statistics Early Signs Symptoms ...

  1. Parkinson's Disease Videos

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    Full Text Available ... Is Parkinson's? Causes & Statistics Early Signs Symptoms Diagnosis Treatment Understanding Parkinson's There is a lot to know ... about symptoms, how it is diagnosed and what treatment options are available. Learn More Living with Parkinson's ...

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    Full Text Available ... Managing Parkinson's In Your Area Resources & Support Legal, Financial, & Insurance Matters For Caregivers Living with Parkinson's While ... Managing Depression, Anxiety & Psychosis OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis OHSU - Therapeutic Approaches for ...

  3. Parkinson's Disease Videos

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    Full Text Available ... Managing Advanced Parkinson's Website Expert Briefings: Apathy or Depression: Which One Is It? CareMAP: El Descanso y ... Expert Briefings: A Closer Look at Anxiety and Depression in Parkinson's Disease Expert Briefings: Driving and Parkinson's: ...

  4. Parkinson's Disease Videos

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    Full Text Available ... care that bring hope to the entire Parkinson's community. Learn more Get Involved Moving Day Walk Parkinson's ... Miami, FL 33131 NY: 1359 Broadway, Suite 1509, New York, NY 10018 contact@parkinson.org Press Room ...

  5. Parkinson's Disease Videos

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    Full Text Available ... Understanding Parkinson's What Is Parkinson's? Causes & Statistics Early Signs Symptoms Diagnosis Treatment Understanding Parkinson's There is a ... on treatments, research and other updates. Email Address Sign Up Questions? Call our Helpline: 1-800-4PD- ...

  6. Parkinson's Disease Videos

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    Full Text Available ... Expert Briefings: Anxiety in Parkinson's Disease Expert Briefings: Cognitive Issues: Advice for Parkinson's Care Partners Expert Briefings: Nutrition and Parkinson's Disease NY Nightly News with Chuck ...

  7. Social cognition and idiopathic isolated cervical dystonia.

    Science.gov (United States)

    Czekóová, Kristína; Zemánková, Petra; Shaw, Daniel J; Bareš, Martin

    2017-04-25

    For a long time, cervical dystonia (CD) has been characterised only by disturbances in motor functioning. Despite accumulating evidence for symptomatology in various non-motor domains, to date no study has investigated social cognition in CD. The aim of this study was to compare performance of CD patients and healthy controls in neurocognitive and socio-cognitive domain. Twenty-five non-depressed patients with CD and 26 healthy controls underwent neuropsychological testing. This involved assessment of cognitive status (general intellect, verbal memory, and executive function), and socio-cognitive functions using a Theory of mind task and self-report on empathy and emotion regulation. In comparison to controls, CD patients displayed significantly decreased cognitive abilities, particularly in executive function and verbal memory tasks. Difficulties in inferring mental states on both cognitive and affective levels were also observed. The largest discrepancies were detected in understanding intentionality in others. Poorer performance in cognitive and socio-cognitive tasks was unrelated to severity of the disease. This is the first evidence of compromised socio-cognitive functions in CD patients, highlighting this domain as another facet of non-motor symptoms of this disease. Future studies should advance our understanding of the extent, nature, and time course of these deficits in other aspects of social cognition in this patient population.

  8. Reorganization of the Human Somatosensory Cortex in Hand Dystonia

    Directory of Open Access Journals (Sweden)

    Maria Jose Catalan

    2012-05-01

    Full Text Available Background and Purpose: Abnormalities of finger representations in the somatosensory cortex have been identified in patients with focal hand dystonia. Measuring blood flow with positron emission tomography (PET can be use to demonstrate functional localization of receptive fields. Methods: A vibratory stimulus was applied to the right thumb and little finger of six healthy volunteers and six patients with focal hand dystonia to map their receptive fields using H215O PET. Results: The cortical finger representations in the primary somatosensory cortex were closer to each other in patients than in normal subjects. No abnormalities were found in secondary somatosensory cortex, but the somatotopy there is less well distinguished. Conclusions: These data confirm prior electrophysiological and functional neuroimaging observations showing abnormalities of finger representations in somatosensory cortex of patients with focal hand dystonia.

  9. Shock Waves in the Treatment of Muscle Hypertonia and Dystonia

    Directory of Open Access Journals (Sweden)

    Laura Mori

    2014-01-01

    Full Text Available Since 1997, focused shock waves therapy (FSWT has been reported to be useful in the treatment of muscle hypertonia and dystonia. More recently, also radial shock wave therapy (RSWT has been successfully used to treat muscle hypertonia. The studies where FSWT and RSWT have been used to treat muscle hypertonia and dystonia are reviewed in this paper. The more consistent and long lasting results were obtained in the lower limb muscles of patients affected by cerebral palsy with both FSWT and RSWT and in the distal upper limb muscles of adult stroke patients using FSWT. The most probable mechanism of action is a direct effect of shock waves on muscle fibrosis and other nonreflex components of muscle hypertonia. However, we believe that up to now the biological effects of shock waves on muscle hypertonia and dystonia cannot be clearly separated from a placebo effect.

  10. Bilateral dystonia in type 1 diabetes: a case report

    Directory of Open Access Journals (Sweden)

    Yasuhara Akihiro

    2008-11-01

    Full Text Available Abstract Introduction Diabetic hemichorea-hemiballismus is a rare complication of type 2 diabetes. Here, we report a case with type 1 diabetes, with hemichorea and bilateral dystonia manifested as hyperglycemia-induced involuntary movement. Case presentation A 62-year-old Japanese women with body weight loss of 30 kg during the past year developed symptoms of thirst, polydipsia and polyuria. She also presented with hemichorea and bilateral dystonia for 5 days and extremely high plasma glucose (774 mg/dl, hemoglobin A1c (21.2% and glycated albumin (100% with ketosis. Based on the presence of glutamic acid decarboxylase antibodies (18,000 U/ml; normal Conclusion Hyperglycemia-induced involuntary movement is one of the manifestations of dystonia and hemichorea-hemiballism.

  11. Efficacy of rapid-onset oral fentanyl formulations vs. oral morphine for cancer-related breakthrough pain: a meta-analysis of comparative trials.

    Science.gov (United States)

    Jandhyala, Ravi; Fullarton, John R; Bennett, Michael I

    2013-10-01

    Breakthrough cancer pain (BTcP) is widely recognized as a clinically significant complication of chronic cancer pain. With most BTcP episodes peaking in intensity within a few minutes and lasting for approximately 30 minutes, speed of onset is crucial for effective pain management. Although the last decade has seen the development of a number of rapid-onset fentanyl preparations, BTcP is still typically managed by supplemental or rescue doses of the patient's around-the-clock medication, such as oral morphine. Importantly, although the fentanyl preparations, such as fentanyl buccal tablet (FBT), sublingual fentanyl citrate orally disintegrating tablet (ODT), and oral transmucosal fentanyl citrate lozenge (OTFC), have all been proven to be efficacious in clinical studies, oral morphine has never been specifically tested in BTcP, other than as a comparator in studies of OTFC and fentanyl pectin nasal spray. To determine the relative contributions to pain relief from oral morphine and the fentanyl preparations using placebo as a common comparator. Relevant studies were identified by review of the literature and used in a mixed-treatment meta-analysis to indirectly compare fentanyl preparations, morphine, and placebo for the treatment of BTcP. Analysis incorporating the five relevant studies identified revealed that although the fentanyl preparations provide superior pain relief vs. placebo in the first 30 minutes after dosing (FBT provided an 83% probability of superior pain relief, ODT 66%, and OTFC 73% vs. placebo), oral morphine performed little better than placebo (56% probability). This mixed-treatment analysis suggests that FBT, ODT, and OTFC might provide more efficacious treatment options than oral morphine for BTcP. Copyright © 2013 U.S. Cancer Pain Relief Committee. Published by Elsevier Inc. All rights reserved.

  12. Rapid onset of perfused blood vessels after implantation of ECFCs and MPCs in collagen, PuraMatrix and fibrin provisional matrices.

    Science.gov (United States)

    Allen, Patrick; Kang, Kyu-Tae; Bischoff, Joyce

    2015-05-01

    We developed an in vivo vascularization model in which human endothelial colony-forming cells (ECFCs) and human mesenchymal progenitor cells (MPCs) form blood vessel networks when co-injected (ECFC + MPC) into nude mice in rat tail type I collagen, bovine fibrin or synthetic peptide PuraMatrix matrices. We used three approaches to determine the onset of functional vascularization when ECFC + MPC suspended in these matrices were implanted in vivo. The first was immunohistochemistry to detect vessels lined by human endothelial cells and filled with red blood cells. The second was in vivo vascular staining by tail vein injection of a mixture of Ulex europaeus agglutinin I (UEA-I), a lectin specific for human endothelium, and Griffonia simplicifolia isolectin B4 (GS-IB4 ), a lectin specific for rodent endothelium. The third approach employed contrast-enhanced ultrasound to measure the perfusion volumes of implants in individual animals over time. Human endothelial-lined tubular structures were detected in vivo on days 1 and 2 after implantation, with perfused human vessels detected on days 3 and 4. Contrast-enhanced ultrasound revealed significant perfusion of ECFC + MPC/collagen implants on days 1-4, at up to 14% perfused vascular volume. ECFC + MPC implanted in fibrin and PuraMatrix matrices also supported perfusion at day 1, as assessed by ultrasound (at 12% and 23% perfused vascular volume, respectively). This model demonstrates that ECFC + MPC suspended in any of the three matrices initiated a rapid onset of vascularization. We propose that ECFC + MPC delivered in vivo provide a means to achieve rapid perfusion of tissue-engineered organs or for in situ tissue repair. Copyright © 2013 John Wiley & Sons, Ltd.

  13. Regaining motor control in musician's dystonia by restoring sensorimotor organization.

    Science.gov (United States)

    Rosenkranz, Karin; Butler, Katherine; Williamon, Aaron; Rothwell, John C

    2009-11-18

    Professional musicians are an excellent model of long-term motor learning effects on structure and function of the sensorimotor system. However, intensive motor skill training has been associated with task-specific deficiency in hand motor control, which has a higher prevalence among musicians (musician's dystonia) than in the general population. Using a transcranial magnetic stimulation paradigm, we previously found an expanded spatial integration of proprioceptive input into the hand motor cortex [sensorimotor organization (SMO)] in healthy musicians. In musician's dystonia, however, this expansion was even larger. Whereas motor skills of musicians are likely to be supported by a spatially expanded SMO, we hypothesized that in musician's dystonia this might have developed too far and now disrupts rather than assists task-specific motor control. If so, motor control should be regained by reversing the excessive reorganization in musician's dystonia. Here, we test this hypothesis and show that a 15 min intervention with proprioceptive input (proprioceptive training) restored SMO in pianists with musician's dystonia to the pattern seen in healthy pianists. Crucially, task-specific motor control improved significantly and objectively as measured with a MIDI (musical instrument digital interface) piano, and the amount of behavioral improvement was significantly correlated to the degree of sensorimotor reorganization. In healthy pianists and nonmusicians, the SMO and motor performance remained essentially unchanged. These findings suggest that the differentiation of SMO in the hand motor cortex and the degree of motor control of intensively practiced tasks are significantly linked and finely balanced. Proprioceptive training restored this balance in musician's dystonia to the behaviorally beneficial level of healthy musicians.

  14. The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome

    DEFF Research Database (Denmark)

    Ha, Ainhi D; Parratt, Kaitlyn L; Rendtorff, Nanna D

    2012-01-01

    , including 2 with novel mutations, together with a systematic review of the literature, in order to define the phenotypic expression of dystonia. Profound hearing impairment in affected males develops by infancy and precedes the development of dystonia, which varies in time of onset from the first......, pyramidal signs, and in 1 patient, gait freezing and postural instability. Optic atrophy and cortical visual impairment were both observed. We report for the first time a female patient who developed multiple disabling neurological complications of MTS. Our findings more clearly define and expand...

  15. Development of acute dystonia in three brothers due to metoclopramide

    Directory of Open Access Journals (Sweden)

    Ibrahim Silfeler

    2012-01-01

    Full Text Available One of the agents that cause dystonic reactions is metoclopramide. In this study, we presented three individuals of the same family who were admitted to our hospital while receiving the treatment of metoclopramide because of developing acute dystonic reaction. Appropriate doses of metoclopramide therapy had begun to all brothers with a diagnosis of gastroenteritis. After receiving the first dose of medication, acute dystonia was observed within half an hour in these brothers who used metoclopramide. Thus, if there is a patient who developed acute dystonia in the same family due to metoclopramide, avoiding from use of metoclopramide will be beneficial for other members of the family.

  16. Temporal discrimination thresholds in adult-onset primary torsion dystonia: an analysis by task type and by dystonia phenotype.

    LENUS (Irish Health Repository)

    Bradley, D

    2012-01-01

    Adult-onset primary torsion dystonia (AOPTD) is an autosomal dominant disorder with markedly reduced penetrance. Sensory abnormalities are present in AOPTD and also in unaffected relatives, possibly indicating non-manifesting gene carriage (acting as an endophenotype). The temporal discrimination threshold (TDT) is the shortest time interval at which two stimuli are detected to be asynchronous. We aimed to compare the sensitivity and specificity of three different TDT tasks (visual, tactile and mixed\\/visual-tactile). We also aimed to examine the sensitivity of TDTs in different AOPTD phenotypes. To examine tasks, we tested TDT in 41 patients and 51 controls using visual (2 lights), tactile (non-painful electrical stimulation) and mixed (1 light, 1 electrical) stimuli. To investigate phenotypes, we examined 71 AOPTD patients (37 cervical dystonia, 14 writer\\'s cramp, 9 blepharospasm, 11 spasmodic dysphonia) and 8 musician\\'s dystonia patients. The upper limit of normal was defined as control mean +2.5 SD. In dystonia patients, the visual task detected abnormalities in 35\\/41 (85%), the tactile task in 35\\/41 (85%) and the mixed task in 26\\/41 (63%); the mixed task was less sensitive than the other two (p = 0.04). Specificity was 100% for the visual and tactile tasks. Abnormal TDTs were found in 36 of 37 (97.3%) cervical dystonia, 12 of 14 (85.7%) writer\\'s cramp, 8 of 9 (88.8%) blepharospasm, 10 of 11 (90.1%) spasmodic dysphonia patients and 5 of 8 (62.5%) musicians. The visual and tactile tasks were found to be more sensitive than the mixed task. Temporal discrimination threshold results were comparable across common adult-onset primary torsion dystonia phenotypes, with lower sensitivity in the musicians.

  17. Motor unit abnormalities in Dystonia musculorum mice.

    Directory of Open Access Journals (Sweden)

    Yves De Repentigny

    Full Text Available Dystonia musculorum (dt is a mouse inherited sensory neuropathy caused by mutations in the dystonin gene. While the primary pathology lies in the sensory neurons of dt mice, the overt movement disorder suggests motor neurons may also be affected. Here, we report on the contribution of motor neurons to the pathology in dt(27J mice. Phenotypic dt(27J mice display reduced alpha motor neuron cell number and eccentric alpha motor nuclei in the ventral horn of the lumbar L1 spinal cord region. A dramatic reduction in the total number of motor axons in the ventral root of postnatal day 15 dt(27J mice was also evident. Moreover, analysis of the trigeminal nerve of the brainstem showed a 2.4 fold increase in number of degenerating neurons coupled with a decrease in motor neuron number relative to wild type. Aberrant phosphorylation of neurofilaments in the perikaryon region and axonal swellings within the pre-synaptic terminal region of motor neurons were observed. Furthermore, neuromuscular junction staining of dt(27J mouse extensor digitorum longus and tibialis anterior muscle fibers showed immature endplates and a significant decrease in axon branching compared to wild type littermates. Muscle atrophy was also observed in dt(27J muscle. Ultrastructure analysis revealed amyelinated motor axons in the ventral root of the spinal nerve, suggesting a possible defect in Schwann cells. Finally, behavioral analysis identified defective motor function in dt(27J mice. This study reveals neuromuscular defects that likely contribute to the dt(27J pathology and identifies a critical role for dystonin outside of sensory neurons.

  18. Postural & striatal deformities in Parkinson`s disease: Are these rare?

    Directory of Open Access Journals (Sweden)

    Sanjay Pandey

    2016-01-01

    Full Text Available Parkinson`s disease (PD is the most common neurodegenerative disease and is characterized by tremor, rigidity and akinesia. Diagnosis is clinical in the majority of the patients. Patients with PD may have stooped posture but some of them develop different types of postural and striatal deformities. Usually these deformities are more common in atypical parkinsonian disorders such as progressive supranuclear palsy and multisystem atrophy. But in many studies it has been highlighted that these may also be present in approximately one third of PD patients leading to severe disability. These include antecollis or dropped head, camptocormia, p0 isa syndrome, scoliosis, striatal hands and striatal toes. The pathogenesis of these deformities is a complex combination of central and peripheral influences such as rigidity, dystonia and degenerative skeletal changes. Duration of parkinsonism symptoms is an important risk factor and in majority of the patients these deformities are seen in advanced statge of the disease. The patients with such symptoms may initially respond to dopaminergic medications but if not intervened they may become fixed and difficult to treat. Pain and restriction of movement are most common clinical manifestations and these may mimick symptoms of musculoskeletal disorders like rheumatoid arthritis. Early diagnosis is important as the patients may respond to adjustment in dopaminergic medications. Recent advances such as deep brain stimulation (DBS and ultrasound guided botulinum toxin injection are helpful in management of these deformities in patients with PD.

  19. A mouse model for inducible overexpression of Prdm14 results in rapid-onset and highly penetrant T-cell acute lymphoblastic leukemia (T-ALL

    Directory of Open Access Journals (Sweden)

    Brandi L. Carofino

    2013-11-01

    PRDM14 functions in embryonic stem cell (ESC maintenance to promote the expression of pluripotency-associated genes while suppressing differentiation genes. Expression of PRDM14 is tightly regulated and typically limited to ESCs and primordial germ cells; however, aberrant expression is associated with tumor initiation in a wide variety of human cancers, including breast cancer and leukemia. Here, we describe the generation of a Cre-recombinase-inducible mouse model for the spatial and temporal control of Prdm14 misexpression [ROSA26 floxed-stop Prdm14 (R26PR]. When R26PR is mated to either of two Cre lines, Mx1-cre or MMTV-cre, mice develop early-onset T-cell acute lymphoblastic leukemia (T-ALL with median overall survival of 41 and 64 days for R26PR;Mx1-cre and R26PR;MMTV-cre, respectively. T-ALL is characterized by the accumulation of immature single-positive CD8 cells and their widespread infiltration. Leukemia is preceded by a dramatic expansion of cells resembling hematopoietic stem cells and lymphoid-committed progenitors prior to disease onset, accompanied by a blockage in B-cell differentiation at the early pro-B stage. Rapid-onset PRDM14-induced T-ALL requires factors that are present in stem and progenitor cells: R26PR;dLck-cre animals, which express Prdm14 starting at the double-positive stage of thymocyte development, do not develop disease. PRDM14-induced leukemic cells contain high levels of activated NOTCH1 and downstream NOTCH1 targets, including MYC and HES1, and are sensitive to pharmacological inhibition of NOTCH1 with the γ-secretase inhibitor DAPT. Greater than 50% of human T-ALLs harbor activating mutations in NOTCH1; thus, our model carries clinically relevant molecular aberrations. The penetrance, short latency and involvement of the NOTCH1 pathway will make this hematopoietic R26PR mouse model ideal for future studies on disease initiation, relapse and novel therapeutic drug combinations. Furthermore, breeding R26PR to additional Cre

  20. [The problem of the rational correction of arterial dystonia].

    Science.gov (United States)

    Grebennikov, E P

    1997-01-01

    An original classification is suggested of arterial dystonia, based on comparison of systolic to diastolic pressure ratios. There has been performed an analysis of effects of different drug preparations (including trace elements and vegetable drugs) tried separately on maximum and minimum arterial pressure.

  1. White matter abnormalities in gene-positive myoclonus-dystonia

    NARCIS (Netherlands)

    van der Meer, Johan N.; Beukers, Richard J.; van der Salm, S. M. A.; Caan, Matthan W. A.; Tijssen, Marina A. J.; Nederveen, Aart J.

    2012-01-01

    Myoclonus-dystonia is an autosomal dominantly inherited movement disorder clinically characterized by myoclonic jerks and dystonic movements of the upper body. Functional imaging and structural gray matter imaging studies in M-D suggest defective sensorimotor integration and an association between

  2. Modulation of the Muscle Activity During Sleep in Cervical Dystonia.

    Science.gov (United States)

    Antelmi, Elena; Ferri, Raffaele; Provini, Federica; Scaglione, Cesa M L; Mignani, Francesco; Rundo, Francesco; Vandi, Stefano; Fabbri, Margherita; Pizza, Fabio; Plazzi, Giuseppe; Martinelli, Paolo; Liguori, Rocco

    2017-07-01

    Impaired sleep has been reported as an important nonmotor feature in dystonia, but so far, self-reported complaints have never been compared with nocturnal video-polysomnographic (PSG) recording, which is the gold standard to assess sleep-related disorders. Twenty patients with idiopathic isolated cervical dystonia and 22 healthy controls (HC) underwent extensive clinical investigations, neurological examination, and questionnaire screening for excessive daytime sleepiness and sleep-related disorders. A full-night video PSG was performed in both patients and HC. An ad hoc montage, adding electromyographic leads over the muscle affected with dystonia, was used. When compared to controls, patients showed significantly increased pathological values on the scale assessing self-reported complaints of impaired nocturnal sleep. Higher scores of impaired nocturnal sleep did not correlate with any clinical descriptors but for a weak correlation with higher scores on the scale for depression. On video-PSG, patients had significantly affected sleep architecture (with decreased sleep efficiency and increased sleep latency). Activity over cervical muscles disappears during all the sleep stages, reaching significantly decreased values when compared to controls both in nonrapid eye movements and rapid eye movements sleep. Patients with cervical dystonia reported poor sleep quality and showed impaired sleep architecture. These features however cannot be related to the persistence of muscle activity over the cervical muscles, which disappears in all the sleep stages, reaching significantly decreased values when compared to HC.

  3. Botulinum toxin in cervical dystonia: low dosage with electromyographic guidance

    NARCIS (Netherlands)

    Brans, J. W.; de Boer, I. P.; Aramideh, M.; Ongerboer de Visser, B. W.; Speelman, J. D.

    1995-01-01

    Sixty patients with idiopathic cervical dystonia were treated a total of 240 times with botulinum toxin type A (BTA). Selected muscles were injected with BTA under electromyographic (EMG) guidance. The clinical effect was measured on the Tsui scale and a 10-point anchored visual analogue scale. A

  4. Paramedical treatment in primary dystonia: a systematic review.

    NARCIS (Netherlands)

    Delnooz, C.C.S.; Horstink, M.W.I.M.; Tijssen, M.A.; Warrenburg, B.P.C. van de

    2009-01-01

    Dystonia is a disabling movement disorder with a significant impact on quality of life. The current therapeutic armamentarium includes various drugs, botulinum toxin injections, and occasionally (neuro)surgery. In addition, many patients are referred for paramedical (including allied health care)

  5. Dystonia not dystopia: effects of the legal high, 'Clockwork Orange'.

    Science.gov (United States)

    Mackey, Helen Elizabeth; Hawksley, Oliver

    2015-12-10

    A 27-year-old man presented to hospital after smoking a legal high named 'Clockwork Orange'. He suffered dystonia, acute kidney injury, rhabdomyolysis, lactic acidosis and a troponin rise. He was treated with procyclidine and intravenous fluids. 2015 BMJ Publishing Group Ltd.

  6. Altered striatal and pallidal connectivity in cervical dystonia

    NARCIS (Netherlands)

    Delnooz, C.C.S.; Pasman, J.W; Beckmann, C.F.; Warrenburg, B.P.C van de

    2015-01-01

    Cervical dystonia is a neurological movement disorder characterized by involuntary, abnormal movements of the head and neck. Injecting the overactive muscles with botulinum toxin is the gold standard treatment, supported by good evidence (Delnooz and van de Warrenburg in Ther Adv Neurol Disord

  7. Phenotypic features of myoclonus-dystonia in three kindreds

    NARCIS (Netherlands)

    Doheny, DO; Morrison, CE; Smith, CJ; Walker, RH; Abbasi, S; Muller, B; Garrels, J; Liu, L; Aguiar, PD; Schilling, K; Kramer, P; de Leon, D; Raymond, D; Saunders-Pullman, R; Klein, C; Bressman, SB; Schmand, B; Tijssen, MAJ; Ozelius, LJ; Silverman, JM

    2002-01-01

    Background: Myoclonus-dystonia (M-D) is a movement disorder with involuntary jerks and dystonic contractions. Autosomal dominant alcohol-responsive M-D is associated with mutations in the E-sarcoglycan gene (SGCE) (six families) and with a missense change in the D2 dopamine receptor (DRD2) gene (one

  8. Functional MRI study of response inhibition in myoclonus dystonia

    NARCIS (Netherlands)

    van der Salm, Sandra M. A.; van der Meer, Johan N.; Nederveen, Aart J.; Veltman, Dick J.; van Rootselaar, Anne-Fleur; Tijssen, Marina A. J.

    Background: Myoclonus-dystonia (MD) is a movement disorder characterized by myoclonic jerks, dystonic postures and psychiatric co-morbidity. A mutation in the DYT11 gene underlies half of MD cases. We hypothesize that MD results from a dysfunctional basal ganglia network causing insufficient

  9. [Focal dystonia in musicians: Phenomenology and musical triggering factors].

    Science.gov (United States)

    Aránguiz, R; Chana-Cuevas, P; Alburquerque, D; Curinao, X

    2015-06-01

    Dystonias are defined as a joint sustained and involuntary contraction of agonist and antagonist muscles, which can cause torsion, repetitive abnormal involuntary movements, and/or abnormal postures. One special group of dystonias are those known as occupational, which include dystonia disorders triggered by a repetitive motor activity associated with a specific professional activity or task. Musicians are a population particularly vulnerable to these types of dystonia, which are presented as a loss of coordination and voluntary motor control movements highly trained in musical interpretation. Our aim is to describe a clinical series of focal dystonias in musicians evaluated and treated in our centre. Data is presented on a clinical series of 12 musicians with occupational dystonia. Their history and phenomenology are described, as well as well as their outcome after therapy. Demographic details: Mean age 34.8 ± 11.8 years, 10 males (83.3%) and 2 females (16.7%). History of trauma in dystonic segment, 6 patients (50%); family history of neurological diseases in first-degree relatives, 6 patients (50%); occupational history according to music category, 8 patients (66.6%) were classical musicians and 4 patients (33.3%) were popular musicians. The dystonia syndrome was characterised by having a mean age of onset of 28.2 ± 11.3 years (range 18-57 years). The segment affected was the hand (91.7%) in 11 patients. Of all the musicians seen in the clinic, 9 of them (75%) received therapy. The majority of patients appeared to have triggering factors specific to musical execution and linked to the requirement of fine motor control. It should be mentioned that 50% of the musicians treated maintained their professional activity or position in the orchestra to which they belonged. The majority of our phenomenological findings are consistent with those reported in the current literature. However, it is worth mentioning the presence of triggering factors attributed to the

  10. Voxel based morphometry reveals specific gray matter changes in primary dystonia.

    Science.gov (United States)

    Egger, Karl; Mueller, Joerg; Schocke, Michael; Brenneis, Christian; Rinnerthaler, Martina; Seppi, Klaus; Trieb, Thomas; Wenning, Gregor K; Hallett, Mark; Poewe, Werner

    2007-08-15

    The present study assessed patterns of brain tissue alterations in different types of primary dystonia using voxel-based morphometry (VBM). Nine patients with primary generalized dystonia (GD), 11 patients with primary cervical dystonia (CD), and 11 patients with primary focal hand dystonia (FHD) as well as 31 age and gender-matched controls were included. When compared with healthy controls, patients with primary dystonia (n=31) showed gray matter volume increase bilaterally in the globus pallidus internus, nucleus accumbens, prefrontal cortex, as well as unilaterally in the left inferior parietal lobe. This is the first study using VBM in patients with different types of primary dystonia, showing a common pattern of gray matter changes. Copyright (c) 2007 Movement Disorder Society.

  11. Deep brain stimulation and neuromodulation for torsion dystonia

    Directory of Open Access Journals (Sweden)

    Jing WANG

    2015-10-01

    Full Text Available Objective To discuss the curative effect and safety of deep brain stimulation (DBS and neuromodulation in the treatment of patients with torsion dystonia. Methods Ten patients with torsion dystonia underwent subthalamic nucleus DBS (STN-DBS and 3 patients with torsion dystonia underwent globus pallidus internus DBS (GPi-DBS. Regulate the stimulus parameters, evaluate the improvement of torsion dystonia by using Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS and record related adverse events. Results Among the 13 patients, 6 patients were improved by over 60% in 1-3 d and 3 patients one week after stimulation, and the improvement rate was > 75% in 6 months and > 85% in one year. Two patients showed improvement 2 months after stimulation, and the improvement rate was > 60% in 6 months and > 80% in one year. One patient showed slight improvement immediately after operation, and the improvement rate increased to 45% in 6 months and 75% in one year. One patient removed the stimulator. No adverse event related to the operation was found in all 13 patients. The stimulus parameters for STN-DBS were voltage 1.50-2.00 V, frequency 130-145 Hz, pulse width 60-90 μs at 6 months postoperatively, and were voltage 2.00-2.50 V, frequency 130-150 Hz, pulse width 60-90 μs at one year postoperatively. The stimulus parameters for GPi-DBS were voltage 2.50-2.80 V, frequency 130-160 Hz, pulse width 60-90 μs at 6 months postoperatively, and were voltage 2.50-4.00 V, frequency 145-170 Hz, pulse width 60-90 μs at one year postoperatively. Conclusions Both STN-DBS and GPi-DBS have good curative effect and safety in the treatment for torsion dystonia. Besides, patients should be treated with individual neuromodulation. DOI: 10.3969/j.issn.1672-6731.2015.10.007

  12. Cranial dystonia, blepharospasm and hemifacial spasm: clinical features and treatment, including the use of botulinum toxin.

    OpenAIRE

    Kraft, S. P.; Lang, A E

    1988-01-01

    Blepharospasm, the most frequent feature of cranial dystonia, and hemifacial spasm are two involuntary movement disorders that affect facial muscles. The cause of blepharospasm and other forms of cranial dystonia is not known. Hemifacial spasm is usually due to compression of the seventh cranial nerve at its exit from the brain stem. Cranial dystonia may result in severe disability. Hemifacial spasm tends to be much less disabling but may cause considerable distress and embarrassment. Patient...

  13. High-throughput mutational analysis of TOR1A in primary dystonia

    OpenAIRE

    Truong Daniel D; Tarsy Daniel; Simon David K; Hedera Peter; Uitti Ryan J; Wszolek Zbigniew K; Batish Sat; Blitzer Andrew; Paniello Randal C; Karimi Morvarid; Tabbal Samer D; Racette Brad A; Perlmutter Joel S; Bastian Robert W; Xiao Jianfeng

    2009-01-01

    Abstract Background Although the c.904_906delGAG mutation in Exon 5 of TOR1A typically manifests as early-onset generalized dystonia, DYT1 dystonia is genetically and clinically heterogeneous. Recently, another Exon 5 mutation (c.863G>A) has been associated with early-onset generalized dystonia and some ΔGAG mutation carriers present with late-onset focal dystonia. The aim of this study was to identify TOR1A Exon 5 mutations in a large cohort of subjects with mainly non-generalized primary dy...

  14. Sonographic alteration of lenticular nucleus in focal task-specific dystonia of musicians.

    Science.gov (United States)

    Walter, Uwe; Buttkus, Franziska; Benecke, Reiner; Grossmann, Annette; Dressler, Dirk; Altenmüller, Eckart

    2012-01-01

    In distinct movement disorders, transcranial sonography detects alterations of deep brain structures with higher sensitivity than other neuroimaging methods. Lenticular nucleus hyperechogenicity on transcranial sonography, thought to be caused by increased local copper content, has been reported as a characteristic finding in primary spontaneous dystonia. Here, we wanted to find out whether deep brain structures are altered in task-specific dystonia. The frequency of sonographic brainstem and basal ganglia changes was studied in an investigator-blinded setting in 15 musicians with focal task-specific hand dystonia, 15 musicians without dystonia, and 15 age- and sex-matched nonmusicians without dystonia. Lenticular nucleus hyperechogenicity was found in 12 musicians with task-specific dystonia, but only in 3 nondystonic musicians (Fisher's exact test, p = 0.001) and 2 nonmusicians (p musicians correlated with age, but not with duration of music practice or duration of dystonia. In 2 of 3 affected musicians with normal echogenic lenticular nucleus, substantia nigra hyperechogenicity was found. Our findings support the idea of a pathogenetic link between primary spontaneous and task-specific dystonia. Sonographic basal ganglia alteration might indicate a risk factor that in combination with extensive fine motor training promotes the manifestation of task-specific dystonia. Copyright © 2011 S. Karger AG, Basel.

  15. Aristotle's illusion in Parkinson's disease: evidence for normal interdigit tactile perception.

    Directory of Open Access Journals (Sweden)

    Mirta Fiorio

    Full Text Available Sensory alterations, a common feature of such movement disorders as Parkinson's disease (PD and dystonia, could emerge as epiphenomena of basal ganglia dysfunction. Recently, we found a selective reduction of tactile perception (Aristotle's illusion, the illusory doubling sensation of one object when touched with crossed fingers in the affected hand of patients with focal hand dystonia. This suggests that reduced tactile illusion might be a specific feature of this type of dystonia and could be due to abnormal somatosensory cortical activation. The aim of the current study was to investigate whether Aristotle's illusion is reduced in the affected hand of patients with PD. We tested 15 PD patients, in whom motor symptoms were mainly localised to one side of the body, and 15 healthy controls. Three pairs of fingers were tested in crossed (evoking the illusion or parallel position (not evoking the illusion. A sphere was placed in the contact point between the two fingers and the blindfolded participants had to say whether they felt one or two stimuli. Stimuli were applied on the affected and less or unaffected side of the PD patients. We found no difference in illusory perception between the PD patients and the controls, nor between the more affected and less/unaffected side, suggesting that Aristotle's illusion is preserved in PD. The retained tactile illusion in PD and its reduction in focal hand dystonia suggest that the basal ganglia, which are dysfunctional in both PD and dystonia, may not be causally involved in this function. Instead, the level of activation between digits in the somatosensory cortex may be more directly involved. Finally, the similar percentage of illusion in the more affected and less or unaffected body sides indicates that the illusory perception is not influenced by the presence or amount of motor symptoms.

  16. Kearns-Sayre syndrome "plus": classical clinical findings and dystonia

    Directory of Open Access Journals (Sweden)

    MARIE SUELY K.NAGAHASHI

    1999-01-01

    Full Text Available We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.

  17. Overuse Cervical Dystonia: A Case Report and Literature Review

    Directory of Open Access Journals (Sweden)

    Elliot Hogg

    2016-09-01

    Full Text Available Background: Overuse or task-specific dystonia has been described in a number of professions characterized by repetitive actions, typically affecting the upper extremities. Cervical dystonia (CD, however, has rarely been associated with overuse.Case Report: We present a case report of typical CD that developed in the context of chronic repetitive movements associated with the patient’s professional occupation as an office manager who spent many hours per day holding a phone to his ear.Discussion: Overuse CD should be suspected when typical symptoms and signs of CD develop in the context of chronic repetitive use or overuse of cervical muscles, especially where exacerbating tasks involve asymmetric postures. 

  18. Microstructural White Matter Changes in Primary Torsion Dystonia

    OpenAIRE

    Carbon, Maren; Kingsley, Peter B.; Tang, Chengke; Bressman, Susan; Eidelberg, David

    2008-01-01

    Primary torsion dystonia (PTD) has been conceptualized as a disorder of the basal ganglia. However, recent data suggest a widespread pathology involving motor control pathways. In this report, we explored whether PTD is associated with abnormal anatomical connectivity within motor control pathways. We used diffusion tensor magnetic resonance imaging (DT-MRI) to assess the microstructure of white matter. We found that fractional anisotropy, a measure of axonal integrity and coherence, was sign...

  19. Developing Gene Silencing for the Study and Treatment of Dystonia

    Science.gov (United States)

    2016-10-01

    disease know n as DYT1, in w hich children around age ten develop dystonia, usually in a leg or arm, and over 2 or 3 years spreads to affect all body ...Light grey font indicates experimental plan form months 1-12 (previous reporting period), black font experimental plan for months 13-24 (current...variability in genotypes and sex of animals obtained, we expect to generate a cohort of ~175 rats. Females will be sacrificed early and males of both

  20. Percheron thalamopeduncular syndrome with cervical dystonia: A case report

    OpenAIRE

    Vasconcellos,Luiz Felipe; Tiel,Chan; Sudo, Felipe Kenji; Moreira,Denise Madeira; Engelhardt,Eliasz

    2016-01-01

    ABSTRACT Bilateral thalamic infarctions are usually caused by occlusion of the "Artery of Percheron" (AoP). Thalamopeduncular syndrome is among the most common presentations of AoP occlusion. A 59-year-old male presented abrupt decreased level of consciousness. After several weeks, on regaining consciousness, he exhibited oculomotor abnormalities, ataxic gait, cervical dystonia, and cognitive and behavioral changes. Magnetic resonance imaging disclosed thalamic, subthalamic, mammillary and mi...

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  11. Unraveling Parkinson's: Three Clues

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    ... Navigation Bar Home Current Issue Past Issues Unraveling Parkinson's: Three Clues Past Issues / Summer 2006 Table of ... or prevent disease progression. Studies have shown that Parkinson's patients have lost 60 to 80 percent of ...

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  1. Parkinson's Disease Videos

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    Full Text Available ... In Your Area Resources & Support PD Library Legal, Financial, & Insurance Matters Blog For Caregivers Living with Parkinson's ... Briefings: Pain in PD Expert Briefings: Parkinson's Disease: Financial, Legal and Medical Planning Tips for Care Partners ...

  2. Cannabis in the Treatment of Dystonia, Dyskinesias, and Tics.

    Science.gov (United States)

    Koppel, Barbara S

    2015-10-01

    Cannabis has been used for many medicinal purposes, including management of spasms, dystonia, and dyskinesias, with variable success. Its use for tetanus was described in the second century BCE, but the literature continues to include more case reports and surveys of its beneficial effects in managing symptoms of hyperkinetic movement disorders than randomized controlled trials, making evidence-based recommendations difficult. This paper reviews clinical research using various formulations of cannabis (botanical products, oral preparations containing ∆(9)-tetrahydrocannabinol and/or cannabidiol) and currently available preparations in the USA (nabilone and dronabinol). This has been expanded from a recent systematic review of cannabis use in several neurologic conditions to include case reports and case series and results of anonymous surveys of patients using cannabis outside of medical settings, with the original evidence classifications marked for those papers that followed research protocols. Despite overlap in some patients, dyskinesias will be treated separately from dystonia and chorea; benefit was not established beyond individual patients for these conditions. Tics, usually due to Tourettes, did respond to cannabis preparations. Side effects reported in the trials will be reviewed but those due to recreational use, including the dystonia that can be secondary to synthetic marijuana preparations, are outside the scope of this paper.

  3. Neural correlates of abnormal sensory discrimination in laryngeal dystonia

    Directory of Open Access Journals (Sweden)

    Pichet Termsarasab

    2016-01-01

    Full Text Available Aberrant sensory processing plays a fundamental role in the pathophysiology of dystonia; however, its underpinning neural mechanisms in relation to dystonia phenotype and genotype remain unclear. We examined temporal and spatial discrimination thresholds in patients with isolated laryngeal form of dystonia (LD, who exhibited different clinical phenotypes (adductor vs. abductor forms and potentially different genotypes (sporadic vs. familial forms. We correlated our behavioral findings with the brain gray matter volume and functional activity during resting and symptomatic speech production. We found that temporal but not spatial discrimination was significantly altered across all forms of LD, with higher frequency of abnormalities seen in familial than sporadic patients. Common neural correlates of abnormal temporal discrimination across all forms were found with structural and functional changes in the middle frontal and primary somatosensory cortices. In addition, patients with familial LD had greater cerebellar involvement in processing of altered temporal discrimination, whereas sporadic LD patients had greater recruitment of the putamen and sensorimotor cortex. Based on the clinical phenotype, adductor form-specific correlations between abnormal discrimination and brain changes were found in the frontal cortex, whereas abductor form-specific correlations were observed in the cerebellum and putamen. Our behavioral and neuroimaging findings outline the relationship of abnormal sensory discrimination with the phenotype and genotype of isolated LD, suggesting the presence of potentially divergent pathophysiological pathways underlying different manifestations of this disorder.

  4. How Does GPi-DBS Affect Speech in Primary Dystonia?

    Science.gov (United States)

    Risch, Verena; Staiger, Anja; Ziegler, Wolfram; Ott, Katharina; Schölderle, Theresa; Pelykh, Olena; Bötzel, Kai

    2015-01-01

    Globus pallidus internus deep brain stimulation (GPi-DBS) can be an effective treatment for primary dystonia. However, speech disorders have previously been reported as a common possible side effect of the treatment. To study possible deterioration of speech after GPi-DBS and describe this in different dimensions. Speech was systematically evaluated in 15 patients with predominant torticollis and GPi-DBS. Each patient was tested twice within one day in two stimulation conditions: ON-DBS vs. OFF-DBS. Speech analyses comprised both function-oriented (perceptual scales, acoustic analyses) and communication-related measures (intelligibility, naturalness). A control sample of 15 healthy speakers underwent the same speech assessment. On the group level, patients with dystonia showed mild but significant impairment on the overall dysarthria scale, the intelligibility score, and the naturalness ratings in both stimulation conditions (Mann-Whitney, P childhood stuttering we found an aggravation of dysfluency. Impressive benefits could be documented in another patient who also suffered from spasmodic dysphonia. The study provides evidence that speech impairment is not a necessary side-effect of GPi-DBS in primary dystonia. Both, recurring of stuttering and a worsening of dysarthria may be seen in individual patients. The positive effects of GPi-DBS on the symptoms of spasmodic dysphonia merits further research as DBS is not commonly applied in this population. Copyright © 2015 Elsevier Inc. All rights reserved.

  5. Focal dystonia in musicians: Linking motor symptoms to somatosensory dysfunction

    Directory of Open Access Journals (Sweden)

    Juergen eKonczak

    2013-06-01

    Full Text Available Musician’s dystonia (MD is a neurological motor disorder characterized by involuntary contractions of those muscles involved in the play of a musical instrument. It is task-specific and initially only impairs the voluntary control of highly practiced musical motor skills. MD can lead to a severe decrement in a musician’s ability to perform. While the etiology and the neurological pathomechanism of the disease remain unknown, it is known that MD like others forms of focal dystonia is associated with somatosensory deficits, specifically a decreased precision of tactile and proprioceptive perception. The sensory component of the disease becomes also evident by the patients’ use sensory tricks such as touching dystonic muscles to alleviate motor symptoms. The central premise of this paper is that the motor symptoms of MD have a somatosensory origin and are not fully explained as a problem of motor execution. We outline how altered proprioceptive feedback ultimately leads to a loss of voluntary motor control and propose two scenarios that explain why sensory tricks are effective. Sensory tricks are effective, because the sensorimotor system either recruits neural resources normally involved in tactile-proprioceptive (sensory integration, or utilizes a fully functioning motor efference copy mechanism to align experienced with expected sensory feedback. We argue that an enhanced understanding of how a primary sensory deficit interacts with mechanisms of sensorimotor integration in musician’s dystonia provides helpful insights for the design of more effective behavioral therapies.

  6. Enfermedad de Parkinson

    OpenAIRE

    Orozco V., Jorge Luis; Fundación Valle de Lili

    2002-01-01

    ¿Qué tan frecuente es la enfermedad de Parkinson?/ ¿Qué ocasiona la enfermedad?/ ¿Existen otras formas de Parkinsonismo?/ ¿Quién desarrolla la enfermedad de Parkinson?/ ¿Cuales son los síntomas principales?/ ¿Cómo se diagnostica la enfermedad de Parkinson?/ ¿Cómo se trata la enfermedad?/Tratamiento quirúrgico/Aspectos prácticos del tratamiento/Verdades sobre la enfermedad de Parkinson.

  7. Parkinson's Disease Videos

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    Full Text Available ... CareMAP: Managing Advanced Parkinson's Website CareMAP: Managing Caregiver Stress CareMAP: Mealtime and Swallowing: Part 1 CareMAP: Mealtime ... Help Parkinson's Patients? How Does the DBS Device Work? How Is Parkinson's Disease Diagnosed? Is Compulsive Behavior ...

  9. Parkinson's Disease Videos

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    Full Text Available ... Parkinson's In Your Area Resources & Support Legal, Financial, & Insurance Matters For Caregivers Living with Parkinson's While living with PD can be challenging, there are many things you can do to maintain and improve your quality of life and live well with Parkinson's disease. Learn More ...

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  12. Distonias: aspectos terapêuticos Dystonias: therapeutic aspects

    Directory of Open Access Journals (Sweden)

    João Carlos Papaterra Limongi

    1996-03-01

    Full Text Available Diversas abordagens terapêuticas são utilizadas em pacientes com distonias. Sempre que possível, causas específicas devem ser identificadas e tratadas. As modalidades de tratamento sintomático podem ser agrupadas em três categorias: tratamento farmacológico, cirúrgico e injeções locais de toxina botulínica. Cada uma dessas modalidades apresenta algumas vantagens e limitações. Formas generalizadas, particularmente as de ocorrência na infância, podem se beneficiar com drogas anticolinérgicas ou, em alguns casos, com a levodopa ou outros agentes tais como antagonistas da dopamina, baclofeno e benzodiazepínicos. As formas focais não respondem adequadamente ao tratamento farmacológico sistêmico mas beneficiam-se significativamente com injeções de toxina botulínica nos grupos musculares acometidos. Cerca de 90% dos pacientes com blefarospasmo e 70% daqueles com distonia cervical apresentam resposta satisfatória a esse tipo de terapia. O tratamento cirúrgico tem sido utilizado em algumas formas de distonias generalizadas (lesões estereotáxicas, axiais (rizotomias ou focais (miectomias e neurectomias com resultados variáveis.Several approaches have been employed for the treatment of dystonias. Possible specific causes should be searched for and specific treatment should be instituted. Different types of symptomatic treatment are grouped according to the following categories: pharmacological systemic therapy, surgical therapy and botulinum toxin injections in the affected muscles. Each of these approaches has its advantages and limitations. Generalized dystonias should be treated with anticholinergic agents. In some cases, levodopa or other drugs such as dopamine antagonists, baclofen and benzodiazepines should be preferred. Focal dystonias respond dramatically to local injections of botulinum toxin. Over 90% of patients with blepharospasm and 70% of patients with cervical dystonia present a satisfactory response to this

  13. Sleep disorders in Parkinson?s disease

    OpenAIRE

    Jahan, Israt; Robert A. Hauser; Sullivan, Kelly L; Miller, Amber; Zesiewicz, Theresa A

    2009-01-01

    Sleep disorders occur commonly in Parkinson?s disease (PD), and reduce quality of life. Sleep-related problems in PD include insomnia, restless legs syndrome, rapid eye movement sleep behavior disorder, sleep apnea, parasomnias, excessive daytime sleepiness, and sleep attacks. This article reviews sleep disorders and their treatment in PD.

  14. Integration of sensory force feedback is disturbed in CRPS-related dystonia.

    Directory of Open Access Journals (Sweden)

    Winfred Mugge

    Full Text Available Complex regional pain syndrome (CRPS is characterized by pain and disturbed blood flow, temperature regulation and motor control. Approximately 25% of cases develop fixed dystonia. The origin of this movement disorder is poorly understood, although recent insights suggest involvement of disturbed force feedback. Assessment of sensorimotor integration may provide insight into the pathophysiology of fixed dystonia. Sensory weighting is the process of integrating and weighting sensory feedback channels in the central nervous system to improve the state estimate. It was hypothesized that patients with CRPS-related dystonia bias sensory weighting of force and position toward position due to the unreliability of force feedback. The current study provides experimental evidence for dysfunctional sensory integration in fixed dystonia, showing that CRPS-patients with fixed dystonia weight force and position feedback differently than controls do. The study shows reduced force feedback weights in CRPS-patients with fixed dystonia, making it the first to demonstrate disturbed integration of force feedback in fixed dystonia, an important step towards understanding the pathophysiology of fixed dystonia.

  15. Integration of sensory force feedback is disturbed in CRPS-related dystonia.

    Science.gov (United States)

    Mugge, Winfred; van der Helm, Frans C T; Schouten, Alfred C

    2013-01-01

    Complex regional pain syndrome (CRPS) is characterized by pain and disturbed blood flow, temperature regulation and motor control. Approximately 25% of cases develop fixed dystonia. The origin of this movement disorder is poorly understood, although recent insights suggest involvement of disturbed force feedback. Assessment of sensorimotor integration may provide insight into the pathophysiology of fixed dystonia. Sensory weighting is the process of integrating and weighting sensory feedback channels in the central nervous system to improve the state estimate. It was hypothesized that patients with CRPS-related dystonia bias sensory weighting of force and position toward position due to the unreliability of force feedback. The current study provides experimental evidence for dysfunctional sensory integration in fixed dystonia, showing that CRPS-patients with fixed dystonia weight force and position feedback differently than controls do. The study shows reduced force feedback weights in CRPS-patients with fixed dystonia, making it the first to demonstrate disturbed integration of force feedback in fixed dystonia, an important step towards understanding the pathophysiology of fixed dystonia.

  16. Stretch reflex responses in Complex Regional Pain Syndrome-related dystonia are not characterized by hyperreflexia

    NARCIS (Netherlands)

    Mugge, W.; Schouten, Alfred Christiaan; Bast, G.J.; Schuurmans, J.; van Hilten, J.J.; van der Helm, F.C.T.

    2012-01-01

    Objective To evaluate if hyperreflexia (exaggerated reflexes) due to disinhibition is associated with dystonia in Complex Regional Pain Syndrome (CRPS). Methods Stretch reflexes at the wrist were assessed in healthy controls (n = 10) and CRPS-patients with dystonia (n = 10). Subjects exerted a wrist

  17. Quality and reporting of guidelines on the diagnosis and management of dystonia

    NARCIS (Netherlands)

    Tamás, Gertrúd; Abrantes, Catarina; Valadas, Anabela; Radics, Péter; Albanese, Alberto; Tijssen, Marina A J; Ferreira, Joaquim J

    2017-01-01

    BACKGROUND: The quality of clinical practice guidelines on dystonia has not yet been assessed. Our aim was to appraise the methodological quality of guidelines worldwide and analyze the consistency of their recommendations. METHODS: We searched for clinical practice guidelines on dystonia

  18. Long-term follow-up study on deep brain stimulation for post-traumatic dystonia

    Directory of Open Access Journals (Sweden)

    Chang LIU

    2015-10-01

    Full Text Available Background Deep brain stimulation (DBS offers a very promising therapy for medically intractable dystonia. Among different dystonia subtypes, the surgical outcome of primary dystonia is most convincing, while that of post-traumatic dystonia is uncertain. This paper aims to evaluate the effect of DBS on post-traumatic dystonia. Methods Four patients of post-traumatic dystonia treated with DBS on globus pallidus internus (GPi or subthalamic nucleus (STN were reviewed and their surgical effect was evaluated. Outcome assessments were based on Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS movement and disability scores preoperatively and one month, 6 months, one year and 2 years after surgery. Improvement rate was counted to evaluate the curative effect. Results BFMDRS movement scores were improved by 38.35%, 47.28%, 62.74% and 68.69% respectively, and disability scores were improved by 35.36% , 46.83% , 59.60% and 67.01% respectively. Imaging features of these patients were reviewed. Although the location and size of encephalomalacia differed among these patients, the anatomical features of basal ganglia remained intact. Conclusions With strict selection, DBS may be a promising treatment to ameliorate the symptoms of post-traumatic dystonia. The surgical effect may be sustainable in long term. Anatomical integrity of basal ganglia may be an important factor to predict good outcome. DOI: 10.3969/j.issn.1672-6731.2015.10.006

  19. Treatment of cervical dystonia: a comparison of measures for outcome assessment

    NARCIS (Netherlands)

    Lindeboom, R.; Brans, J. W.; Aramideh, M.; Speelman, H. D.; de Haan, R. J.

    1998-01-01

    There is little agreement on which outcome measures to use to express the efficacy of treatments for cervical dystonia. We analyzed change scores on various scales of 64 new patients with cervical dystonia before and after repeated injections with botulinum toxin. METHOD: The association between

  20. A gait paradigm reveals different patterns of abnormal cerebellar motor learning in primary focal dystonias

    NARCIS (Netherlands)

    Hoffland, B.S.; Veugen, L.C.; Janssen, M.M.M.; Pasman, J.W.; Weerdesteyn, V.G.M.; Warrenburg, B.P.C. van de

    2014-01-01

    Accumulating evidence points to a role of the cerebellum in the pathophysiology of primary dystonia. The aim of this study was to investigate whether the abnormalities of cerebellar motor learning in primary dystonia are solely detectable in more pure forms of cerebellum-dependent associative motor

  1. Temporal profile of improvement of tardive dystonia after globus pallidus deep brain stimulation.

    Science.gov (United States)

    Shaikh, Aasef G; Mewes, Klaus; DeLong, Mahlon R; Gross, Robert E; Triche, Shirley D; Jinnah, H A; Boulis, Nicholas; Willie, Jon T; Freeman, Alan; Alexander, Garrett E; Aia, Pratibha; Butefisch, Cathrine M; Esper, Christine D; Factor, Stewart A

    2015-02-01

    Several case reports and small series have indicated that tardive dystonia is responsive to globus pallidus deep brain stimulation. Whether different subtypes or distributions of tardive dystonia are associated with different outcomes remains unknown. We assessed the outcomes and temporal profile of improvement of eight tardive dystonia patients who underwent globus pallidus deep brain stimulation over the past six years through record review. Due to the retrospective nature of this study, it was not blinded or placebo controlled. Consistent with previous studies, deep brain stimulation improved the overall the Burke-Fahn-Marsden motor scores by 85.1 ± 13.5%. The distributions with best responses in descending order were upper face, lower face, larynx/pharynx, limbs, trunk, and neck. Patients with prominent cervical dystonia demonstrated improvement in the Toronto Western Spasmodic Torticollis Rating Scale but improvements took several months. In four patients the effects of deep brain stimulation on improvement in Burke Fahn Marsden score was rapid, while in four cases there was partial rapid response of neck and trunk dystonia followed by was gradual resolution of residual symptoms over 48 months. Our retrospective analysis shows excellent resolution of tardive dystonia after globus pallidus deep brain stimulation. We found instantaneous response, except with neck and trunk dystonia where partial recovery was followed by further resolution at slower rate. Such outcome is encouraging for using deep brain stimulation in treatment of tardive dystonia. Copyright © 2014 Elsevier Ltd. All rights reserved.

  2. The effectiveness of physiotherapy for cervical dystonia: a systematic literature review

    NARCIS (Netherlands)

    Pauw, J. De; Velden, K. van der; Meirte, J.; Daele, U. Van; Truijen, S.; Cras, P.; Mercelis, R.; Hertogh, W. de

    2014-01-01

    Cervical dystonia is a form of adult-onset, focal dystonia characterized by involuntary contractions of the neck muscles, leading to a disabling, abnormal head posture. CD has a great impact on the activities of daily living (ADL) and quality of life. Currently, the most widely used and recommended

  3. Cognitive function in children with primary dystonia before and after deep brain stimulation.

    Science.gov (United States)

    Owen, Tamsin; Gimeno, Hortensia; Selway, Richard; Lin, Jean-Pierre

    2015-01-01

    Dystonia is characterised by involuntary movements (twisting, writhing and jerking) and postures. The effects of deep brain stimulation (DBS) surgery on the motor aspect of primary dystonias have been well reported, however, there is a paucity of research investigating its impact on cognitive function, particularly in childhood dystonia. We performed a follow-up of cognitive function in children with primary dystonia following DBS pallidal surgery. Cognitive function was measured in a cohort of 13 children with primary or primary plus dystonia who had undergone DBS surgery using a retrospective case series design. Baseline pre-DBS neuropsychological measures were compared to scores obtained at least one year following DBS. Cognitive function was assessed using standardised measures of intellectual ability and memory. All children demonstrated improvements with regard to dystonia reduction, as measured by the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS). Overall, cognition remained stable following DBS in the majority of the cohort. Individual case analysis revealed improvements in some domains of cognitive function in eight members of the cohort and a deterioration of certain domains in four. Cognition largely remained stable in children with primary/primary plus dystonia following DBS surgery, although further research with a larger sample is necessary to explore this statistically. Notwithstanding the limitations of a small size, this preliminary data has potentially positive implications for the impact of DBS on cognitive functioning within a paediatric population. Crown Copyright © 2014. Published by Elsevier Ltd. All rights reserved.

  4. Clinical Practice: evidence-Based Recommendations for the Treatment of Cervical Dystonia with Botulinum Toxin

    NARCIS (Netherlands)

    Contarino, Maria Fiorella; van den Dool, Joost; Balash, Yacov; Bhatia, Kailash; Giladi, Nir; Koelman, Johannes H.; Lokkegaard, Annemette; Marti, Maria J.; Postma, Miranda; Relja, Maja; Skorvanek, Matej; Speelman, Johannes D.; Zoons, Evelien; Ferreira, Joaquim J.; Vidailhet, Marie; Albanese, Alberto; Tijssen, Marina A. J.

    2017-01-01

    Cervical dystonia (CD) is the most frequent form of focal dystonia. Symptoms often result in pain and functional disability. Local injections of botulinum neurotoxin are currently the treatment of choice for CD. Although this treatment has proven effective and is widely applied worldwide, many

  5. Camptocormia in Parkinson's Disease: A Muscle Disease Due to Dysregulated Proprioceptive Polysynaptic Reflex Arch

    OpenAIRE

    Walter J. Schulz-Schaeffer

    2016-01-01

    Camptocormia (from the Greek “kamptein” = to bend and “kormos” = trunk) is an anterior flexion of the thoracolumbar spine while standing, walking, or sitting that disappears in the supine position. The syndrome, also known as “bent spine syndrome,” occurs in nearly 10% of idiopathic Parkinson's disease (iPD) patients (Yoritaka et al., 2013), but also in other neurodegenerative diseases and may occur in myopathies with axial involvement, in all forms of myositis, in dystonia, as a pharmacologi...

  6. Proportion of life lived with dystonia inversely correlates with response to pallidal deep brain stimulation in both primary and secondary childhood dystonia.

    Science.gov (United States)

    Lumsden, Daniel E; Kaminska, Margaret; Gimeno, Hortensia; Tustin, Kylee; Baker, Lesley; Perides, Sarah; Ashkan, Keyoumars; Selway, Richard; Lin, Jean-Pierre

    2013-06-01

    The aim of this study was to examine the impact of dystonia aetiology and duration, contracture, and age at deep brain stimulation (DBS) surgery on outcome in a cohort of children with medically refractory, disabling primary, secondary-static, or secondary-progressive dystonias, including neurodegeneration with brain iron accumulation (NBIA). Dystonia severity was assessed using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) motor score at baseline and 6 and 12 months postoperatively in a cohort of 70 consecutive children undergoing DBS between June 2005 and July 2011. Two children (3%) received unilateral DBS for hemidystonia and were excluded and five (7%) developed infections requiring part-DBS removal within 6 months, leaving 63 children (90%) undergoing bilateral DBS for follow-up (34 males, 29 females; mean age at surgery for the whole group 10y 4mo, SD 4y 2mo, range 1-14y). Seventeen children were classified with primary dystonia: mean age 12 years 11 months, SD 4 years 6 months range 4 years 6 months to 17 years 3 months; 28 as having secondary-static dystonia: mean age 10 years 2 months, SD 4 years 9 months (range 3y 3mo-20y); five as having secondary-progressive dystonia: mean age 8 years 11 months, SD 3 years 9 months (range 5y 5mo-13y 1mo); and 13 as having NBIA dystonia: mean age 10 years 2 months, SD 3 years 11 months (range 1-14y). Children with primary dystonias demonstrated greater improvements in BFMDRS motor score than those in the other aetiological categories (Kruskal-Wallis test, pmotor development in comparison with the primary dystonia group. A significant improvement in BFMDRS motor score was seen in the NBIA group at 6, but not 12 months (Wilcoxon signed rank test p=0.028, p=0.85 respectively). No reduction in efficacy was seen in children with a musculoskeletal deformity at the time of surgery. Response to pallidal DBS in the treatment of dystonia declines with the proportion of life lived with dystonia in

  7. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.

    Science.gov (United States)

    Djarmati, Ana; Schneider, Susanne A; Lohmann, Katja; Winkler, Susen; Pawlack, Heike; Hagenah, Johann; Brüggemann, Norbert; Zittel, Simone; Fuchs, Tania; Raković, Aleksandar; Schmidt, Alexander; Jabusch, Hans-Christian; Wilcox, Robert; Kostić, Vladimir S; Siebner, Hartwig; Altenmüller, Eckart; Münchau, Alexander; Ozelius, Laurie J; Klein, Christine

    2009-05-01

    DYT6 is a primary, early-onset torsion dystonia; however, unlike in DYT1 dystonia, the symptoms of DYT6 dystonia frequently involve the craniocervical region. Recently, two mutations in THAP1, the gene that encodes THAP (thanatos-associated protein) domain-containing apoptosis-associated protein 1 (THAP1), have been identified as a cause of DYT6 dystonia. We screened THAP1 by sequence analysis and quantitative real-time polymerase chain reaction (PCR) in 160 white patients of European ancestry who had dystonia with an early age at onset (n=64), generalised dystonia (n=35), a positive family history of dystonia (n=56), or facial or laryngeal dystonia. Another 160 patients with dystonia were screened for reported and novel variants in THAP1. 280 neurologically healthy controls were screened for the newly identified and previously reported changes in THAP1 and these and an additional 75 controls were screened for a rare non-coding mutation. We identified two mutations in THAP1 (388_389delTC and 474delA), respectively, in two (1%) German patients from the 160 patients with dystonia. Both mutation carriers had laryngeal dystonia that started in childhood and both went on to develop generalised dystonia. Thus, two of three patients with early-onset generalised dystonia with orobulbar involvement had mutations in THAP1. One of the identified patients with DYT6 dystonia had two family members with subtle motor signs who also carried the same mutation. A rare substitution in the 5'untranslated region (-236_235GA-->TT) was found in 20 of 320 patients and in seven of 355 controls (p=0.0054). Although mutations in THAP1 might have only a minor role in patients with different, but mainly focal, forms of dystonia, they do seem to be associated with early-onset generalised dystonia with spasmodic dysphonia. This combination of symptoms might be a characteristic feature of DYT6 dystonia and could be useful in the differential diagnosis of DYT1, DYT4, DYT12, and DYT17 dystonia. In

  8. Motor assessment in Parkinson`s disease.

    Science.gov (United States)

    Opara, Józef; Małecki, Andrzej; Małecka, Elżbieta; Socha, Teresa

    2017-09-21

    Parkinson's disease (PD) is one of most disabling disorders of the central nervous system. The motor symptoms of Parkinson's disease: shaking, rigidity, slowness of movement, postural instability and difficulty with walking and gait, are difficult to measure. When disease symptoms become more pronounced, the patient experiences difficulties with hand function and walking, and is prone to falls. Baseline motor impairment and cognitive impairment are probable predictors of more rapid motor decline and disability. An additional difficulty is the variability of the symptoms caused by adverse effects of drugs, especially levodopa. Motor assessment of Parkinson`s Disease can be divided into clinimetrics, assessment of balance and posture, arm and hand function, and gait/walking. These are many clinimetric scales used in Parkinson`s Disease, the most popular being the Hoehn and Yahr stages of progression of the disease and Unified Parkinson's Disease Rating Scale. Balance and posture can be assessed by clinimetric scales like the Berg BS, Tinetti, Brunel BA, and Timed Up and Go Test, or measured by posturometric platforms. Among skill tests, the best known are: the Purdue Pegboard Test, Nine-Hole Peg Test, Jebsen and Taylor test, Pig- Tail Test, Frenchay Arm Test, Action Research Arm Test, Wolf FMT and Finger-Tapping Test. Among motricity scales, the most popular are: the Fugl-Meyer Motor Assessment Scale and Södring Motor Evaluation. Gait and walking can also be assessed quantitatively and qualitatively. Recently, the most popular is three-dimensional analysis of movement. This review article presents the current possibilities of motor assessment in Parkinson`s disease.

  9. Parkinson?s disease between internal medicine and neurology

    OpenAIRE

    Csoti, Ilona; Jost, Wolfgang H.; Reichmann, Heinz

    2015-01-01

    General medical problems and complications have a major impact on the quality of life in all stages of Parkinson?s disease. To introduce an effective treatment, a comprehensive analysis of the various clinical symptoms must be undertaken. One must distinguish between (1) diseases which arise independently of Parkinson?s disease, and (2) diseases which are a direct or indirect consequence of Parkinson?s disease. Medical comorbidity may induce additional limitations to physical strength and cop...

  10. Metabolic topography of Parkinsonism

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jae Seung [Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of)

    2007-04-15

    Parkinson's disease is one of the most frequent neurodegenerative diseases, which mainly affects the elderly. Parkinson's disease is often difficult to differentiate from atypical parkinson disorder such as progressive supranuclear palsy, multiple system atrophy, dementia with Lewy body, and corticobasal ganglionic degeneration, based on the clinical findings because of the similarity of phenotypes and lack of diagnostic markers. The accurate diagnosis of Parkinson's disease and atypical Parkinson disorders is not only important for deciding on treatment regimens and providing prognosis, but also it is critical for studies designed to investigate etiology and pathogenesis of parkinsonism and to develop new therapeutic strategies. Although degeneration of the nigrostriatal dopamine system results in marked loss of striatal dopamine content in most of the diseases causing parkinsonism, pathologic studies revealed different topographies of the neuronal cell loss in Parkinsonism. Since the regional cerebral glucose metabolism is a marker of integrated local synaptic activity and as such is sensitive to both direct neuronal/synaptic damage and secondary functional disruption at synapses distant from the primary site of pathology, and assessment of the regional cerebral glucose metabolism with F-18 FDG PET is useful in the differential diagnosis of parkinsonism and evaluating the pathophysiology of Parkinsonism.

  11. How Is Parkinson's Disease Treated?

    Science.gov (United States)

    ... Parkinson's There is a lot to know about Parkinson's disease. Learn about symptoms, how it is diagnosed and ... your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers ...

  12. Genetics Home Reference: Parkinson disease

    Science.gov (United States)

    ... Email Facebook Twitter Home Health Conditions Parkinson disease Parkinson disease Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Parkinson disease is a progressive disorder of the nervous ...

  13. Case report: Physical therapy management of axial dystonia.

    Science.gov (United States)

    Voos, Mariana Callil; Oliveira, Tatiana de Paula; Piemonte, Maria Elisa Pimentel; Barbosa, Egberto Reis

    2014-01-01

    Few studies have described physical therapy approaches to provide functional independence and reduce pain in individuals with dystonia. This report describes the physical therapy treatment of a 46-year-old woman diagnosed with idiopathic segmental axial dystonia. For two years, the patient was treated with kinesiotherapy (active and resisted movements and stretching of neck and trunk muscles), abdominal taping (kinesiotaping techniques), functional training, and sensory tricks. She was assessed with parts I, II and III of Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS-I, TWSTRS-II and TWSTRS-III), Berg Balance Scale (BBS), Six-Minute Walk Test (6-MWT), and the motor domain of Functional Independence Measure (FIM-motor) before and after the two-year treatment and after the one year follow-up. Postural control and symmetry improved (TWSTRS-I: from 30 to 18), functional independence increased (TWSTRS-II: from 27 to 15; BBS: from 36 to 46; 6-MWT: from 0 to 480 meters (m); FIM-motor: from 59 to 81), and the pain diminished (TWSTRS-III: from 12 to 5). The functional improvement was retained after one year (TWSTRS-I: 14/35; TWRTRS-II: 12/30; TWRTRS-III: 5/20; BBS: 48/56; 6-MWT: 450 m; FIM-motor: 81/91). This program showed efficacy on providing a better control of the dystonic muscles and thus the doses of botulinum toxin needed to treat them could be reduced. Outcomes support the therapeutic strategies used to deal with this type of dystonia.

  14. [Personality and psychic deadaptation of airline pilots with neurocirculatory dystonia].

    Science.gov (United States)

    Krapivnitskaia, T A

    2006-01-01

    In-depth clinical psychological investigation of airline pilots with neurocirculatory dystonia (n=194, mean age 38.57 +/- 0.85) and essentially healthy control pilots (n=183, mean age 38.4+/-0.92) revealed distinctive features in NCD pilots' mentality and behavior including personality, interpersonal communication, type of thinking, stress reaction, protection tactics, and mental dysfunctions. Psychic deadaptation such as symptoms of psychic asthenia, paranoia, depression, schizophrenia, and impulsive behavior had a negative effect on the clinical course and led to medical disqualification of 15% of NCD pilots.

  15. Paroxysmal Autonomic Instability with Dystonia after Pneumococcal Meningoencephalitis

    Directory of Open Access Journals (Sweden)

    Layal Safadieh

    2012-01-01

    Full Text Available Streptococcus pneumoniae is a common cause of bacterial meningitis, frequently resulting in severe neurological impairment. A seven-month-old child presenting with Streptococcus pneumoniae meningoencephalitis developed right basal ganglia and hypothalamic infarctions. Daily episodes of agitation, hypertension, tachycardia, diaphoresis, hyperthermia, and decerebrate posturing were observed. The diagnosis of paroxysmal autonomic instability with dystonia was established. The patient responded to clonidine, baclofen, and benzodiazepines. Although this entity has been reported in association with traumatic brain injury, and as a sequel to some nervous system infections, this is the first case, to our knowledge, associated with pneumococcal meningoencephalitis.

  16. Pallidal low β-low γ phase-amplitude coupling inversely correlates with Parkinson disease symptoms.

    Science.gov (United States)

    Tsiokos, Christos; Malekmohammadi, Mahsa; AuYong, Nicholas; Pouratian, Nader

    2017-09-05

    Recent discoveries suggest that it is most likely the coupling of β oscillations (13-30Hz) and not merely their power that relates to Parkinson disease (PD) pathophysiology. We analyzed power and phase amplitude coupling (PAC) in local field potentials (LFP) recorded from Pallidum after placement of deep brain stimulation (DBS) leads in nineteen PD patients and three patients with dystonia. Within GPi, we identified PAC between phase of β and amplitude of high frequency oscillations (200-300Hz) and distinct β-low γ (40-80Hz) PAC both modulated by contralateral movement. Resting β-low γ PAC, also present in dystonia patients, inversely correlated with severity of rigidity and bradykinesia (R=-0.44, P=0.028). These findings were specific to the low β band, suggesting a differential role for the two β sub-bands. PAC is present across distinct frequency bands within the GPi. Given the presence of low β-low γ PAC in dystonia and the inverse correlation with symptom severity, we propose that this PAC may be a normal pallidal signal. This study provides new evidence on the pathophysiological contribution of local pallidal coupling and suggests similar and distinct patterns of coupling within GPi and STN in PD. Copyright © 2017 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.

  17. Novel use of intrathecal baclofen drug delivery system for periodic focal dystonia in a teenager.

    Science.gov (United States)

    Bahl, Anuj; Tripathi, Claire; McMullan, John; Goddard, John

    2013-01-01

     Focal dystonia, often affecting part of a limb, is a manifestation of complex regional pain syndrome (CRPS). This can be difficult to diagnose and treat. Furthermore, there may be significant latency between the onset of dystonia after the diagnosis of CRPS. We present the case of a 15-year-old girl with periodic focal dystonia who has been successfully treated with an intrathecal baclofen pump.  The patient had sustained a minor ankle fracture four years prior to presentation. Despite radiologic evidence of adequate bony union, the patient continued to complain of spasms and pain in her left foot leading to dystonic posturing of the foot. Multiple therapies including subcutaneous morphine infusion, ankle splinting, physiotherapy, and local botulinum injections had not provided adequate relief. Intrathecal baclofen on three separate occasions resulted in successful temporary resolution of the dystonia. A placebo double-blinded injection of intrathecal saline at a separate setting however did not resolve the dystonia.  We then proceeded with permanent delivery of baclofen by implantation of an intrathecal drug delivery pump, which resulted in resolution of the dystonia. The patient also was able to receive bolus doses of intrathecal baclofen. The patient is now able to partake in sporting and dancing activities. A detailed history of the patient, along with the difficulties in diagnosis and management, is presented.  Intrathecal baclofen therapy can be effective in the management of focal dystonia after rigorous preoperative testing and counseling of adolescents with CRPS. © 2012 International Neuromodulation Society.

  18. Proprioceptive dysfunction in focal dystonia: from experimental evidence to rehabilitation strategies.

    Directory of Open Access Journals (Sweden)

    Laura eAvanzino

    2014-12-01

    Full Text Available Dystonia has historically been considered a disorder of the basal ganglia, mainly affecting planning and execution of voluntary movements. This notion comes from the observation that most lesions responsible for secondary dystonia involve the basal ganglia. However, what emerges from recent research is that dystonia is linked to the dysfunction of a complex neural network that comprises basal ganglia-thalamic-frontal cortex, but also the inferior parietal cortex and the cerebellum. While dystonia is clearly a motor problem, it turned out that sensory aspects are also fundamental, especially those related to proprioception.We outline experimental evidence for proprioceptive dysfunction in focal dystonia from intrinsic sensory abnormalities to impaired sensorimotor integration, that is the process by which sensory information is used to plan and execute volitional movements. Particularly, we will focus on proprioceptive aspects of dystonia, including: i processing of vibratory input, ii temporal discrimination of two passive movements, iii multimodal integration of visual-tactile and proprioceptive inputs and, iv motor control in the absence of visual feedback. We suggest that these investigations contribute not only to a better understanding of dystonia pathophysiology, but also to develop rehabilitation strategies aimed at facilitating the processing of proprioceptive input.

  19. Childhood Laryngeal Dystonia Following Bilateral Globus Pallidus Abnormality: A Case Study and Review of Literature

    Directory of Open Access Journals (Sweden)

    Mohammad Javad Saeedi Borujeni

    2017-01-01

    Full Text Available Introduction:Dystonia is a disorder of movement caused by various etiologies. Laryngeal dystonia is caused by the spasm of laryngeal muscles. It is a disorder caused by vocal fold movement in which excessive adduction or abduction of the vocal folds occurs during speech. The pathophysiology of this type of dystonia is not fully known. Some researchers have suggested that basal ganglia structures and their connections with cortical areas have been involved in the pathogenesis of dystonia. Case Report:In this paper a 7.5-year-old boy suffering from laryngeal dystonia with bilateral lesions in Globus Pallidus is presented. The patient also suffered from swallowing problems, monotone voice, vocal tremor, hypersensitivity of gag reflex, and stuttering. Drug treatment failed to cure him; therefore, he was referred to rehabilitation therapy.  Conclusion:In conclusion, special attention should be brought upon laryngeal dystonia, especially in patients showing Extra-pyramidal symptoms and/or abnormalities of the basal ganglia. In children, laryngeal dystonia may be potentially fatal. Lack of consideration for this condition during rehabilitation therapy can lead to serious consequences for a child.

  20. Parkinson's Disease Videos

    Medline Plus

    Full Text Available ... Managing Depression, Anxiety & Psychosis OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis OHSU - Therapeutic Approaches for PD: Depression, Anxiety & ...

  1. Parkinson's Disease Videos

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    Full Text Available ... live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers of Excellence Bringing Care to You Expert Care Programs Professional Education Expert ...

  2. Sporadic adult onset primary torsion dystonia is a genetic disorder by the temporal discrimination test.

    LENUS (Irish Health Repository)

    Kimmich, Okka

    2012-02-01

    Adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance; patients with sporadic adult-onset primary torsion dystonia are much more prevalent than familial. The temporal discrimination threshold is the shortest time interval at which two stimuli are detected to be asynchronous and has been shown to be abnormal in adult-onset primary torsion dystonia. The aim was to determine the frequency of abnormal temporal discrimination thresholds in patients with sporadic adult-onset primary torsion dystonia and their first-degree relatives. We hypothesized that abnormal temporal discrimination thresholds in first relatives would be compatible with an autosomal dominant endophenotype. Temporal discrimination thresholds were examined in 61 control subjects (39 subjects <50 years of age; 22 subjects >50 years of age), 32 patients with sporadic adult-onset primary torsion dystonia (cervical dystonia n = 30, spasmodic dysphonia n = 1 and Meige\\'s syndrome n = 1) and 73 unaffected first-degree relatives (36 siblings, 36 offspring and one parent) using visual and tactile stimuli. Z-scores were calculated for all subjects; a Z > 2.5 was considered abnormal. Abnormal temporal discrimination thresholds were found in 1\\/61 (2%) control subjects, 27\\/32 (84%) patients with adult-onset primary torsion dystonia and 32\\/73 (44%) unaffected relatives [siblings (20\\/36; 56%), offspring (11\\/36; 31%) and one parent]. When two or more relatives were tested in any one family, 22 of 24 families had at least one first-degree relative with an abnormal temporal discrimination threshold. The frequency of abnormal temporal discrimination thresholds in first-degree relatives of patients with sporadic adult-onset primary torsion dystonia is compatible with an autosomal dominant disorder and supports the hypothesis that apparently sporadic adult-onset primary torsion dystonia is genetic in origin.

  3. Clinical and Phenomenological Characteristics of Patients with Task-Specific Lingual Dystonia: Possible Association with Occupation

    Directory of Open Access Journals (Sweden)

    Kazuya Yoshida

    2017-12-01

    Full Text Available BackgroundLingual dystonia is a subtype of oromandibular dystonia, which is a movement disorder characterized by involuntary sustained or intermittent contraction of the masticatory and/or tongue muscles. Lingual dystonia interferes with important daily activities, such as speaking, chewing, and swallowing, resulting in vocational and social disability.ObjectiveThe aim of this study was to investigate a possible relationship between occupation and the development of lingual dystonia.MethodsPhenomenological and clinical characteristics of 95 patients [53 females (55.8% and 42 males (44.2%, mean age 48.0 years] with task-specific, speech-induced lingual dystonia were analyzed. Structured interviews were carried out to obtain information regarding primary occupation, including overtime work and stress during work. The factors that might have influenced the development of lingual dystonia were estimated using multivariate logistic regression analysis of the 95 patients with lingual dystonia and 95 controls [68 females (71.6% and 27 males (28.4%, mean age 47.2 years] with temporomandibular disorders.ResultsOverall, 84.2% of the patients had regular occupations; 73.8% of the patients with regular occupations reported working overtime more than twice a week, and 63.8% of them experienced stress at the workplace. Furthermore, 82.1% of the patients had engaged in occupations that required them to talk to customers or other people under stressful situations over prolonged periods of time for many years (mean: 15.6 years. The most common occupation was sales representative (17.9%, followed by telephone operator (13.7%, customer service representative (10.5%, health care worker (9.5%, waiter or waitress (5.3%, receptionist (5.3%, and cashier (5.3%. Twenty-nine patients (30.5% had tardive lingual dystonia. Logistic regression analyses revealed that frequent requirements for professional speaking (p = 0.011, odds ratio: 5.66, high stress during work

  4. A randomized double-blind crossover trial comparing subthalamic and pallidal deep brain stimulation for dystonia

    DEFF Research Database (Denmark)

    Schjerling, Lisbeth; Hjermind, Lena E; Jespersen, Bo

    2013-01-01

    Object The authors' aim was to compare the subthalamic nucleus (STN) with the globus pallidus internus (GPi) as a stimulation target for deep brain stimulation (DBS) for medically refractory dystonia. Methods In a prospective double-blind crossover study, electrodes were bilaterally implanted in ...... with focal dystonia (torticollis) by examining the video recordings. Results On average for all patients, DBS improved the BFMDRS movement scores (p...... ratings were assessed by using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and video recordings. Quality of life was evaluated by using questionnaires (36-item Short Form Health Survey). Supplemental Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) scores were assessed for patients...

  5. Spasticity and spastic dystonia: the two faces of velocity-dependent hypertonia.

    Science.gov (United States)

    Marinelli, Lucio; Currà, Antonio; Trompetto, Carlo; Capello, Elisabetta; Serrati, Carlo; Fattapposta, Francesco; Pelosin, Elisa; Phadke, Chetan; Aymard, Claire; Puce, Luca; Molteni, Franco; Abbruzzese, Giovanni; Bandini, Fabio

    2017-12-01

    Spasticity and spastic dystonia are two separate phenomena of the upper motor neuron syndrome. Spasticity is clinically defined by velocity-dependent hypertonia and tendon jerk hyperreflexia due to the hyper-excitability of the stretch reflex. Spastic dystonia is the inability to relax a muscle leading to a spontaneous tonic contraction. Both spasticity and spastic dystonia are present in patients who are at rest; however, only patients with spasticity are actually able to kept their muscles relaxed prior to muscle stretch. The idea that has inspired the present work is that also in patients with spastic dystonia the stretch reflex is likely to be hyper-excitable. Therefore, velocity-dependent hypertonia could be mediated not only by spasticity, but also by spastic dystonia. Tonic stretch reflexes in the rectus femoris muscle were evoked in 30 patients with multiple sclerosis showing velocity-dependent hypertonia of leg extensors and the habituation of the reflex was studied. Moreover, the capability of relax the muscle prior to muscle stretch (spastic dystonia) was also investigated. A tonic stretch reflex was evoked in all the enrolled patients. 73% of the patients were able to relax their rectus femoris muscle prior to stretch (spasticity). In the overwhelming majority of these patients, the tonic stretch reflex decreased during repeated stretches. In the remaining 27% of the subjects, the muscle was tonically activated prior to muscle stretch (spastic dystonia). In the patients in whom spastic dystonia progressively increased over the subsequent stretches (50% of the subjects with spastic dystonia), the habituation of the reflex was replaced by a progressive reflex facilitation. This study shows for the first time that velocity-dependent hypertonia can be caused by two distinct phenomena: spasticity and spastic dystonia. The habituation of the tonic stretch reflex, which is a typical feature of spasticity, is replaced by a reflex facilitation in the half of the

  6. Parkinson's Disease Videos

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    Full Text Available ... you can do to maintain and improve your quality of life and live well with Parkinson's disease. Learn More ... a lower risk of complications and have better quality of life. Learn More Research Research We Fund Parkinson's Outcomes ...

  7. Parkinson's Disease Videos

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    Full Text Available ... INFO (473-4636) Español About Us In Your Area Search Donate Español Menu Close Call Our HELPLINE ... More Living with Parkinson's Managing Parkinson's In Your Area Resources & Support PD Library Legal, Financial, & Insurance Matters ...

  8. Falls in Parkinson's disease.

    NARCIS (Netherlands)

    Grimbergen, Y.A.M.; Munneke, M.; Bloem, B.R.

    2004-01-01

    PURPOSE OF REVIEW: To summarize the latest insights into the clinical significance, assessment, pathophysiology and treatment of falls in Parkinson's disease. RECENT FINDINGS: Recent studies have shown that falls are common in Parkinson's disease, even when compared with other fall-prone

  9. Parkinson's Disease Videos

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    Full Text Available ... What Is Parkinson's? Causes & Statistics Early Signs Symptoms Diagnosis Treatment Understanding Parkinson's There is a lot to know ... with Cognitive Impairment? When and What Type of Treatment Is Initiated After Diagnosis? CareMAP: When Is It Time to Get Help? ...

  10. Parkinson's Disease Videos

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    Full Text Available ... our Helpline: 1-800-4PD-INFO (473-4636) © 2018 Parkinson's Foundation Miami: 200 SE 1st Street, Suite ... a Doctor Sign In Privacy & Terms Contact Us © 2018 Parkinson's Foundation Miami: 200 SE 1st Street, Suite ...

  11. Xenotransplantation in Parkinson's disease

    NARCIS (Netherlands)

    Koopmans, Jan

    2006-01-01

    Parkinson's disease is a neurodegenerative disorder characterised by loss of dopaminergic neurones in the substantia nigra pars compacta and subsequent shortage of dopamine in the striatum of the these patients causing the well known symptoms first described by James Parkinson in 1817. In this

  12. Parkinson's Disease Videos

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    Full Text Available ... Following a Medication Schedule? CareMAP: Medications and General Health Part 1 Overview of Parkinson's Disease What Is ... Thinking Changes: Part 2 CareMAP: Medications and General Health Part 2 What Is the Progression of Parkinson's ...

  13. Parkinson's Disease Research at NIH

    Science.gov (United States)

    ... of this page please turn JavaScript on. Feature: Parkinson's Disease Parkinson's Disease Research at NIH Past Issues / Winter 2014 ... areas of its research: MedlinePlus . medlineplus.gov . Type "Parkinson's disease" in the Search box. NIHSeniorHealth —Parkinson's Disease ...

  14. Complex regional pain syndrome with associated chest wall dystonia: a case report

    Directory of Open Access Journals (Sweden)

    Schwartzman Robert J

    2011-09-01

    Full Text Available Abstract Patients with complex regional pain syndrome (CRPS often suffer from an array of associated movement disorders, including dystonia of an affected limb. We present a case of a patient with long standing CRPS after a brachial plexus injury, who after displaying several features of the movement disorder previously, developed painful dystonia of chest wall musculature. Detailed neurologic examination found palpable sustained contractions of the pectoral and intercostal muscles in addition to surface allodynia. Needle electromyography of the intercostal and paraspinal muscles supported the diagnosis of dystonia. In addition, pulmonary function testing showed both restrictive and obstructive features in the absence of a clear cardiopulmonary etiology. Treatment was initiated with intrathecal baclofen and the patient had symptomatic relief and improvement of dystonia. This case illustrates a novel form of the movement disorder associated with CRPS with response to intrathecal baclofen treatment.

  15. Cranial dystonia, blepharospasm and hemifacial spasm: clinical features and treatment, including the use of botulinum toxin.

    Science.gov (United States)

    Kraft, S P; Lang, A E

    1988-01-01

    Blepharospasm, the most frequent feature of cranial dystonia, and hemifacial spasm are two involuntary movement disorders that affect facial muscles. The cause of blepharospasm and other forms of cranial dystonia is not known. Hemifacial spasm is usually due to compression of the seventh cranial nerve at its exit from the brain stem. Cranial dystonia may result in severe disability. Hemifacial spasm tends to be much less disabling but may cause considerable distress and embarrassment. Patients affected with these disorders are often mistakenly considered to have psychiatric problems. Although the two disorders are quite distinct pathophysiologically, therapy with botulinum toxin has proven very effective in both. We review the clinical features, proposed pathophysiologic features, differential diagnosis and treatment, including the use of botulinum toxin, of cranial dystonia and hemifacial spasm. Images Fig. 2 Fig. 3 PMID:3052771

  16. [Questionnaire survey of musician's dystonia among students of a music college].

    Science.gov (United States)

    Konaka, Kuni; Mochizuki, Hideki

    2015-01-01

    Musician's dystonia is known as a task specific dystonia. Though it is thought to occur during a long course of repetitive performance, the actual circumstances that precipitate this condition are not clear. According to factual reports this disease is not commonly known, probably because many of these patients may not have been visiting a hospital. We prepared a questionnaire and did a survey among the students of a music college. This is the first questionnaire survey aimed at finding out the prevalence of musician's dystonia among the students of music. Among the 480 participants of this survey, 29% of the students had knowledge of this disorder and 1.25% of the students had dystonia while performing music.

  17. White matter changes in primary dystonia determined by 2D distribution analysis of diffusion tensor images.

    Science.gov (United States)

    Vo, An; Eidelberg, David; Uluǧ, Aziz M

    2013-01-01

    To determine brain tissue affected by dystonia by making group comparison of parameter-based diffusion tensor imaging (DTI) distributions of patients with control subjects. A 2D distribution analysis of mean diffusivity and fractional anisotropy index was used for modeling brain tissues according to the inherent diffusion characteristics. Seven affected carriers of the DYT1 dystonia mutation and eight healthy control subjects were imaged for a previous study. We employed a 2D distribution analysis of all the diffusion voxels and a four compartmental brain model for group comparison of the dystonia subjects and controls. Our analysis showed disease involvement in the white matter of the patients. Excellent tissue characterization was achieved automatically using the 2D distribution analysis based on a physical brain model. This 2D analysis implicated white matter in dystonia and could be useful as a screening tool in diseases with unknown pathologies. Copyright © 2012 Wiley Periodicals, Inc.

  18. A child with myoclonus-dystonia (DYT11) misdiagnosed as atypical opsoclonus myoclonus syndrome

    DEFF Research Database (Denmark)

    Drivenes, Bergitte; Born, Alfred Peter; Ek, Jakob

    2015-01-01

    INTRODUCTION: DYT11 is an autosomal dominant inherited movement disorder characterized by myoclonus and dystonia. CLINICAL PRESENTATION: We present a case with atypical symptoms and with episodes of ataxia and myoclonus preceded by infections. Atypical presentation of opsoclonus myoclonus syndrome...

  19. Musicians' social representations of health and illness: a qualitative case study about focal dystonia.

    Science.gov (United States)

    Zosso, Amélie; Schoeb, Veronika

    2012-01-01

    Musicians are artists who use the entire body when playing their instruments. Since over-practicing may lead to physical problems, musicians might encounter focal dystonia, a hand's motor disorder. The cause seems to be the brain's confusion between afferent and efferent information transfer provoking a disharmony with the instrument. Although focal dystonia may have serious consequences for a musician's career, it is unclear how musicians perceive this trouble. This case study describes two musicians with focal dystonia. Qualitative research was used to study their social representations of health and illness. The results show the central role of the hand during music playing, the passion for music and the understanding for focal dystonia as "brain panic". Therapists should account for those specific features inherent to this population in order to better help them in their quest for art through music. Giving a voice to musicians may improve their quality of care.

  20. Normalization of sensorimotor integration by repetitive transcranial magnetic stimulation in cervical dystonia

    NARCIS (Netherlands)

    Zittel, S.; Helmich, R.C.G.; Demiralay, C.; Munchau, A.; Baumer, T.

    2015-01-01

    Previous studies indicated that sensorimotor integration and plasticity of the sensorimotor system are impaired in dystonia patients. We investigated motor evoked potential amplitudes and short latency afferent inhibition to examine corticospinal excitability and cortical sensorimotor integration,

  1. Dystonia in neurodegeneration with brain iron accumulation : outcome of bilateral pallidal stimulation

    NARCIS (Netherlands)

    Timmermann, L.; Pauls, K. A. M.; Wieland, K.; Jech, R.; Kurlemann, G.; Sharma, N.; Gill, S. S.; Haenggeli, C. A.; Hayflick, S. J.; Hogarth, P.; Leenders, K. L.; Limousin, P.; Malanga, C. J.; Moro, E.; Ostrem, J. L.; Revilla, F. J.; Santens, P.; Schnitzler, A.; Tisch, S.; Valldeoriola, F.; Vesper, J.; Volkmann, J.; Woitalla, D.; Peker, S.

    Neurodegeneration with brain iron accumulation encompasses a heterogeneous group of rare neurodegenerative disorders that are characterized by iron accumulation in the brain. Severe generalized dystonia is frequently a prominent symptom and can be very disabling, causing gait impairment, difficulty

  2. Botulinum Toxin Treatment of Blepharospasm, Orofacial/Oromandibular Dystonia, and Hemifacial Spasm.

    Science.gov (United States)

    Karp, Barbara Illowsky; Alter, Katharine

    2016-02-01

    Blepharospasm is a focal dystonia characterized by involuntary, repetitive eye closure. Orofacial and oromandibular dystonia describe involuntary dystonic movements of orofacial and oromandibular musculature. Hemifacial spasm is characterized by repetitive synchronous contraction of facial nerve innervated muscles on one side of the face. In this article, the clinical presentation, epidemiology, and approaches to treatment are reviewed. Technical aspects of using botulinum toxin for treatment and reported outcomes are discussed. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  3. Long-Term Clinical Outcome of Internal Globus Pallidus Deep Brain Stimulation for Dystonia.

    Directory of Open Access Journals (Sweden)

    Hye Ran Park

    Full Text Available GPi (Internal globus pallidus DBS (deep brain stimulation is recognized as a safe, reliable, reversible and adjustable treatment in patients with medically refractory dystonia.This report describes the long-term clinical outcome of 36 patients implanted with GPi DBS at the Neurosurgery Department of Seoul National University Hospital.Nine patients with a known genetic cause, 12 patients with acquired dystonia, and 15 patients with isolated dystonia without a known genetic cause were included. When categorized by phenomenology, 29 patients had generalized, 5 patients had segmental, and 2 patients had multifocal dystonia. Patients were assessed preoperatively and at defined follow-up examinations postoperatively, using the Burke-Fahn-Marsden dystonia rating scale (BFMDRS for movement and functional disability assessment. The mean follow-up duration was 47 months (range, 12-84.The mean movement scores significantly decreased from 44.88 points preoperatively to 26.45 points at 60-month follow up (N = 19, P = 0.006. The mean disability score was also decreased over time, from 11.54 points preoperatively to 8.26 points at 60-month follow up, despite no statistical significance (N = 19, P = 0.073. When analyzed the movement and disability improvement rates at 12-month follow up point, no significant difference was noted according to etiology, disease duration, age at surgery, age of onset, and phenomenology. However, the patients with DYT-1 dystonia and isolated dystonia without a known genetic cause showed marked improvement.GPi DBS is a safe and efficient therapeutic method for treatment of dystonia patients to improve both movement and disability. However, this study has some limitations caused by the retrospective design with small sample size in a single-center.

  4. Dystonia with Brain Manganese Accumulation Resulting From SLC30A10 Mutations: A New Treatable Disorder

    OpenAIRE

    Stamelou, Maria; Tuschl, Karin; Chong, W.K.; Andrew K. Burroughs; Mills, Philippa B.; Bhatia, Kailash P.; Clayton, Peter T.

    2012-01-01

    Background The first gene causing early-onset generalized dystonia with brain manganese accumulation has recently been identified. Mutations in the SLC30A10 gene, encoding a manganese transporter, cause a syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia. Methods We present 10-year longitudinal clinical features, MRI data, and treatment response to chelation therapy of the originally described patient with a proven homozygous mutation in SLC30A10. Results The patien...

  5. Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy

    OpenAIRE

    Renzo Guerrini; Federico Melani; Claudia Brancati; Anna Rita Ferrari; Paola Brovedani; Annibale Biggeri; Laura Grisotto; Simona Pellacani

    2015-01-01

    Background Absence epilepsy (AE) is etiologically heterogeneous and has at times been associated with idiopathic dystonia. Objectives Based on the clinical observation that children with AE often exhibit, interictally, a disorder resembling writer?s cramp but fully definable as dysgraphia, we tested the hypothesis that in this particular population dysgraphia would represent a subtle expression of dystonia. Methods We ascertained the prevalence of dysgraphia in 82 children with AE (mean age 9...

  6. Cerebellar Intermittent Theta-Burst Stimulation and Motor Control Training in Individuals with Cervical Dystonia.

    Science.gov (United States)

    Bradnam, Lynley V; McDonnell, Michelle N; Ridding, Michael C

    2016-11-23

    There is emerging evidence that cervical dystonia is a neural network disorder with the cerebellum as a key node. The cerebellum may provide a target for neuromodulation as a therapeutic intervention in cervical dystonia. This study aimed to assess effects of intermittent theta-burst stimulation of the cerebellum on dystonia symptoms, quality of life, hand motor dexterity and cortical neurophysiology using transcranial magnetic stimulation. Sixteen participants with cervical dystonia were randomised into real or sham stimulation groups. Cerebellar neuromodulation was combined with motor training for the neck and an implicit learning task. The intervention was delivered over 10 working days. Outcome measures included dystonia severity and pain, quality of life, hand dexterity, and motor-evoked potentials and cortical silent periods recorded from upper trapezius muscles. Assessments were taken at baseline and after 5 and 10 days, with quality of life also measured 4 and 12 weeks later. Intermittent theta-burst stimulation improved dystonia severity (Day 5, -5.44 points; p = 0.012; Day 10, -4.6 points; p = 0.025), however, effect sizes were small. Quality of life also improved (Day 5, -10.6 points, p = 0.012; Day 10, -8.6 points, p = 0.036; Week 4, -12.5 points, p = 0.036; Week 12, -12.4 points, p = 0.025), with medium or large effect sizes. There was a reduction in time to complete the pegboard task pre to post intervention (both p < 0.008). Cortical neurophysiology was unchanged by cerebellar neuromodulation. Intermittent theta-burst stimulation of the cerebellum may improve cervical dystonia symptoms, upper limb motor control and quality of life. The mechanism likely involves promoting neuroplasticity in the cerebellum although the neurophysiology remains to be elucidated. Cerebellar neuromodulation may have potential as a novel treatment intervention for cervical dystonia, although larger confirmatory studies are required.

  7. Motor assessment in Parkinson`s disease

    Directory of Open Access Journals (Sweden)

    Józef Opara

    2017-09-01

    Full Text Available Parkinson’s disease (PD is one of most disabling disorders of the central nervous system. The motor symptoms of Parkinson’s disease: shaking, rigidity, slowness of movement, postural instability and difficulty with walking and gait, are difficult to measure. When disease symptoms become more pronounced, the patient experiences difficulties with hand function and walking, and is prone to falls. Baseline motor impairment and cognitive impairment are probable predictors of more rapid motor decline and disability. An additional difficulty is the variability of the symptoms caused by adverse effects of drugs, especially levodopa. Motor assessment of Parkinson`s Disease can be divided into clinimetrics, assessment of balance and posture, arm and hand function, and gait/walking. These are many clinimetric scales used in Parkinson`s Disease, the most popular being the Hoehn and Yahr stages of progression of the disease and Unified Parkinson’s Disease Rating Scale. Balance and posture can be assessed by clinimetric scales like the Berg BS, Tinetti, Brunel BA, and Timed Up and Go Test, or measured by posturometric platforms. Among skill tests, the best known are: the Purdue Pegboard Test, Nine-Hole Peg Test, Jebsen and Taylor test, Pig- Tail Test, Frenchay Arm Test, Action Research Arm Test, Wolf FMT and Finger-Tapping Test. Among motricity scales, the most popular are: the Fugl-Meyer Motor Assessment Scale and Södring Motor Evaluation. Gait and walking can also be assessed quantitatively and qualitatively. Recently, the most popular is three-dimensional analysis of movement. This review article presents the current possibilities of motor assessment in Parkinson`s disease.

  8. Microstructural white matter changes in primary torsion dystonia.

    Science.gov (United States)

    Carbon, Maren; Kingsley, Peter B; Tang, Chengke; Bressman, Susan; Eidelberg, David

    2008-01-30

    Primary torsion dystonia (PTD) has been conceptualized as a disorder of the basal ganglia. However, recent data suggest a widespread pathology involving motor control pathways. In this report, we explored whether PTD is associated with abnormal anatomical connectivity within motor control pathways. We used diffusion tensor magnetic resonance imaging (DT-MRI) to assess the microstructure of white matter. We found that fractional anisotropy, a measure of axonal integrity and coherence, was significantly reduced in PTD patients in the pontine brainstem in the vicinity of the left superior cerebellar peduncle and bilaterally in the white matter of the sensorimotor region. Our data thus support the possibility of a disturbance in cerebello-thalamo-cortical pathways as a cause of the clinical manifestations of PTD. 2007 Movement Disorder Society

  9. Children With and Without Dystonia Share Common Muscle Synergies While Performing Writing Tasks.

    Science.gov (United States)

    Lunardini, Francesca; Casellato, Claudia; Bertucco, Matteo; Sanger, Terence D; Pedrocchi, Alessandra

    2017-08-01

    Childhood dystonia is a movement disorder characterized by muscle overflow and variability. This is the first study that investigates upper limb muscle synergies in childhood dystonia with the twofold aim of deepening the understanding of neuromotor dysfunctions and paving the way to possible synergy-based myocontrol interfaces suitable for this neurological population. Nonnegative matrix factorization was applied to the activity of upper-limb muscles recorded during the execution of writing tasks in children with dystonia and age-matched controls. Despite children with dystonia presented compromised kinematics of the writing outcome, a strikingly similarity emerged in the number and structure of the synergy vectors extracted from children in the two groups. The analysis also revealed that the timing of activation of the synergy coefficients did not significantly differ, while the amplitude of the peaks presented a slight reduction. These results suggest that the synergy analysis has the ability of capturing the uncorrupted part of the electromyographic signal in dystonia. Such an ability supports a possible future use of muscle synergies in the design of myocontrol interfaces for children with dystonia.

  10. Causes for treatment delays in dystonia and hemifacial spasm: a Canadian survey.

    Science.gov (United States)

    Jog, Mandar; Chouinard, Sylvain; Hobson, Doug; Grimes, David; Chen, Robert; Bhogal, Meetu; Simonyi, Susan

    2011-09-01

    Dystonia must be accurately diagnosed so that treatment can be administered promptly. However, dystonia is a complex disorder, with variable presentation, which can delay diagnosis. Data were gathered by questionnaire from 866 patients with dystonia or hemifacial spasm (HFS) treated in 14 movement disorders centres in Canada injecting botulinum toxin, to better understand the path to diagnosis, wait times and obstacles to treatment. Most participants were female (64.1%), mean age was 58 years, and patients consulted an average of 3.2 physicians before receiving a dystonia or HFS diagnosis. Many patients (34%) received other diagnoses before referral to a movement disorders clinic, most commonly "stress" (42.7%). A variety of treatments were often received without a diagnosis. The mean lag time between symptom onset and diagnosis was 5.4 years. After the decision to use botulinum toxin, patients waited a mean of 3.1 months before treatment. The most common diagnoses were cervical dystonia (51.6% of patients), HFS (20.0%) and blepharospasm (9.8%). Survey results show that diagnosis of dystonias or of HFS, and therefore, access to treatment, is delayed. An educational program for primary care physicians may be helpful to decrease the time to diagnosis and referral to a specialist centre for treatment.

  11. Deep brain stimulation for childhood dystonia: Is 'where' as important as in 'whom'?

    Science.gov (United States)

    Lumsden, Daniel E; Kaminska, Margaret; Ashkan, Keyoumars; Selway, Richard; Lin, Jean-Pierre

    2017-01-01

    Deep brain stimulation (DBS) has become a mainstay of dystonia management in adulthood. Typically targeting electrode placement in the GPi, sustained improvement in dystonic symptoms are anticipated in adults with isolated genetic dystonias. Dystonia in childhood is more commonly a symptomatic condition, with dystonia frequently expressed on the background of a structurally abnormal brain. Outcomes following DBS in this setting are much more variable, the reasons for which have yet to be elucidated. Much of the focus on improving outcomes following DBS in dystonia management has been on the importance of patient selection, with, until recently, little discussion of the choice of target. In this review, we advance the argument that patient selection for DBS in childhood cannot be made separate from the choice of target nuclei. The anatomy of common DBS targets is considered, and factors influencing their choice for electrode insertion are discussed. We propose an "ABC" for DBS in childhood dystonia is proposed: Appropriate Child selected; Best nuclei chosen for electrode insertion; Correct position within that nucleus. Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  12. EFFECT OF ELECTRICAL MUSCLE STIMULATION WITH SENSIROMOTOR TRAINING IN FOCAL HAND DYSTONIA - A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Shefali Gambhir

    2015-02-01

    Full Text Available Background: Focal hand Dystonia is shown by involuntary muscle contractions in the arm or hand while writing with a disordered neuroplastic changes in the brain. Symptoms can include lack of co-ordination, cramping and tremor and tend to be specific for each individual. So, the present study evaluates the effect of an integrated approach that is employed to improve functional independence in a patient suffering from focal hand dystonia. Case Description: The benefits of sensorimotor task specific training along with electrical muscle stimulation in the rehabilitation of focal hand dystonia is reported in this study. The treatment protocol is planned according to the problem list of the patient and an intervention of 20 days (1 hour per day, 5 days per week for 4 weeks is given to the patient. Outcome Variables: Prognosis is observed in Burke-Fahn-Marsden scale, global dystonia scale, Jedynak’s protocol and unified dystonia rating scale before & after the intervention. A Depression anxiety stress scale is also used to assess the psychological status of the patient. Conclusion: Considerable improvement is seen in writing and fine motor skills after the rehabilitation. It is observed that the electrical muscle stimulation in conjunction with sensiromostor task specific training induces excitability in the muscles and improve the clinical function in patient with focal hand dystonia.

  13. Dystonia and tremor following exposure to 2,3,7,8-tetrachlorodibenzo-p-dioxin

    Energy Technology Data Exchange (ETDEWEB)

    Klawans, H.L.

    1987-01-01

    Forty-seven railroad workers who were exposed to polychlorinated phenols, including dioxin (TCDD), during 1979 while cleaning up the chemical spillage following damage to a tank car filled with these chemicals were followed medically for the subsequent 6 years. Two committed suicide. The initial neurological complaints included a sense of fatigue and muscle aching, both of which have been reported in other individuals following dioxin exposure. On detailed neurological examination in December, 1985, 24 of 45 had dystonic writer's cramp and/or other action dystonias of the hands. None of the involved individuals had a family history of dystonia, and all 24 dated the onset of the dystonia to the first 2 to 3 years subsequent to their toxic exposure. The dystonias varied in severity but were usually mild. No other types of dystonic involvement were recognized. Thirty-five of the 45 individuals also manifested postural and terminal intention tremor which resembled benign essential tremor. None of the involved individuals had a family history of tremor, and all 35 of those affected dated the onset of the tremor to some time subsequent to their toxic exposure. Forty-three of 45 patients had histories and findings suggestive of peripheral neuropathy. This is the first report relating any type of dystonia to prior dioxin exposure and the first report relating action dystonia, such as dystonic writer's cramp, and postural/terminal intention tremor, to toxic exposure of any type.

  14. Current Opinions and Areas of Consensus on the Role of the Cerebellum in Dystonia.

    Science.gov (United States)

    Shakkottai, Vikram G; Batla, Amit; Bhatia, Kailash; Dauer, William T; Dresel, Christian; Niethammer, Martin; Eidelberg, David; Raike, Robert S; Smith, Yoland; Jinnah, H A; Hess, Ellen J; Meunier, Sabine; Hallett, Mark; Fremont, Rachel; Khodakhah, Kamran; LeDoux, Mark S; Popa, Traian; Gallea, Cécile; Lehericy, Stéphane; Bostan, Andreea C; Strick, Peter L

    2017-04-01

    A role for the cerebellum in causing ataxia, a disorder characterized by uncoordinated movement, is widely accepted. Recent work has suggested that alterations in activity, connectivity, and structure of the cerebellum are also associated with dystonia, a neurological disorder characterized by abnormal and sustained muscle contractions often leading to abnormal maintained postures. In this manuscript, the authors discuss their views on how the cerebellum may play a role in dystonia. The following topics are discussed: The relationships between neuronal/network dysfunctions and motor abnormalities in rodent models of dystonia. Data about brain structure, cerebellar metabolism, cerebellar connections, and noninvasive cerebellar stimulation that support (or not) a role for the cerebellum in human dystonia. Connections between the cerebellum and motor cortical and sub-cortical structures that could support a role for the cerebellum in dystonia. Overall points of consensus include: Neuronal dysfunction originating in the cerebellum can drive dystonic movements in rodent model systems. Imaging and neurophysiological studies in humans suggest that the cerebellum plays a role in the pathophysiology of dystonia, but do not provide conclusive evidence that the cerebellum is the primary or sole neuroanatomical site of origin.

  15. Botulinum Toxin Therapy for Cervical Dystonia: The Science of Dosing

    Directory of Open Access Journals (Sweden)

    Virgilio Gerald H. Evidente

    2014-11-01

    Full Text Available The first‐line treatment for cervical dystonia (CD is botulinum toxin type A (BoNT‐A, which has been established as a highly effective and well‐tolerated therapy. However, this treatment is also complex and challenging to apply in clinical practice. Approximately 20% of patients discontinue therapy due to treatment failure, adverse effects, and other reasons. In addition, expert consensus recommendations are lacking to guide physicians in the optimal use of BoNT‐A for CD. Among the issues still to be clarified is the optimal dosing frequency. The generally accepted standard for intervals between BoNT‐A injections is ≥12 weeks; however, this standard is based primarily on the methodology of pivotal trials for the BoNT‐A products, rather than on evidence that it is optimal in comparison to other intervals. While some retrospective, observational studies of BoNT‐A used in clinical practice appear to support the use of ≥12‐week dosing intervals, it is often unclear in these studies how the need for reinjection was determined. In contrast, a prospective dose‐ranging trial in which patients were allowed to request reinjection as early as 8 weeks showed that about half of patients receiving abobotulinumtoxinA, at the currently recommended initial dose of 500 U, requested reinjection at 8 weeks. Moreover, results from an open‐label, 68‐week extension phase of the pivotal trial of incobotulinumtoxinA showed that 47.1% of patients had received reinjection at ≤12 weeks. Ongoing studies, such as the Cervical Dystonia Patient Registry for Observation of BOTOX® Efficacy (CD PROBE, may help clarify this question of optimal dosing intervals for BoNT‐A in CD.

  16. Hereditary Parkinson s Disease Natural History Protocol

    Science.gov (United States)

    2017-10-18

    Parkinson Disease 6, Early-Onset; Parkinson Disease (Autosomal Recessive, Early Onset) 7, Human; Parkinson Disease Autosomal Recessive, Early Onset; Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/Dj1

  17. Action tremor in Parkinson's disease: frequency and relationship to motor and non-motor signs.

    Science.gov (United States)

    Gigante, A F; Bruno, G; Iliceto, G; Guido, M; Liuzzi, D; Mancino, P V; De Caro, M F; Livrea, P; Defazio, G

    2015-02-01

    Action tremor may occur in patients with Parkinson's disease and cause misdiagnosis with other movement disorders such as essential tremor and dystonia. Data on the frequency of action tremor in Parkinson's disease and on the relationships with other motor and non-motor signs are limited. A cross-sectional study of 237 patients with Parkinson's disease staging 1-2 on the Hoehn-Yahr scale was conducted. Data on action tremor and other motor and non-motor signs were collected using the Unified Parkinson's Disease Rating Scale part III and the Non-Motor Symptoms Scale. Action tremor was found in 46% of patients and was associated with both severity of rest tremor (adjusted odds ratio 3.0, P Hoehn-Yahr scale. Action tremor correlates with rest tremor and rigidity and may be associated with a lower burden of non-motor symptoms. These findings suggest a contribution of non-dopaminergic mechanisms to action tremor pathophysiology. © 2014 EAN.

  18. Relationship between intracellular Na+ concentration and reduced Na+ affinity in Na+,K+-ATPase mutants causing neurological disease

    DEFF Research Database (Denmark)

    Toustrup-Jensen, Mads Schak; Einholm, Anja P.; Schack, Vivien

    2014-01-01

    The neurological disorders familial hemiplegic migraine type 2 (FHM2), alternating hemiplegia of childhood (AHC), and rapid-onset dystonia parkinsonism (RDP) are caused by mutations of Na+,K+-ATPase α2- and α3-isoforms, expressed in glial and neuronal cells, respectively. Although these disorders...... mutations that increase Na+ affinity were found to reduce [Na+]i. It is concluded that the Na+ affinity of the Na+,K+-ATPase is an important determinant of [Na+]i....

  19. Ambulation and Parkinson disease.

    Science.gov (United States)

    Amano, Shinichi; Roemmich, Ryan T; Skinner, Jared W; Hass, Chris J

    2013-05-01

    Parkinson disease is a progressive neurodegenerative disorder characterized by a variety of motor and nonmotor features. This article reviews the problems of postural instability and gait disturbance in persons with Parkinson disease through the discussion of (1) the neuropathology of parkinsonian motor deficits, (2) behavioral manifestations of gait and postural abnormalities observed in persons with Parkinson disease, and (3) pharmacologic, surgical, and physical therapy-based interventions to combat postural instability and gait disturbance. This article advances the treatment of postural instability and gait disturbance by condensing up-to-date knowledge and making it available to clinicians and rehabilitation professionals. Copyright © 2013 Elsevier Inc. All rights reserved.

  20. Parkinson's Disease Videos

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    Full Text Available ... who seek skilled care are at a lower risk of complications and have better quality of life. Learn More Research Research We Fund Parkinson's Outcomes Project Grant Opportunities Science News & Progress Patient Engagement Research ...

  1. Parkinson's Disease Videos

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    Full Text Available ... Progression of the Disease? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis What Are Some Strategies for Problems with Urination? CareMAP: Changes Around the House: Part 1 CareMAP: Cambios para ...

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    Full Text Available ... are here Home PD Library Search library Topic Type Nurse Webinars: Interdisciplinary Education on Parkinson's Disease Expert ... Subscribe to get the latest news on treatments, research and other updates. Email Address Sign Up Questions? ...

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    Full Text Available ... Donna’s Story Aware in Care: Real Stories Is Depression Under-Diagnosed in Patients with Parkinson's Disease? What Are the Neuroprotective Benefits of Exercise for PD Patients? Are There Any Ways to ...

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    Full Text Available ... Press Room Ask a Doctor Sign In Privacy & Terms Contact Us Connect With Us: Press Room Ask a Doctor Sign In Privacy & Terms Contact Us © 2017 Parkinson's Foundation Miami: 200 SE ...

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    Full Text Available ... you can do to maintain and improve your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers of Excellence Bringing Care ...

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    Full Text Available ... Travel with PD Expert Briefings: Sleep and Parkinson's Nursing Solutions: Recognizing the Impact of Genitourinary Symptoms in ... Runny Noses, Skin Changes and Overlooked PD Symptoms Nursing Solutions: PD Medication Adherence Challenges Jose Maria Lobo ...

  7. Learning about Parkinson's Disease

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    Skip to main content Learning About Parkinson's Disease Enter Search Term(s): Español Research Funding An Overview Bioinformatics Current Grants Education and Training Funding Extramural Research News Features Funding Divisions ...

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    Full Text Available ... are at a lower risk of complications and have better quality of life. Learn More Research Research ... Causes of Parkinson's Disease? Are There Disorders That Have Similar Symptoms? What Medications Help with Cognitive Impairment? ...

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    Full Text Available ... Research We Fund Parkinson's Outcomes Project Grant Opportunities Science News & Progress Patient Engagement Research Our research has ... raise funds and awareness for the 1 million Americans living with Parkinson’s disease. Learn more Ways to ...

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    Full Text Available ... We Fund Parkinson's Outcomes Project Grant Opportunities Science News & Progress Patient Engagement Research Our research has led ... Deep Brain Stimulation Subscribe to get the latest news on treatments, research and other updates. Email Address ...

  11. Parkinson's Disease Videos

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    Full Text Available ... know about Parkinson's disease. Learn about symptoms, how it is diagnosed and what treatment options are available. ... your gift takes, you can be confident that it goes toward providing crucial resources for those affected ...

  12. Parkinson's Disease Videos

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    Full Text Available ... org Press Room Ask a Doctor Sign In Privacy & Terms Contact Us Connect With Us: Press Room Ask a Doctor Sign In Privacy & Terms Contact Us © 2018 Parkinson's Foundation Miami: 200 ...

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    Full Text Available ... Bringing Care to You Expert Care Programs Professional Education Expert Care Research shows people with Parkinson’s who ... Psychosis: Hallucinations, Delusions and Paranoia Nurse Webinars: Interdisciplinary Education on Parkinson's Disease Expert Briefings: Getting Around: Transportation ...

  14. Parkinson's Disease Videos

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    Full Text Available ... here Home PD Library Search library Topic Type Nurse Webinars: Interdisciplinary Education on Parkinson's Disease Expert Briefings: ... Disease: Financial, Legal and Medical Planning Tips for Care Partners Help is just a click away. The ...

  15. Parkinson's Disease Videos

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    Full Text Available ... You are here Home PD Library Search library Topic Type Nurse Webinars: Interdisciplinary Education on Parkinson's Disease ... Subscribe to get the latest news on treatments, research and other updates. Email Address Sign Up Questions? ...

  16. Parkinson's Disease Videos

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    Full Text Available ... Work? How Is Parkinson's Disease Diagnosed? Is Compulsive Behavior a Side Effect of PD Medications? Is Depression ... What Do I Do if I Suspect Compulsive Behavior in a Loved One with PD? What Does ...

  17. Insecticide Exposure in Parkinsonism

    National Research Council Canada - National Science Library

    Bloomquist, Jeffrey

    2003-01-01

    Behavioral, neurochemical, and immunocytochemical studies are characterizing the possible role of insecticide exposure in the etiology of Parkinson's disease as it may relate to Gulf War Syndrome. Chlorpyrifos (CP) and/or permethrin (PM...

  18. Insecticide Exposure in Parkinsonism

    National Research Council Canada - National Science Library

    Bloomquist, Jeffrey

    2001-01-01

    Behavioral, neurochemical, and immunocytochemical studies characterized the possible role of insecticide exposure in the etiology of Parkinson's disease as it may relate to Gulf War Syndrome. Chlorpyrifos (CP) and permethrin (PM...

  19. Insecticide Exposure in Parkinsonism

    National Research Council Canada - National Science Library

    Bloomquist, Jeffrey

    2002-01-01

    Behavioral, neurochemical, and immunocytochemical studies characterized the possible role of insecticide exposure in the etiology of Parkinson's disease as it may relate to Gulf War Syndrome. Chlorpyrifos (CP) and permethrin (PM...

  20. Parkinson's Disease Videos

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    Full Text Available ... you can do to maintain and improve your quality of life and live well with Parkinson's disease. ... a lower risk of complications and have better quality of life. Learn More Research Research We Fund ...

  1. Parkinson's Disease Videos

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    Full Text Available ... Shop A A You are here Home Search library Topic Type 2013 PSA Featuring Katie Couric Adolfo ... Managing Depression, Anxiety & Psychosis OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis OHSU - Therapeutic Approaches for ...

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    Full Text Available ... Shop A A You are here Home PD Library Search library Topic Type Nurse Webinars: Interdisciplinary Education on Parkinson's ... Help is just a click away. The PD Library is an extensive collection of books, fact sheets, ...

  3. Genetics of Parkinson's disease

    National Research Council Canada - National Science Library

    Klein, Christine; Westenberger, Ana

    2012-01-01

    Fifteen years of genetic research in Parkinson's disease (PD) have led to the identification of several monogenic forms of the disorder and of numerous genetic risk factors increasing the risk to develop PD...

  4. Parkinson's Disease Videos

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    Full Text Available ... Bringing Care to You Expert Care Programs Professional Education Expert Care Research shows people with Parkinson’s who ... Library Search library Topic Type Nurse Webinars: Interdisciplinary Education on Parkinson's Disease Expert Briefings: Getting Around: Transportation ...

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    Full Text Available ... Research We Fund Parkinson's Outcomes Project Grant Opportunities Science News & Progress Patient Engagement Research Our research has ... How Does Depression Affect the Patient's Family and Social Network? Caregiver Summit 2016: Embracing The Challenge: A ...

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    Full Text Available ... Shop A A You are here Home PD Library Search library Topic Type Expert Briefings: Parkinson's Disease Psychosis: Hallucinations, ... Help is just a click away. The PD Library is an extensive collection of books, fact sheets, ...

  7. Pain in Parkinson's Disease

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    ... it is working well. Botulinum injections ( Botox The brand name for botulinum toxin A, a neurotoxin that ... help - more than ever - in helping us raise awareness to beat Parkinson's disease and ensuring a better ...

  8. Parkinson's Disease Videos

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    Full Text Available ... with PD Expert Briefings: Sleep and Parkinson's Nursing Solutions: Recognizing the Impact of Genitourinary Symptoms in PD ... Noses, Skin Changes and Overlooked PD Symptoms Nursing Solutions: PD Medication Adherence Challenges Jose Maria Lobo y ...

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    Full Text Available ... You Expert Care Programs Professional Education Expert Care Research shows people with Parkinson’s who seek skilled care ... and have better quality of life. Learn More Research Research We Fund Parkinson's Outcomes Project Grant Opportunities ...

  11. Somatization in Parkinson's Disease

    DEFF Research Database (Denmark)

    Carrozzino, Danilo; Bech, Per; Patierno, Chiara

    2017-01-01

    The current systematic review study is aimed at critically analyzing from a clinimetric viewpoint the clinical consequence of somatization in Parkinson's Disease (PD). By focusing on the International Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines, we...... consequence of such psychiatric symptom should be further evaluated by replacing the clinically inadequate diagnostic label of psychogenic parkinsonism with the psychosomatic concept of persistent somatization as conceived by the Diagnostic Criteria for Psychosomatic Research (DCPR)....

  12. Recognising the common origins of dystonia and the development of human movement: A manifesto of unmet needs in isolated childhood dystonias

    Directory of Open Access Journals (Sweden)

    Jean-Pierre Lin

    2016-12-01

    Full Text Available Dystonia in childhood may be severely disabling and often un-remitting and un-recognised. Considered a rare disorder, dystonic symptoms in childhood are pervasive in many conditions including disorders of developmental delay, cerebral palsy, autism, neurometabolic, neuroinflammatory and neurogenetic disorders. Collectively, there is a need to recognise the role of early postures and movements which characterise phases of normal fetal, infant and child development as a backdrop to the many facets of dystonia in early childhood neurological disorders and to be aware of the developmental context of dystonic symptoms. The role of co-contraction is explored throughout infancy, childhood, young adulthood and in the elderly. Under-recognition of pervasive dystonic disorders of childhood, including within cerebral palsy is reviewed. Original descriptions of cerebral palsy by William Gowers are reviewed and contemporary physiological demonstrations are used to illustrate support for an interpretation of the tonic labyrinthine response as a manifestation of dystonia. Early recognition and molecular diagnosis of childhood dystonia where possible is desirable for appropriate clinical stratification and future precision medicine and functional neurosurgery where appropriate.

  13. Use of Alleviating Maneuvers for Periocular Facial Dystonias.

    Science.gov (United States)

    Kilduff, Caroline L S; Casswell, Edward J; Salam, Tahrina; Hersh, Dov; Ortiz-Perez, Santiago; Ezra, Daniel

    2016-11-01

    Patients with benign essential blepharospasm or hemifacial spasm are known to use botulinum toxin injections and alleviating maneuvers to help control their symptoms. The clinical correlates between the use of botulinum toxin injections and the use of alleviating maneuvers are not well established. To determine whether the use of alleviating maneuvers for benign essential blepharospasm or hemifacial spasm correlates with disease severity or botulinum toxin treatment. A prospective cross-sectional observational study (designed in September 2013) of 74 patients with benign essential blepharospasm and 56 patients with hemifacial spasm who were consecutively recruited from adnexal clinics at Moorfields Eye Hospital (January-June 2014) to complete a questionnaire and undergo a clinical review. Data analysis was performed in December 2015. Prevalence and type of alleviating maneuvers used for blepharospasm and hemifacial spasm, dystonia severity, and dose and frequency of botulinum toxin injections. Of the 74 patients with blepharospasm, 39 (52.7%) used alleviating maneuvers (mean [SD] age, 70.4 [9.1] years); of the 56 patients with hemifacial spasm, 25 (44.6%) used alleviating maneuvers (mean [SD] age, 66.5 [12.7] years). The most commonly used maneuver was the touching of facial areas (35 of 64 patients [54.7%]); other maneuvers included covering the eyes (6 of 64 patients [9.4%]), singing (5 of 64 patients [7.8%]), and yawning (5 of 64 patients [7.8%]). Patients with blepharospasm who used alleviating maneuvers scored higher on the Jankovic Rating Scale (median score, 5 vs 4; Hodges-Lehmann median difference, 1 [95% CI, 0-2]; P = .01) and the Blepharospasm Disability Index severity score (median score, 11 vs 4; Hodges-Lehmann median difference, 4 [95% CI, 1-7]; P = .01) than patients with blepharospasm who did not use alleviating maneuvers. Patients with hemifacial spasm who used alleviating maneuvers scored higher on the 7-item Hemifacial Spasm Quality of

  14. Oxidative Damage in Parkinson's Disease

    National Research Council Canada - National Science Library

    Beal, M

    2001-01-01

    The objective of the present research is to determine whether there is a coherent body of evidence implicating oxidative damage in the pathogenesis of Parkinson's Disease and the MPTP model of Parkinsonism...

  15. Postural deformities in Parkinson's disease

    NARCIS (Netherlands)

    Doherty, K.M.; Warrenburg, B.P.C. van de; Peralta, M.C.; Silveira-Moriyama, L.; Azulay, J.P.; Gershanik, O.S.; Bloem, B.R.

    2011-01-01

    Postural deformities are frequent and disabling complications of Parkinson's disease (PD) and atypical parkinsonism. These deformities include camptocormia, antecollis, Pisa syndrome, and scoliosis. Recognition of specific postural syndromes might have differential diagnostic value in patients

  16. Parkinson's Disease: The Newest Advances

    Science.gov (United States)

    Skip Navigation Bar Home Current Issue Past Issues Parkinson's Disease: The Newest Advances Past Issues / Summer 2006 ... Landis What are the risk factors for developing Parkinson's? The clearest risk factor is age. In addition, ...

  17. Parkinson's Disease: Hope through Research

    Science.gov (United States)

    ... Home » Disorders » Patient & Caregiver Education » Hope Through Research Parkinson's Disease: Hope Through Research Download publication What is ... and Yahr scale. Hoehn and Yahr Staging of Parkinson's Disease Stage one -- symptoms on one side of ...

  18. Diet and Nutrition (Parkinson's Disease)

    Science.gov (United States)

    ... Living With Parkinson's › Managing Parkinson's › Diet & Nutrition Diet & Nutrition 1. Maintain Health 2. Ease PD Symptoms 3. ... your team Seek reliable information about diet and nutrition from your medical team and local resources. Please ...

  19. The Mechanisms of Movement Control and Time Estimation in Cervical Dystonia Patients

    Directory of Open Access Journals (Sweden)

    Pavel Filip

    2013-01-01

    Full Text Available Traditionally, the pathophysiology of cervical dystonia has been regarded mainly in relation to neurochemical abnormities in the basal ganglia. Recently, however, substantial evidence has emerged for cerebellar involvement. While the absence of neurological “cerebellar signs” in most dystonia patients may be considered at least provoking, there are more subtle indications of cerebellar dysfunction in complex, demanding tasks. Specifically, given the role of the cerebellum in the neural representation of time, in the millisecond range, dysfunction to this structure is considered to be of greater importance than dysfunction of the basal ganglia. In the current study, we investigated the performance of cervical dystonia patients on a computer task known to engage the cerebellum, namely, the interception of a moving target with changing parameters (speed, acceleration, and angle with a simple response (pushing a button. The cervical dystonia patients achieved significantly worse results than a sample of healthy controls. Our results suggest that the cervical dystonia patients are impaired at integrating incoming visual information with motor responses during the prediction of upcoming actions, an impairment we interpret as evidence of cerebellar dysfunction.

  20. Focal hand dystonia in musicians: phenomenology, etiology, and psychological trigger factors.

    Science.gov (United States)

    Altenmüller, Eckart; Jabusch, Hans-Christian

    2009-01-01

    NARRATIVE REVIEW: Musician's dystonia is a task-specific movement disorder, which manifests itself as a loss of voluntary motor control in extensively trained movements. In many cases, the disorder terminates the careers of affected musicians. Approximately 1% of all professional musicians are affected. In the past, focal dystonia (FD) was classified as a psychological disorder. Over time, the problem was classified as a neurological problem. Although the specific pathophysiology of the disorder is still unclear, it appears the etiology is multifactorial. While there may be a family history, neurophysiological, physical, and environmental factors, trauma and stress contribute to the phenotypic development of FD. This manuscript analyzes the evidence supporting the potential contribution of the emotional brain systems in the etiology of focal hand dystonia in musicians. In addition, the psychological findings from a large descriptive study comparing healthy musicians, musicians with dystonia, and musicians with chronic pain. Information about psychogenic characteristics might be used to modify intervention strategies and music instruction to reduce the incidence of musician's dystonia.

  1. Pallidal stimulation in children: comparison between cerebral palsy and DYT1 dystonia.

    Science.gov (United States)

    Marks, Warren; Bailey, Laurie; Reed, Maryann; Pomykal, Angela; Mercer, Mary; Macomber, David; Acosta, Fernando; Honeycutt, John

    2013-07-01

    The authors compared the outcomes of 17 children aged 7 to 15 years with DYT1 dystonia or cerebral palsy following deep brain stimulation. While patients with cerebral palsy presented with significantly greater motor disability than the DYT1 cohort at baseline, both groups demonstrated improvement at 1 year (cerebral palsy = 24%; DYT1 = 6%). The group as a whole demonstrated significant improvement on the Barry-Albright Dystonia Scale across time. Gains in motor function were apparent in both axial and appendicular distributions involving both upper and lower extremities. Gains achieved by 6 months were sustained in the cerebral palsy group, whereas the DYT1 group demonstrated continued improvement with ongoing pallidal stimulation beyond 18 months. Young patients with dystonia due to cerebral palsy responded comparably to patients with DYT1 dystonia. The severity of motor impairment in patients with cerebral palsy at baseline and follow-up raises the issue of even earlier intervention with neuromodulation in this population to limit long-term motor impairments due to dystonia.

  2. Evidence for altered basal ganglia-brainstem connections in cervical dystonia.

    Directory of Open Access Journals (Sweden)

    Anne J Blood

    Full Text Available There has been increasing interest in the interaction of the basal ganglia with the cerebellum and the brainstem in motor control and movement disorders. In addition, it has been suggested that these subcortical connections with the basal ganglia may help to coordinate a network of regions involved in mediating posture and stabilization. While studies in animal models support a role for this circuitry in the pathophysiology of the movement disorder dystonia, thus far, there is only indirect evidence for this in humans with dystonia.In the current study we investigated probabilistic diffusion tractography in DYT1-negative patients with cervical dystonia and matched healthy control subjects, with the goal of showing that patients exhibit altered microstructure in the connectivity between the pallidum and brainstem. The brainstem regions investigated included nuclei that are known to exhibit strong connections with the cerebellum. We observed large clusters of tractography differences in patients relative to healthy controls, between the pallidum and the brainstem. Tractography was decreased in the left hemisphere and increased in the right hemisphere in patients, suggesting a potential basis for the left/right white matter asymmetry we previously observed in focal dystonia patients.These findings support the hypothesis that connections between the basal ganglia and brainstem play a role in the pathophysiology of dystonia.

  3. Weight change following GPi or STN deep brain stimulation in Parkinson’s disease and dystonia

    Science.gov (United States)

    Mills, Kelly A.; Scherzer, Rebecca; Starr, Philip A.; Ostrem, Jill L.

    2013-01-01

    Background Weight gain has been described in Parkinson’s disease (PD) patients after subthalamic nucleus (STN) deep brain stimulation (DBS). Objectives We examined change in weight following DBS in both PD and dystonia patients to further investigate the role of disease and brain target (STN or GPi) specificity. Methods Data was retrospectively collected on 61 PD DBS patients (STN (n=31) or GPi (n=30)) and on 36 dystonia DBS patients (STN (n=9) and GPi (n=27)) before and after surgery. Annual change in body mass index (BMI) was evaluated with non-parametric tests between groups and multiple quantile regression. Results PD patients treated with STN DBS had a small increase in median BMI while those with GPi had a small decrease in BMI. Dystonia patients treated with STN DBS had a greater increase in BMI per year compared to those treated with GPi. Multivariable regression analyses for each disease showed little difference between targets in weight gain in those with PD, but STN target was strongly associated with weight gain in dystonia patients (STN vs. GPi, +7.99 kg, p=0.012). Conclusions Our results support previous reports of weight gain after DBS in PD. This is the first report to suggest a target-specific increase in weight following STN DBS in dystonia patients. PMID:22922491

  4. Deep brain stimulation and dantrolene for secondary dystonia in x-linked adrenoleukodystrophy.

    Science.gov (United States)

    van Karnebeek, Clara; Horvath, Gabriella; Murphy, Tyler; Purtzki, Jacqueline; Bowden, Kristin; Sirrs, Sandra; Honey, Christopher R; Stockler, Sylvia

    2015-01-01

    Deep brain stimulation (DBS) has been used to treat secondary dystonias caused by inborn errors of metabolism with varying degrees of effectiveness. Here we report for the first time the application of DBS as treatment for secondary dystonia in a 22-year-old male with X-linked adrenoleukodystrophy (X-ALD). The disease manifested at age 6 with ADHD, tics, and dystonic gait, and deteriorated to loss of ambulation by age 11, and speech difficulties, seizures, and characteristic adrenal insufficiency by age 16. DBS in the globus pallidus internus was commenced at age 18. However, after 25 months, no improvement in dystonia was observed (Burke-Fahn-Marsden (BFM) scores of 65.5 and 62 and disability scores of 28 and 26, pre- and post-DBS, respectively) and the DBS device was removed. Treatment with dantrolene reduced skeletal muscle tone and improved movement (Global Dystonia Rating Scores from 5 to 1 and BFM score 42). Therefore, we conclude that DBS was a safe but ineffective intervention in our case with long-standing dystonia, whereas treatment of spasticity with dantrolene did improve the movement disorder in this young man with X-ALD.

  5. Utilization and perceived effectiveness of complementary and alternative medicine in patients with dystonia.

    Science.gov (United States)

    Junker, Judith; Oberwittler, Christoph; Jackson, Didi; Berger, Klaus

    2004-02-01

    The use of complementary and alternative medicine (CAM) is increasing worldwide, especially by patients with chronic diseases. To date, no data are available about utilization and perceived effectiveness of CAM in patients with dystonia. A questionnaire survey on utilization and costs of CAM was completed by 180 members of the German Dystonia Society, a patient advocate group. In total, 131 dystonia patients (73%) were current or former users of CAM, 55 patients used CAM in addition to botulinum toxin A injections, and 86 patients had experience with three or more CAM methods. The options used most widely were acupuncture (56%), relaxation techniques (44%), homeopathy (27%), and massages (26%). Among users of specific CAM methods, breathing therapy, Feldenkrais, massages, and relaxation techniques were perceived as most effective. On average, patients spent 1,513 Euro on CAM without reimbursement. There was no correlation between costs and perceived effectiveness of different methods. In line with other studies on chronically ill patients, our results show that dystonia patients frequently utilize CAM methods, often in addition to conventional treatment. There is a growing need to evaluate scientifically the effect of CAM methods on symptom severity and quality of life in dystonia, to prevent utilization of costly and ineffective CAM treatments.

  6. The occurrence of dystonia in upper-limb multiple sclerosis tremor.

    Science.gov (United States)

    Van der Walt, A; Buzzard, K; Sung, S; Spelman, T; Kolbe, S C; Marriott, M; Butzkueven, H; Evans, A

    2015-12-01

    The pathophysiology of multiple sclerosis (MS) tremor is uncertain with limited phenotypical studies available. To investigate whether dystonia contributes to MS tremor and its severity. MS patients (n = 54) with and without disabling uni- or bilateral upper limb tremor were recruited (39 limbs per group). We rated tremor severity, writing and Archimedes spiral drawing; cerebellar dysfunction (SARA score); the Global Dystonia Scale (GDS) for proximal and distal upper limbs, dystonic posturing, mirror movements, geste antagoniste, and writer's cramp. Geste antagoniste, mirror dystonia, and dystonic posturing were more frequent and severe (p tremor severity in tremor compared to non-tremor patients. A 1-unit increase in distal dystonia predicted a 0.52-Bain unit (95% confidence interval (CI) 0.08-0.97), p = 0.022) increase in tremor severity and a 1-unit (95% CI 0.48-1.6, p = 0.001) increase in drawing scores. A 1-unit increase in proximal dystonia predicted 0.93-Bain unit increase (95% CI 0.45-1.41, p tremor severity and 1.5-units (95% CI 0.62-2.41, p = 0.002) increase in the drawing score. Cerebellar function in the tremor limb and tremor severity was correlated (p tremor suggesting that MS tremor pathophysiology involves cerebello-pallido-thalamo-cortical network dysfunction. © The Author(s), 2015.

  7. Diagnosis and Management of Drooling in Children With Progressive Dystonia: A Case Series of Patients With MEGDEL Syndrome

    NARCIS (Netherlands)

    Blommaert, D.; Hulst, K. van; Hoogen, F.J.A. van den; Erasmus, C.E.; Wortmann, S.B.

    2016-01-01

    Drooling is a common problem in children with progressive dystonia. The authors noted a 58% incidence of drooling in 22/38 children with MEGDEL, a rare neurodegenerative cause of dystonia and report on the clinical course of four patients. Drooling of varying severity and subsequent respiratory

  8. Distribution and Coexistence of Myoclonus and Dystonia as Clinical Predictors of SGCE Mutation Status: A Pilot Study

    NARCIS (Netherlands)

    Zutt, Rodi; Dijk, Joke M.; Peall, Kathryn J.; Speelman, Hans; Dreissen, Yasmine E. M.; Contarino, Maria Fiorella; Tijssen, Marina A. J.

    2016-01-01

    Myoclonus-dystonia (M-D) is a young onset movement disorder typically involving myoclonus and dystonia of the upper body. A proportion of the cases are caused by mutations to the autosomal dominantly inherited, maternally imprinted, epsilon-sarcoglycan gene (SGCE). Despite several sets of diagnostic

  9. Psychogenic dystonia of the hand: A clinical case

    Directory of Open Access Journals (Sweden)

    A. I. Baidauletova

    2016-01-01

    Full Text Available The article describes a clinical case of psychogenic movement disorder appearing as fixed dystonia without pain. Over 5 years, a patient has had the right fingers being permanently clenched into a fist position at rest, which increased when fulfilling any motor task; carpal pain was absent. When he was 18 years old, the patient sustained a blast injury with concussion. A leather glove was used to reduce clenching and a makeshift device was applied to move the fingers apart. Motor function of the hand persisted; its atrophy was absent; muscle tone in the hand was sufficient; reflexes were symmetrical; sensitivity was not impaired. His gait, voice, speech were not changed. When writing, there was increased pencil grasp (not writer's cramp; his handwriting was smooth and legible. The patient uses the voluntary compensatory movements of the right hand (holding a thing with one hand in a supine position and fingers (crossing the third finger over the fourth and conversely, which reduce the manifestations of movement disorder. He refused psychiatric examination and to take any medications. 

  10. Acute Dystonia in a Child Receiving Metoclopramide: Case Report

    Directory of Open Access Journals (Sweden)

    Alaaddin Yorulmaz

    2016-11-01

    Full Text Available Metoclopramide is a benzamide that is a dopamine receptor, often preferred as a prokinetic agent to accelerate gastrointestinal passage in the treatment of gastroesophageal reflux disease; itis also used as an antiemetic agent in many diseases that progress with nausea-vomiting. It is effective on the digestive system both centrally and peripherally. It easily overcomes the blood-brain barrier and may create side effects pertaining to the extrapyramidal system. Acute dystonic reaction is rare among these side effects; it is, however, a condition that needs to be treated urgently. This paper presents a 5-month-old infant patient who developed acute dystonic reaction secondary to the use of Metpamid at a high dose. The diagnosis in this case was made based onpatient history. The patient%u2019s symptoms rapidly disappeared thanks to treatment with diphenhydramine. It should be remembered that metoclopramide may cause side effects in patients presenting to the emergency service with acute dystonia, soa complete history of drugs should definitely be taken for such patients.

  11. A psychogenic dystonia perfect responsive to antidepressant treatment.

    Directory of Open Access Journals (Sweden)

    Volkan Solmaz

    2014-03-01

    Full Text Available After ruling out of organic causes, movement disorders are named as psychogenic movement disorders, it can mimic perfectly Organic movement disorders, but with a good history, clinical observations and detailed examination is very helpful in the diagnosis of this disease. In here we will present a 15 years old male patient, he was complaining of urinary incontinence at night, emerging dystonic posture especially in crowded environments, eating, and during activities that require attention, for 5 years. Self and family history was unremarkable. His physical and neurological examination was normal except for dystonic posture esipecially writing and when doing skilled jobs. All the tests were normal for the differential diagnosis. Taking into account the patient\\s clinical findings and cilinical test, the patient was diagnosed as psychogenic dystonia. He gave a very good response to treatment with antidepressants and psychotherapy. As a result, in clinical practice both the diagnostic and therapeutic challenges the psychogenic movement disorders is an important problem, and to get rid of the negative effects of unnecessary diagnostic test and side efects of treatment, you need to keep in mind this diagnosis. [J Contemp Med 2014; 4(1.000: 29-31

  12. Comparing endophenotypes in adult-onset primary torsion dystonia.

    LENUS (Irish Health Repository)

    Bradley, David

    2012-02-01

    Adult-onset primary torsion dystonia (AOPTD) has an autosomal dominant pattern of inheritance with markedly reduced penetrance; the genetic causes of most forms of AOPTD remain unknown. Endophenotypes, markers of sub-clinical gene carriage, may be of use detecting non-manifesting gene carriers in relatives of AOPTD patients. The aim of this study was to compare the utility of the spatial discrimination threshold (SDT) and temporal discrimination threshold (TDT) as potential endophenotypes in AOPTD. Data on other published candidate endophenotypes are also considered. Both SDT and TDT testing were performed in 24 AOPTD patients and 34 of their unaffected first degree relatives; results were compared with normal values from a control population. Of the 24 AOPTD patients 5 (21%) had abnormal SDTs and 20 (83%) had abnormal TDTs. Of the 34 first degree relatives 17 (50%) had abnormal SDTs and 14 (41%) had abnormal TDTs. Discordant results on SDT and TDT testing were found in 16 (67%) AOPTD patients and 21 (62%) first degree relatives. TDT testing has superior sensitivity compared to SDT testing in AOPTD patients; although false positive TDTs are recognised, the specificity of TDT testing in unaffected relatives is not determinable. The high level of discordance between the two tests probably relates methodological difficulties with SDT testing. The SDT is an unreliable AOPTD endophenotype; TDT testing fulfils criteria for a reliable endophenotype with a high sensitivity.

  13. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study

    DEFF Research Database (Denmark)

    Djarmati, Ana; Schneider, Susanne A; Lohmann, Katja

    2009-01-01

    and these and an additional 75 controls were screened for a rare non-coding mutation. FINDINGS: We identified two mutations in THAP1 (388_389delTC and 474delA), respectively, in two (1%) German patients from the 160 patients with dystonia. Both mutation carriers had laryngeal dystonia that started in childhood and both went......-onset generalised dystonia with spasmodic dysphonia. This combination of symptoms might be a characteristic feature of DYT6 dystonia and could be useful in the differential diagnosis of DYT1, DYT4, DYT12, and DYT17 dystonia. In addition to the identified mutations, a rare non-coding substitution in THAP1 might...

  14. Frequency analysis of lower extremity electromyography signals for the quantitative diagnosis of dystonia

    Science.gov (United States)

    Go, Shanette A.; Coleman-Wood, Krista; Kaufman, Kenton R.

    2014-01-01

    The purpose of this study was to develop an objective, quantitative tool for the diagnosis of lower extremity dystonia. Frequency domain analysis was performed on surface and fine-wire electromyography (EMG) signals collected from the lower extremity musculature of ten patients with suspected dystonia while performing walking trials at self-selected speeds. The median power frequency (MdPF) and percentage of total power contained in the low frequency range (%AUCTotal) were determined for each muscle studied. Muscles exhibiting clinical signs of dystonia were found to have a shift of the MdPF to lower frequencies and a simultaneous increase in the %AUCTotal. A threshold frequency of 70 Hz identified dystonic muscles with 73% sensitivity and 63% specificity. These results indicate that frequency analysis can accurately distinguish dystonic from non-dystonic muscles. PMID:24295542

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

    DEFF Research Database (Denmark)

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

    2018-01-01

    In this review, we will work around two simple definitions of two different entities, which most often co-exist in patients with lesions to central motor pathways: Spasticity is “Enhanced excitability of velocity-dependent responses to phasic stretch at rest”, which will not be the subject...... of this review, while Spastic dystonia is tonic, chronic, involuntary muscle contraction in the absence of any stretch or any voluntary command (Gracies, 2005). Spastic dystonia is a much less well understood entity that will be the subject this review. Denny-Brown (1966) observed involuntary sustained muscle...... coined the term spastic dystonia to describe this involuntary tonic activity in the context of otherwise exaggerated stretch reflexes. Sustained involuntary muscle activity in the absence of any stretch or any voluntary command contributes to burdensome and disabling body deformities in patients...

  16. Dopa-Responsive Dystonia and gait analysis: A case study of levodopa therapeutic effects.

    Science.gov (United States)

    Rebour, Rémi; Delporte, Ludovic; Revol, Patrice; Arsenault, Lisette; Mizuno, Katsuhiro; Broussolle, Emmanuel; Luauté, Jacques; Rossetti, Yves

    2015-06-01

    Patients suffering Dopa-Responsive Dystonia present dystonia, abnormal postural balance and gait impairment. Treatment with levodopa typically improves these three symptoms. The present study provides an extensive analysis of gait and posture in a patient with Dopa-Responsive Dystonia, prior to and during levodopa therapy. The patient was assessed with the Unified Dystonia Rating Scale, underwent motion analysis with an optoelectronic system and postural analysis with force plates. This study provides a detailed quantification of gait parameters in a Dopa-Responsive Dystonia patient. Prior to treatment, mean walking speed was severely reduced, gait cadence and step length were decreased and stride width was increased. Right lower limb and pelvis showed kinematic defects, trunk and Centre of Mass were backwards. During levodopa therapy, the walking speed was doubled, gait cadence and step length were increased and stride width was reduced. Nearly all kinematic parameters of lower limbs were significantly improved. The patient's Centre of Mass during gait and Centre of pressure in static position both shifted forward. Levodopa dramatically decreased dystonia and improved spatio-temporal, kinematic and posture parameters. Our main pathophysiological hypothesis is that trunk tilt and its consequences on the Centre of Mass position have a pivotal influence on gait and balance, explaining both the initial impairments and the therapeutic effects. Gait analysis proves to be an effective tool to understand the pathophysiology of this patient, the therapeutic effects and mild residual gait defects in order to plan further rehabilitation strategy for this DRD patient. We propose that it will also prove to be useful for the exploration of other dystonic patients. Copyright © 2014 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  17. Postural control in Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Jackeline Yumi Fukunaga

    2014-12-01

    Full Text Available Introduction: Postural instability is one of the most disabling features of Parkinson's disease. Objective: To evaluate postural balance in Parkinson's disease. Methods: Thirty patients with Parkinson's disease were compared with controls using Tetrax™ interactive balance system posturography. Results: For different positions, patients with Parkinson's disease showed a significantly higher weight distribution index, fall index, Fourier transformation at low-medium frequencies (F2–F4, and significantly lower right/left and toe/heel synchronization versus controls. Conclusion: Postural imbalance in Parkinson's disease patients is characterized by the abnormalities of weight distribution index, synchronization index, Fourier transformation index, and fall index as measured by Tetrax™ posturography.

  18. ASPEK PSIKIATRI PADA PENYAKIT PARKINSON

    Directory of Open Access Journals (Sweden)

    Putu Agus Grantika

    2015-10-01

    Full Text Available Penyakit Parkinson merupakan suatu kelainan degeneratif sistem saraf pusat yang disebabkan olehaktivitas neuron dopaminergik yang sangat berkurang, terutama di daerah pars kompakta dari nigrasubstantia. Penyakit Parkinson menampilkan gejala motor dan gejala nonmotor yang meliputi berbagaidomain termasuk gejala-gejala di bidang psikiatri.Gejala psikiatri pada penyakit Parkinson seringterjadi bahkan pada tahap awal penyakit, dan memiliki konsekuensi penting terhadap kualitas hidupdan fungsi sehari-hari. Gejala psikiatri yang paling sering muncul pada penyakit Parkinson adalahpsikosis,  depresi,  dan  kecemasan. Patofisiologi  gangguan neuropsikiatri  ini  sangat  kompleks  danmultifaktorial, melibatkan proses neurodegeneratif, mekanisme psikologis dan efek yang berkaitandengan pengobatan farmakologis. [MEDICINA 2015;46:28-32].Parkinson?s disease is a degenerative disorder of the central nervous systemdue togreatly reduced ofthe activity of dopaminergic neurons, especially pars compacta area in the substantia nigra. Parkinson?sdisease show motor and non-motor symptoms that include a variety of domains, including psychiatricsymptoms. Psychiatric symptoms in Parkinson?s disease often occur in the early stages of disease, andhas important consequences for the quality of life and daily functioning. The most frequent psychiatricsymptoms appear in Parkinson?s disease are psychosis, depression, and anxiety. Pathophysiology ofneuropsychiatric disorders are complex and multifactorial,  involving neuro degenerative processes,psychological mechanisms and associated with the effects of pharmacological treatment. [MEDICINA2015;46:28-32].

  19. Discinesias induzidas por levodopa em 176 pacientes com doença de Parkinson Levodopa-induced dyskinesias in 176 parkisonian patients

    Directory of Open Access Journals (Sweden)

    Maria Sheila G. Rocha

    1995-12-01

    Full Text Available A ocorrência de discinesias dificulta consideravelmente o manuseio terapêutico dos pacientes parkinsonianos tratados com levodopa. Estudamos as características clínicas das discinesias em 176 pacientes com diagnóstico de doença de Parkinson e tratados com levodopa. As discinesias ocorreram, em média, após 6,2 anos de duração da doença e após 4,2 anos de tratamento com levodopa. A maioria dos pacientes (90% achava-se nos estágios II e III de Hoehn & Yahr por ocasião do início das discinesias. As discinesias mais frequentes foram as de "pico de dose" e "contínua". Movimento do tipo distônico ocorreu em 40% dos casos e predominou nas discinesias de "fim de dose" e "bifásica". Distonia matinal correspondeu a 35% dos casos de distonia. Movimentos coreiformes se manifestaram de forma generalizada em 43,2% dos casos. Movimentos distônicos predominaram nos membros inferiores. A discinesia, quando unilateral, ocorreu mais frequüentemente no hemicorpo mais comprometido pela doença de Parkinson. A discinesia orofacial, quando isolada, foi mais frequente nos pacientes mais idosos.Dyskinesias are frequently observed in parkinsonian patients during levodopa treatment. The occurrence of these movement disorders usually makes the therapeutic management of the patients very difficult. The clinical characteristics of 176 patients with dyskinesias were retrospectively studied. Dyskinesias occurred, on average, after 6,2 years of duration of Parkinson's disease and after 4.2 years on treatment with levodopa. Patients were more likely to have dyskinesias during more advanced stages (measured by Hoehn and Yahr scale. Peak of dose and square wave were the types of dyskinesia more frequently described and were associated with choreic movements in most cases. Dystonia occurred in 40% of the cases and was predominant in end of dose and diphasic dyskinesias. Thirty-five percent of dystonia cases presented as "early morning dystonia". Chorea was the

  20. Parkinson Disease and Dementia.

    Science.gov (United States)

    Garcia-Ptacek, Sara; Kramberger, Milica G

    2016-09-01

    Dementia is a frequent complication of Parkinson disease (PD) with a yearly incidence of around 10% of patients with PD. Lewy body pathology is the most important factor in the development of Parkinson disease dementia (PDD) and there is evidence for a synergistic effect with β-amyloid. The clinical phenotype in PDD extends beyond the dysexecutive syndrome that is often present in early PD and encompasses deficits in recognition memory, attention, and visual perception. Sleep disturbances, hallucinations, neuroleptic sensitivity, and fluctuations are often present. This review provides an update on current knowledge of PDD including aspects of epidemiology, pathology, clinical presentation, management, and prognosis. © The Author(s) 2016.

  1. Toxic equine parkinsonism: an immunohistochemical study of 10 horses with nigropallidal encephalomalacia.

    Science.gov (United States)

    Chang, H T; Rumbeiha, W K; Patterson, J S; Puschner, B; Knight, A P

    2012-03-01

    Chronic ingestion of yellow star thistle (Centaurea solstitialis) or Russian knapweed (Acroptilon repens) causes nigropallidal encephalomalacia (NPE) in horses with an abrupt onset of neurologic signs characterized by dystonia of lips and tongue, inability to prehend food, depression, and locomotor deficits. The objectives of this study were to reexamine the pathologic alterations of NPE and to conduct an immunohistochemistry study using antibodies to tyrosine hydroxylase and α-synuclein, to determine whether NPE brains show histopathologic features resembling those in human Parkinson disease. Results confirm that the NPE lesions are located within the substantia nigra pars reticulata, sparing the cell bodies of the dopaminergic neurons in the substantia nigra pars compacta, and in the rostral portion of the globus pallidus, with partial disruption of dopaminergic (tyrosine hydroxylase-positive) fibers passing through the globus pallidus. No abnormal cytoplasmic inclusions like the Lewy bodies of human Parkinson disease were seen in these NPE brains. These findings indicate that equine NPE may serve as a large animal model of environmentally acquired toxic parkinsonism, with clinical phenotype directly attributable to lesions in globus pallidus and substantia nigra pars reticulata rather than to the destruction of dopaminergic neurons.

  2. Asymmetric pallidal neuronal activity in patients with cervical dystonia

    Directory of Open Access Journals (Sweden)

    Christian KE eMoll

    2014-02-01

    Full Text Available The origin of asymmetric clinical manifestation of symptoms in patients suffering from cervical dystonia (CD is hitherto poorly understood. Dysregulated neuronal activity in the basal ganglia has been suggested to have a role in the pathophysiology of CD. Here, we re-assessed the question to what extent relative changes occur in the direct versus indirect basal ganglia pathway in CD, whether these circuit changes are lateralized, and how these alterations relate to CD symptoms. To this end, we recorded ongoing single cell and local field potential (LFP activity from the external (GPe and internal pallidal segment (GPi of thirteen CD patients undergoing microelectrode-guided stereotactic surgery for deep brain stimulation in the GPi. We compared pallidal recordings from CD patients operated under local anaesthesia (LA with those obtained in CD patients operated under general anaesthesia (GA. In awake patients, mean GPe discharge rate (52 Hz was lower than that of GPi (72 Hz. Mean GPi discharge ipsilateral to the side of head turning was higher than contralateral and correlated with torticollis symptom severity. Lateralized differences were absent at the level of the GPe and in recordings from patients operated under GA. Furthermore, in the GPi of CD patients there was a subpopulation of theta-oscillatory cells with unique bursting characteristics. Power and coherence of GPe- and GPi-LFPs were dominated by a theta peak and also exhibited band-specific interhemispheric differences. Strong cross-frequency coupling of low-gamma amplitude to theta phase was a feature of pallidal LFPs recorded under LA, but not GA. These results indicate that CD is associated with an asymmetric pallidal outflow. Based on the finding of symmetric neuronal discharges in the GPe, we propose that an imbalanced interhemispheric direct pathway gain may be involved in CD pathophysiology.

  3. Growth hormone deficiency in a dopa-responsive dystonia patient with a novel mutation of guanosine triphosphate cyclohydrolase 1 gene.

    Science.gov (United States)

    Lin, Yu; Wang, Dan-Ni; Chen, Wan-Jin; Lin, Xiang; Lin, Min-Ting; Wang, Ning

    2015-05-01

    Dopa-responsive dystonia is a rare hereditary movement disorder caused by mutations in the guanosine triphosphate cyclohydrolase 1 (GCH1) gene. This disease typically manifests in dystonia, with marked diurnal fluctuation and a dramatic response to levodopa. However, growth retardation in dopa-responsive dystonia has rarely been reported, and the etiology of short stature is not clarified. Here, we report a 14-year-old patient with extremities dystonia and short stature. Treatment with levodopa relieved his symptoms and resulted in a height increase. We also investigated the mutation in GCH1 and the etiology of short stature in this case. Sequence analysis of GCH1 revealed a novel mutation (c.695G>T). Laboratory examinations and imaging confirmed the diagnosis of growth hormone deficiency. We conclude that our case reveals a rare feature for dopa-responsive dystonia and suggests a possible pathogenic link between growth hormone deficiency and dopa-responsive dystonia. We recommend levodopa as the first choice for treating dopa-responsive dystonia in children with growth hormone deficiency. © The Author(s) 2014.

  4. Parkinson's Disease Videos

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    Full Text Available ... Changes and Overlooked PD Symptoms Nursing Solutions: PD Medication Adherence Challenges Jose Maria Lobo y Voces Del Párkinson: “Soy el compas de otra canción” Expert Briefings: Diagnosis PD, Now What? Managing ... Counts Caring & Coping Caregiver's Guide Managing Parkinson's ...

  5. Osteoporose ved Parkinsons sygdom

    DEFF Research Database (Denmark)

    Ezzatian-Ahar, Shabnam; Schwarz, Peter; Pedersen, Stephen Wørlich

    2015-01-01

    The risk of developing osteoporosis, as well as Parkinson's disease (PD) is increased with increasing age, resulting in increased risk of fracture, particularly hip fractures. Each one of these two conditions can be debilitating and affect the individual patient's quality of life negatively. PD...

  6. Parkinson's Disease Videos

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    Full Text Available ... Subscribe to get the latest news on treatments, research and other updates. Email Address Sign Up Questions? Call our Helpline: 1-800-4PD-INFO (473-4636) © 2018 Parkinson's Foundation Miami: 200 SE 1st Street, Suite 800, Miami, ...

  7. Parkinson's Disease Videos

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  8. Parkinson's Disease Videos

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    Full Text Available ... Caregivers Living with Parkinson's While living with PD can be challenging, there are many things you can do to maintain and improve your quality of ... Ways to Give There are many ways you can support the fight against Parkinson’s. Whatever form your ...

  9. Parkinson's Disease Videos

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    Full Text Available ... Maria Lobo: Musica en vivo con Lobo! CareMAP: Thinking Changes: Part 2 CareMAP: Medications and General Health ... Martinez, MAPC - Parkinson- Pasion, Positivismo y Participacion” CareMAP: Thinking Changes: Part 1 CareMAP: Challenges and Rewards of ...

  10. Nondipping in Parkinson's Disease

    Directory of Open Access Journals (Sweden)

    Sita Sommer

    2011-01-01

    Full Text Available Objective. The aim of this study was to identify patients with Parkinson's disease who showed loss or decrease of nocturnal blood pressure fall (nondipper patients as a marker of autonomic dysfunction. Presence or absence of orthostatic hypotension was considered to investigate whether alterations in circadian blood pressure pattern are associated with posture-related dysregulation of blood pressure. Methods. 40 patients with Parkinson's disease underwent 24-hour blood pressure monitoring. 21 patients were diagnosed with arterial hypertension and received anti-hypertensive drugs. Nondipper patients were defined as having nocturnal decrease of mean systolic and diastolic blood pressure less than 10%. Presence or absence of orthostatic hypotension was determined by Schellong's test. Results. We identified 35 nondipper patients (88%. Nondipping was detected in 20 patients with orthostatic hypotension (95% and in 15 patients without orthostatic hypotension (79%. 18 patients with hypertensive and 22 patients with normal blood pressure values were detected. Conclusions. In conclusion 24-hour blood pressure monitoring showed a high prevalence of nondipping in 40 patients with Parkinson's disease with and without orthostatic hypotension independent of coexisting arterial hypertension and antihypertensive treatment. 24-hour blood pressure monitoring may be useful to identify non-dipping as a marker of autonomic dysfunction in patients with Parkinson's disease.

  11. Parkinson's Disease Videos

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    Full Text Available ... to Use for Freezing? CareMAP: Is a Care Facility Needed? CareMAP: Caring from Afar CareMAP: Dressing Building ... Progression of the Disease? OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis What Are Some Strategies ...

  12. Parkinson's Disease Videos

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    Full Text Available ... you can do to maintain and improve your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers of Excellence Bringing Care to You Expert Care Programs Professional ... Research We Fund ...

  13. Parkinsonism secondary to neurosyphilis

    African Journals Online (AJOL)

    1983-04-23

    Apr 23, 1983 ... Although the association between neurosyphilis and parkinson- ism is rare, it is accepted that Treponema pallidufII can cause the features of this condition,l The signs of involvement of the basal ganglia may appear soon after the initial infection or may be delayed for some years1. Usually the classic ...

  14. 3. Parkinson paper

    African Journals Online (AJOL)

    Background: Patients with Parkinson's disease. (PD) show a dramatic increase in their brain iron content has suggested the role of iron in degeneration of dopaminergic nigrostriatal neurons in PD. Several studies have described the association of high dietary iron and PD. However, the role of iron the pathogenesis of PD is ...

  15. Oxysterols and Parkinson's disease

    DEFF Research Database (Denmark)

    Björkhem, Ingemar; Lövgren-Sandblom, Anita; Leoni, Valerio

    2013-01-01

    Oxysterols are important for cholesterol homeostasis in the brain and may be affected in neurodegenerative diseases. The levels of the brain-derived oxysterol 24S-hydroxycholesterol (24S-OH) have been reported to be markedly reduced in the circulation of patients with Parkinson's disease (PD) (Lee...

  16. Parkinson's Disease Videos

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    Full Text Available ... you can do to maintain and improve your quality of life and live well with Parkinson's disease. Learn More Expert Care Patient Centered Care Centers of Excellence Bringing Care to You Expert Care Programs Professional Education Expert Care Research shows people with Parkinson’s who ...

  17. Parkinson's Disease Videos

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    Full Text Available ... el Comportamiento, Parte 1 CareMAP: Medicamentos y la Salud en General, Parte 1 Expert Briefings: Apathy or ... Disease? Hallucinations and Delusions CareMAP: Medicamentos y la Salud en General, Parte 2 OHSU - Parkinson's Disease: Managing ...

  18. Parkinson disease: an update.

    Science.gov (United States)

    Gazewood, John D; Richards, D Roxanne; Clebak, Karl

    2013-02-15

    Parkinson disease is a progressive neurologic disorder afflicting approximately 1 percent of Americans older than 60 years. The cardinal features of Parkinson disease are bradykinesia, rigidity, tremor, and postural instability. There are a number of neurologic conditions that mimic the disease, making it difficult to diagnose in its early stages. Physicians who rarely diagnose Parkinson disease should refer patients suspected of having it to physicians with more experience in making the diagnosis, and should periodically reevaluate the accuracy of the diagnosis. Treatment is effective in reducing motor impairment and disability, and should be started when a patient begins to experience functional impairment. The combination of carbidopa and levodopa is the most effective treatment, but dopamine agonists and monoamine oxidase-B inhibitors are also effective, and are less likely to cause dyskinesias. For patients taking carbidopa/levodopa who have motor complications, adjunctive therapy with a dopamine agonist, a monoamine oxidase-B inhibitor, or a catechol O-methyltransferase inhibitor will improve motor symptoms and functional status, but with an increase in dyskinesias. Deep brain stimulation is effective in patients who have poorly controlled symptoms despite optimal medical therapy. Occupational, physical, and speech therapy improve patient function. Fatigue, sleep disturbances, dementia, and depression are common in patients with Parkinson disease. Although these conditions are associated with significantly lower quality of life, they may improve with treatment.

  19. Parkinson's Disease Videos

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    Full Text Available ... Medical Planning Tips for Care Partners Nursing Solutions: Innovations in PD Nurse Education CareMAP: Managing Advanced Parkinson's ... Medications? What to Expect Emotionally What are some strategies to prevent falls in PD patients? CareMAP: Mealtime ...

  20. Parkinson's Disease Videos

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    Full Text Available ... Slewett Who Is a Candidate for DBS? CareMAP: Movimientos y Caídas, Parte 1 Caregiver Summit 2016: Building ... Under-Diagnosed in Patients with Parkinson's Disease? CareMAP: Movimientos y Caídas, Parte 2 Caregiver Summit 2016: Maintaining ...

  1. Parkinson's Disease Videos

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    Full Text Available ... Helpline Ask the Doctor Resources in Your Community Education & Wellness PD Library Aware in Care Kit Legal / ... Parkinson's Outcomes Project Grants Telemedicine & Virtual Care Professional Training ... Wellness Program: Step by Step CareMAP: Activities at Home CareMAP: ...

  2. Parkinson's Disease Videos

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    Full Text Available ... Following a Medication Schedule? CareMAP: Medications and General Health Part 1 What Is the Impact of PD ... 2 ¿Cómo Se Diagnostica el Parkinson? CareMAP: Prioritizing Health Needs of the Caregiver CareMAP: Putting Things in ...

  3. Parkinson's Disease Videos

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    Full Text Available ... a Fundraiser Call Our HELPLINE: 1-800-4PD-INFO (473-4636) Español About Us In Your Area ... Menu Close Call Our HELPLINE 1-800-4PD-INFO (473-4636) helpline@parkinson.org Search Our Site ...

  4. Parkinson's Disease Videos

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    Full Text Available ... Following a Medication Schedule? CareMAP: Medications and General Health Part 1 Natalie Diaz, MD, Harbor-UCLA Medical ... Treated? ¿Cómo Se Diagnostica el Parkinson? CareMAP: Prioritizing Health Needs of the Caregiver CareMAP: Putting Things in ...

  5. [Pramipexole in Parkinson's disease].

    Science.gov (United States)

    Shindriaeva, N N; Gankina, O A; Levin, O S

    2015-01-01

    Pramipexole is non-ergoline dopamine receptor agonist. There is accumulating evidence for the efficacy of pramipexole in treatment of Parkinson's disease (PD). Authors have summarized the results concerning the optimal start treatment, the using of pramipexole in early and advanced PD stages, effects of pramipexole on tremor, cognitive impairment, affective functions and safety pramipexole.

  6. Parkinson's Disease Videos

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    Full Text Available ... Parkinson’s? Get involved to help raise funds and awareness for the 1 million Americans living with Parkinson’s ... help - more than ever - in helping us raise awareness to beat Parkinson's disease and ensuring a better ...

  7. Parkinson's Disease Videos

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    Full Text Available ... Care Partners MORE RESULTS Help is just a click away. The PD Library is an extensive collection ... Email Address Sign Up Questions? Call our Helpline: 1-800-4PD-INFO (473-4636) © 2018 Parkinson's Foundation ...

  8. Parkinson's Disease Videos

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    Full Text Available ... Does Depression Affect the Patient's Family and Social Network? Parkinson’s Disease Psychosis: A Caregiver’s Story CareMAP: Where ... en Casa, Parte 1 OHSU - Parkinson's Disease: Pharmacological Management of Depression, Anxiety & Psychosis Caregiver Summit 2016: Caregiving: ...

  9. Anodal transcranial direct current stimulation to the cerebellum improves handwriting and cyclic drawing kinematics in focal hand dystonia.

    Science.gov (United States)

    Bradnam, Lynley V; Graetz, Lynton J; McDonnell, Michelle N; Ridding, Michael C

    2015-01-01

    There is increasing evidence that the cerebellum has a role in the pathophysiology of primary focal hand dystonia and might provide an intervention target for non-invasive brain stimulation to improve function of the affected hand. The primary objective of this study was to determine if cerebellar transcranial direct current stimulation (tDCS) improves handwriting and cyclic drawing kinematics in people with hand dystonia, by reducing cerebellar-brain inhibition (CBI) evoked by transcranial magnetic stimulation (TMS). Eight people with dystonia (5 writer's dystonia, 3 musician's dystonia) and eight age-matched controls completed the study and underwent cerebellar anodal, cathodal and sham tDCS in separate sessions. Dystonia severity was assessed using the Writer's Cramp Rating Scale (WRCS) and the Arm Dystonia Disability Scale (ADDS). The kinematic measures that differentiated the groups were; mean stroke frequency during handwriting and fast cyclic drawing and average pen pressure during light cyclic drawing. TMS measures of cortical excitability were no different between people with FHD and controls. There was a moderate, negative relationship between TMS-evoked CBI at baseline and the WRCS in dystonia. Anodal cerebellar tDCS reduced handwriting mean stroke frequency and average pen pressure, and increased speed and reduced pen pressure during fast cyclic drawing. Kinematic measures were not associated with a decrease in CBI within an individual. In conclusion, cerebellar anodal tDCS appeared to improve kinematics of handwriting and circle drawing tasks; but the underlying neurophysiological mechanism remains uncertain. A study in a larger homogeneous population is needed to further investigate the possible therapeutic benefit of cerebellar tDCS in dystonia.

  10. Can You Have Parkinsonism without Having PD?

    Science.gov (United States)

    ... Home › Can You Have Parkinsonism Without Having PD? Can You Have Parkinsonism Without Having PD? YES . Parkinsonism ... Certain medications, vascular problems, and other neurodegenerative diseases can cause the symptoms similar to Parkinson’s disease. In ...

  11. Integrated molecular landscape of Parkinson's disease

    NARCIS (Netherlands)

    Klemann, C.J.H.M.; Martens, G.J.; Sharma, M.; Martens, M.B.; Isacson, O.; Gasser, T.; Visser, J.E.; Poelmans, G.J.V.

    2017-01-01

    Parkinson's disease is caused by a complex interplay of genetic and environmental factors. Although a number of independent molecular pathways and processes have been associated with familial Parkinson's disease, a common mechanism underlying especially sporadic Parkinson's disease is still largely

  12. Dystonia in complex regional pain syndrome : clinical, pathophysiological and therapeutic aspects

    NARCIS (Netherlands)

    Rijn, Monica Adriana van

    2010-01-01

    The clinical characteristics of Complex Regional Pain Syndrome (CRPS) are defined by pain and various combinations of sensory disturbances, autonomic features, and sudomotor and trophic changes. Furthermore, patients with CRPS may suffer from movement disorders, of which dystonia is the most

  13. Genetic HLA Associations in Complex Regional Pain Syndrome With and Without Dystonia

    NARCIS (Netherlands)

    van Rooijen, D.E.; Roelen, D.L.; Verduijn, W.; Haasnoot, G.W.; Huygen, F.J.P.M.; Perez, R.S.G.M.; Claas, F.H.J.; Marinus, J.; van Hilten, J.J.; van den Maagdenberg, A.M.J.M.

    2012-01-01

    We previously showed evidence for a genetic association of the human leukocyte antigen (HLA) system and complex regional pain syndrome (CRPS) with dystonia. Involvement of the HLA system suggests that CRPS has a genetic component with perturbed regulation of inflammation and neuroplasticity as

  14. Fixed Dystonia in Complex Regional Pain Syndrome : A Descriptive and Computational Modeling Approach

    NARCIS (Netherlands)

    Munts, A.G.; Mugge, W.; Meurs, T.S.; Schouten, A.C.; Marinus, J.; Lorimer Moseley, G.; Van der Helm, F.C.T.; Van Hilten, J.J.

    2011-01-01

    Background: Complex regional pain syndrome (CRPS) may occur after trauma, usually to one limb, and is characterized by pain and disturbed blood flow, temperature regulation and motor control. Approximately 25% of cases develop fixed dystonia. Involvement of dysfunctional GABAergic interneurons has

  15. What are the determinants of quality of life in people with cervical dystonia?

    Science.gov (United States)

    Ben-Shlomo, Y; Camfield, L; Warner, T

    2002-05-01

    Little is known about the quality of life in patients with cervical dystonia, although pain and depression are relatively common. To test the hypothesis that an individual's ability to cope with the disease will modify the association of intrinsic, extrinsic, and disease related factors with quality of life. Patients with cervical dystonia diagnosed by a movement disorder specialist were recruited from seven European countries. Data on quality of life (SF-36), measures of coping, and intrinsic, extrinsic, and disease related factors were collected by a self completed postal questionnaire. 289 patients (101 men and 188 women), mean age 55 years, completed the questionnaire. Both physical and mental quality of life scores were predicted by self esteem and self deprecation, educational level, employment status, social support, response to botulinum toxin, disease severity, social participation, stigma, acceptance of illness, anxiety, and depression. In multivariable analyses, the strongest predictors were anxiety and depression. Severe depression was associated with a 19.1 point decrement in the physical summary score (95% confidence interval, -31.7 to -6.6; p = 0.003); however, disease duration and severity remained predictors. Care for patients with cervical dystonia must not only focus on reducing the severity of the dystonia but also on the psychological wellbeing of the patient. Interventions aimed at treating depression or anxiety, especially of a cognitive nature, may have a large impact on improving quality of life.

  16. Management of tongue and lip laceration due to dystonia in a 1-year-old infant

    Directory of Open Access Journals (Sweden)

    J P Beena

    2017-01-01

    Full Text Available This case report describes the management of tongue and lip lacerations due to dystonia in a 1-year-old infant. A splint was given to raise the bite and prevent repeated trauma and aid in healing of the oral tissue. This paper highlights the importance of pediatric dentist's role in improving quality of patient care in an intensive care unit.

  17. Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.

    NARCIS (Netherlands)

    Morava, E.; Steuerwald, U.; Carrozzo, R.; Kluijtmans, L.A.J.; Joensen, F.; Santer, R.; Dionisi-Vici, C.; Wevers, R.A.

    2009-01-01

    Patients with SUCLA2 gene defects characteristically develop the trias of early hypotonia, progressive dystonia and sensori-neural deafness. We describe the clinical course and biochemical phenotype in 16 children from the Faroe Islands with a homozygous SUCLA2 splice site mutation. Elevated urinary

  18. [Effects of an hydrotherapy program in the treatment of cervical dystonia. A pilot study].

    Science.gov (United States)

    Useros-Olmo, Ana Isabel; Collado-Vázquez, Susana

    2010-12-01

    Cervical dystonia may also cause limitation in articulation mobility and alteration of the balance, both accompanied with pain. AIM. To evaluate if hydrotherapy produces decrease of pain, increase in mobility and balance in patients diagnosed with cervical dystonia. A pre-post treatment pilot study was carried out without group control, with a sample of 16 patients (13 female and 3 male) diagnosed with cervical dystonia. The patients received an hydrotherapy treatment consisted of three individual sessions and three grupal sessions of aquatic exercises. In the pre-treatment phase the disability, severity and pain were evaluated by means of the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS); the balance was evaluated by means of the Get up and Go and Tinetti tests. In addition, the range of active mobility of the neck was measured with tape. The test were measured pre and post-treatment. The Student t showed a significant difference (p hydrotherapy can be related a positive influence in cervical dystonia, producing neck mobility and balance improvements and pain decrease. Future studies are necessary.

  19. Dystonia not dystopia: effects of the legal high, ‘Clockwork Orange’

    Science.gov (United States)

    Mackey, Helen Elizabeth; Hawksley, Oliver

    2015-01-01

    A 27-year-old man presented to hospital after smoking a legal high named ‘Clockwork Orange’. He suffered dystonia, acute kidney injury, rhabdomyolysis, lactic acidosis and a troponin rise. He was treated with procyclidine and intravenous fluids. PMID:26660763

  20. A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity.

    Science.gov (United States)

    Bressman, S B; Heiman, G A; Nygaard, T G; Ozelius, L J; Hunt, A L; Brin, M F; Gordon, M F; Moskowitz, C B; de Leon, D; Burke, R E

    1994-02-01

    A gene (DYT1) for idiopathic torsion dystonia (ITD) was mapped to chromosome 9q34 in non-Jewish and Jewish families; the dystonia in these families usually began in childhood, with the limb muscles affected first. The role of the DYT1 gene in adult-onset and cervical- or cranial-onset ITD is unknown. We examined 53 individuals from four generations of a non-Jewish North American family with adult-onset ITD. There were seven affected family members, with a mean age at onset of 28.4 years (range, 7 to 50 years). In six of the seven, the neck was affected first. All seven developed cervical dystonia, and dysarthria or dysphonia occurred in five. Linkage data excluded the region containing the DYT1 locus, indicating that DYT1 was not responsible for ITD in this family. This study provides evidence that a gene other than DYT1 is responsible for some cases of adult cervical-onset dystonia.

  1. Evaluation of the efficacy of deep brain stimulation in the surgical treatment of cervical dystonia.

    Science.gov (United States)

    Calheiros-Trigo, Francisca; Linhares, Paulo

    2014-01-01

    Deep brain stimulation (DBS) of the globus pallidus internus (GPi) is a promising therapeutic option for patients with medically refractory dystonia. We present the results after 1 year of DBS of the GPi in 4 patients with cervical dystonia. Four patients with medically refractory cervical dystonia who underwent stereotactic pallidal DBS surgery between June 2010 and November 2011 were included in this retrospective study. Preoperative and postoperative evaluations at 3, 6 and 12 months after surgery were performed using the Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS). The 4 patients experienced a sustained improvement, with a mean TWSTRS reduction of 74.25%, at 12 months follow-up. Disability improved by 80.5% (mean) at 1 year follow-up. No stimulation-related side effects were reported. Pallidal DBS is a valid and effective second-line treatment for patients with cervical focal dystonia. Our results support its use in patients with an insufficient response to medical treatment. Copyright © 2013 Sociedad Española de Neurocirugía. Published by Elsevier España. All rights reserved.

  2. Improvement of Isolated Myoclonus Phenotype in Myoclonus Dystonia after Pallidal Deep Brain Stimulation

    Directory of Open Access Journals (Sweden)

    Ritesh Ramdhani

    2016-03-01

    Full Text Available Background: Myoclonus–dystonia is a condition that manifests predominantly as myoclonic jerks with focal dystonia. It is genetically heterogeneous with most mutations in the epsilon sarcoglycan gene (SGCE. In medically refractory cases, deep brain stimulation (DBS has been shown to provide marked sustainable clinical improvement, especially in SGCE-positive patients. We present two patients with myoclonus–dystonia (one SGCE positive and the other SGCE negative who have the isolated myoclonus phenotype and had DBS leads implanted in the bilateral globus pallidus internus (GPi. Methods: We review their longitudinal Unified Myoclonus Rating Scale scores along with their DBS programming parameters and compare them with published cases in the literature. Results: Both patients demonstrated complete amelioration of all aspects of myoclonus within 6–12 months after surgery. The patient with the SGCE-negative mutation responded just as well as the patient who was SGCE positive. High-frequency stimulation (130 Hz with amplitudes greater than 2.5 V provided therapeutic benefit. Discussion: This case series demonstrates that high frequency GPi-DBS is effective in treating isolated myoclonus in myoclonus–dystonia, regardless of the presence of SGCE mutation.

  3. Integration of Sensory Force Feedback Is Disturbed in CRPS-Related Dystonia

    NARCIS (Netherlands)

    Mugge, W.; van der Helm, F.C.T.; Schouten, Alfred Christiaan

    2013-01-01

    Complex regional pain syndrome (CRPS) is characterized by pain and disturbed blood flow, temperature regulation and motor control. Approximately 25% of cases develop fixed dystonia. The origin of this movement disorder is poorly understood, although recent insights suggest involvement of disturbed

  4. Local field potentials and oscillatory activity of the internal globus pallidus in myoclonus-dystonia

    NARCIS (Netherlands)

    Foncke, Elisabeth M. J.; Bour, Lo J.; Speelman, Johannes D.; Koelman, Johannes H. T. M.; Tijssen, Marina A. J.

    2007-01-01

    The pathophysiology of myoclonus-dystonia (MD), an autosomal dominantly inherited movement disorder characterized by myoclonic jerks and dystonic contractions, is largely unknown. In the present study, local field potential (LFP) activities in the globus pallidus internus (GPi) from two genetically

  5. Dystonia in children and adolescents : a systematic review and a new diagnostic algorithm

    NARCIS (Netherlands)

    van Egmond, Martje E.; Kuiper, Anouk; Eggink, Hendriekje; Sinke, Richard J.; Brouwer, Oebele F.; Verschuuren - Bemelmans, Corien C.; Sival, Deborah A.; Tijssen, Marina A. J.; de Koning, Tom J.

    Early aetiological diagnosis is of paramount importance for childhood dystonia because some of the possible underlying conditions are treatable. Numerous genetic and non-genetic causes have been reported, and diagnostic workup is often challenging, time consuming and costly. Recently, a paradigm

  6. Randomised controlled trial of escitalopram for cervical dystonia with dystonic jerks/tremor

    NARCIS (Netherlands)

    Zoons, Evelien; Booij, Jan; Delnooz, Catherine C. S.; Dijk, Joke M.; Dreissen, Yasmine E. M.; Koelman, Johannes H. T. M.; van der Salm, Sandra M. A.; Skorvanek, Matej; Smit, Marenka; Aramideh, Majid; Bienfait, Henriette; Boon, Agnita J. W.; Brans, Jeroen W. M.; Hoogerwaard, Edo; Hovestadt, Ad; Kamphuis, Daan J.; Munts, Alexander G.; Speelman, Johannes D.; Tijssen, Marina A. J.

    2018-01-01

    Trials for additional or alternative treatments for cervical dystonia (CD) are scarce since the introduction of botulinum neurotoxin (BoNT). We performed the first trial to investigate whether dystonic jerks/tremor in patients with CD respond to the selective serotonin reuptake inhibitor (SSRI)

  7. Dystonia with aphonia, slow horizontal saccades, epilepsy and photic myoclonus: a novel syndrome?

    Science.gov (United States)

    Ganos, Christos; Biskup, Saskia; Krüger, Stefanie; Meyer-Osores, Aracelli; Hodecker, Sibylle; Hagel, Christian; Schöls, Ludger; Bhatia, Kailash P; Münchau, Alexander

    2014-03-01

    Dystonia with anarthria and/or aphonia is a rare syndromic association. Here we present two cases with slowly progressive, severe generalized dystonia and aphonia, slow horizontal saccades, epilepsy and photic myoclonus. Detailed clinical data were collected over two decades in the female (index) patient and for nine years in her similarly affected son. Sanger sequencing followed by exome sequencing was performed. Both patients had leg onset generalized dystonia with gradual rostral spread including prominent facial and oro-mandibular involvement. The index patient was anarthric, her son aphonic. Both had saccadic slowing, more marked for the horizontal plane, and subclinical epileptic activity. The index patient also had photic myoclonus and a combined axonal and demyelinating neuropathy. Known genetic causes of similar syndromes were not identified. These cases with caudo-rostrally spreading generalized dystonia with prominent facial and oro-mandibular involvement, severe speech impairment, marked slowing of horizontal saccades, and photic myoclonus likely represent a novel entity. Copyright © 2013 Elsevier Ltd. All rights reserved.

  8. A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

    NARCIS (Netherlands)

    Spruijt, L.; Smeets, H.J.M.; Hendrickx, A.; Bettink-Remeijer, M.W.; Maat-Kievit, A.; Schoonderwoerd, K.C.; Sluiter, W.; Coo, I.F.M. de; Hintzen, R.Q.

    2007-01-01

    OBJECTIVE: To report a novel mutation that is associated with Leber hereditary optic neuropathy (LHON) within the same family affected by spastic dystonia. DESIGN: Leber hereditary optic neuropathy is a mitochondrial disorder characterized by isolated central visual loss. Of patients with LHON, 95%

  9. Normalizing biased spatial attention with parietal rTMS in a patient with focal hand dystonia

    DEFF Research Database (Denmark)

    Ricci, Raffaella; Salatino, Adriana; Siebner, Hartwig R

    2014-01-01

    We report the following case to highlight the possible relevance of biased spatial attention in focal hand dystonia (FHD). Deficient sensorimotor inhibition is a prominent pathophysiological feature of FHD [1,2]. Low-frequency repetitive Trascranial Magnetic Stimulation (rTMS) over contralateral...

  10. Fixed Dystonia in Complex Regional Pain Syndrome: a Descriptive and Computational Modeling Approach

    Science.gov (United States)

    2011-01-01

    Background Complex regional pain syndrome (CRPS) may occur after trauma, usually to one limb, and is characterized by pain and disturbed blood flow, temperature regulation and motor control. Approximately 25% of cases develop fixed dystonia. Involvement of dysfunctional GABAergic interneurons has been suggested, however the mechanisms that underpin fixed dystonia are still unknown. We hypothesized that dystonia could be the result of aberrant proprioceptive reflex strengths of position, velocity or force feedback. Methods We systematically characterized the pattern of dystonia in 85 CRPS-patients with dystonia according to the posture held at each joint of the affected limb. We compared the patterns with a neuromuscular computer model simulating aberrations of proprioceptive reflexes. The computer model consists of an antagonistic muscle pair with explicit contributions of the musculotendinous system and reflex pathways originating from muscle spindles and Golgi tendon organs, with time delays reflective of neural latencies. Three scenarios were simulated with the model: (i) increased reflex sensitivity (increased sensitivity of the agonistic and antagonistic reflex loops); (ii) imbalanced reflex sensitivity (increased sensitivity of the agonistic reflex loop); (iii) imbalanced reflex offset (an offset to the reflex output of the agonistic proprioceptors). Results For the arm, fixed postures were present in 123 arms of 77 patients. The dominant pattern involved flexion of the fingers (116/123), the wrists (41/123) and elbows (38/123). For the leg, fixed postures were present in 114 legs of 77 patients. The dominant pattern was plantar flexion of the toes (55/114 legs), plantar flexion and inversion of the ankle (73/114) and flexion of the knee (55/114). Only the computer simulations of imbalanced reflex sensitivity to muscle force from Golgi tendon organs caused patterns that closely resembled the observed patient characteristics. In parallel experiments using

  11. Fixed Dystonia in Complex Regional Pain Syndrome: a Descriptive and Computational Modeling Approach

    Directory of Open Access Journals (Sweden)

    Moseley G Lorimer

    2011-05-01

    Full Text Available Abstract Background Complex regional pain syndrome (CRPS may occur after trauma, usually to one limb, and is characterized by pain and disturbed blood flow, temperature regulation and motor control. Approximately 25% of cases develop fixed dystonia. Involvement of dysfunctional GABAergic interneurons has been suggested, however the mechanisms that underpin fixed dystonia are still unknown. We hypothesized that dystonia could be the result of aberrant proprioceptive reflex strengths of position, velocity or force feedback. Methods We systematically characterized the pattern of dystonia in 85 CRPS-patients with dystonia according to the posture held at each joint of the affected limb. We compared the patterns with a neuromuscular computer model simulating aberrations of proprioceptive reflexes. The computer model consists of an antagonistic muscle pair with explicit contributions of the musculotendinous system and reflex pathways originating from muscle spindles and Golgi tendon organs, with time delays reflective of neural latencies. Three scenarios were simulated with the model: (i increased reflex sensitivity (increased sensitivity of the agonistic and antagonistic reflex loops; (ii imbalanced reflex sensitivity (increased sensitivity of the agonistic reflex loop; (iii imbalanced reflex offset (an offset to the reflex output of the agonistic proprioceptors. Results For the arm, fixed postures were present in 123 arms of 77 patients. The dominant pattern involved flexion of the fingers (116/123, the wrists (41/123 and elbows (38/123. For the leg, fixed postures were present in 114 legs of 77 patients. The dominant pattern was plantar flexion of the toes (55/114 legs, plantar flexion and inversion of the ankle (73/114 and flexion of the knee (55/114. Only the computer simulations of imbalanced reflex sensitivity to muscle force from Golgi tendon organs caused patterns that closely resembled the observed patient characteristics. In parallel

  12. Temporal discrimination threshold: VBM evidence for an endophenotype in adult onset primary torsion dystonia.

    LENUS (Irish Health Repository)

    Bradley, D

    2012-02-01

    Familial adult-onset primary torsion dystonia is an autosomal dominant disorder with markedly reduced penetrance. Most adult-onset primary torsion dystonia patients are sporadic cases. Disordered sensory processing is found in adult-onset primary torsion dystonia patients; if also present in their unaffected relatives this abnormality may indicate non-manifesting gene carriage. Temporal discrimination thresholds (TDTs) are abnormal in adult-onset primary torsion dystonia, but their utility as a possible endophenotype has not been examined. We examined 35 adult-onset primary torsion dystonia patients (17 familial, 18 sporadic), 42 unaffected first-degree relatives of both familial and sporadic adult-onset primary torsion dystonia patients, 32 unaffected second-degree relatives of familial adult-onset primary torsion dystonia (AOPTD) patients and 43 control subjects. TDT was measured using visual and tactile stimuli. In 33 unaffected relatives, voxel-based morphometry was used to compare putaminal volumes between relatives with abnormal and normal TDTs. The mean TDT in 26 control subjects under 50 years of age was 22.85 ms (SD 8.00; 95% CI: 19.62-26.09 ms). The mean TDT in 17 control subjects over 50 years was 30.87 ms (SD 5.48; 95% CI: 28.05-33.69 ms). The upper limit of normal, defined as control mean + 2.5 SD, was 42.86 ms in the under 50 years group and 44.58 ms in the over 50 years group. Thirty out of thirty-five (86%) AOPTD patients had abnormal TDTs with similar frequencies of abnormalities in sporadic and familial patients. Twenty-two out of forty-two (52%) unaffected first-degree relatives had abnormal TDTs with similar frequencies in relatives of sporadic and familial AOPTD patients. Abnormal TDTs were found in 16\\/32 (50%) of second-degree relatives. Voxel-based morphometry analysis comparing 13 unaffected relatives with abnormal TDTs and 20 with normal TDTs demonstrated a bilateral increase in putaminal grey matter in unaffected relatives with abnormal

  13. Deep Brain Stimulation for Parkinson's Disease

    Science.gov (United States)

    ... Home » Disorders » All Disorders Deep Brain Stimulation for Parkinson's Disease Information Page Deep Brain Stimulation for Parkinson's Disease Information Page What research is being done? The ...

  14. German registry of paediatric deep brain stimulation in patients with childhood-onset dystonia (GEPESTIM).

    Science.gov (United States)

    Koy, A; Weinsheimer, M; Pauls, K A M; Kühn, A A; Krause, P; Huebl, J; Schneider, G-H; Deuschl, G; Erasmi, R; Falk, D; Krauss, J K; Lütjens, G; Schnitzler, A; Wojtecki, L; Vesper, J; Korinthenberg, R; Coenen, V A; Visser-Vandewalle, V; Hellmich, M; Timmermann, L

    2017-01-01

    Data on paediatric deep brain stimulation (DBS) is limited, especially for long-term outcomes, because of small numbers in single center series and lack of systematic multi-center trials. We seek to systematically evaluate the clinical outcome of paediatric patients undergoing DBS. A German registry on paediatric DBS (GEPESTIM) was created to collect data of patients with dystonia undergoing DBS up to the age of 18 years. Patients were divided into three groups according to etiology (group 1 inherited, group 2 acquired, and group 3 idiopathic dystonia). Data of 44 patients with a mean age of 12.8 years at time of operation provided by 6 German centers could be documented in the registry so far (group 1 n = 18, group 2 n = 16, group 3 n = 10). Average absolute improvement after implantation was 15.5 ± 18.0 for 27 patients with pre- and postoperative Burke-Fahn-Marsden Dystonia Rating scale movement scores available (p expiry were necessary in 15 patients at 3.7 ± 1.8 years after last implantation. Pre- and postoperative data on paediatric DBS are very heterogeneous and incomplete but corroborate the positive effects of DBS on inherited and acquired dystonia. Adverse events including relatively frequent IPG replacements due to battery expiry seem to be a prominent feature of children with dystonia undergoing DBS. The registry enables collaborative research on DBS treatment in the paediatric population and to create standardized management algorithms in the future. Copyright © 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

  15. Striatal morphology correlates with sensory abnormalities in unaffected relatives of cervical dystonia patients.

    LENUS (Irish Health Repository)

    Walsh, Richard A

    2012-02-01

    Structural grey matter abnormalities have been described in adult-onset primary torsion dystonia (AOPTD). Altered spatial discrimination thresholds are found in familial and sporadic AOPTD and in some unaffected relatives who may be non-manifesting gene carriers. Our hypothesis was that a subset of unaffected relatives with abnormal spatial acuity would have associated structural abnormalities. Twenty-eight unaffected relatives of patients with familial cervical dystonia, 24 relatives of patients with sporadic cervical dystonia and 27 control subjects were recruited. Spatial discrimination thresholds (SDTs) were determined using a grating orientation task. High-resolution magnetic resonance imaging (MRI) images (1.5 T) were analysed using voxel-based morphometry. Unaffected familial relatives with abnormal SDTs had reduced caudate grey matter volume (GMV) bilaterally relative to those with normal SDTs (right Z = 3.45, left Z = 3.81), where there was a negative correlation between SDTs and GMV (r = -0.76, r(2) = 0.58, p < 0.0001). Familial relatives also had bilateral sensory cortical expansion relative to unrelated controls (right Z = 4.02, left Z = 3.79). Unaffected relatives of patients with sporadic cervical dystonia who had abnormal SDTs had reduced putaminal GMV bilaterally compared with those with normal SDTs (right Z = 3.96, left Z = 3.45). Sensory abnormalities in some unaffected relatives correlate with a striatal substrate and may be a marker of genetic susceptibility in these individuals. Further investigation of grey matter changes as a candidate endophenotype may assist future genetic studies of dystonia.

  16. Diffuse Decreased Gray Matter in Patients with Idiopathic Craniocervical Dystonia: a Voxel-Based Morphometry Study

    Directory of Open Access Journals (Sweden)

    Camila Callegari Piccinin

    2015-01-01

    Full Text Available Background: Recent studies have addressed the role of structures other than the basal ganglia in the pathophysiology of craniocervical dystonia. Neuroimaging studies have attempted to identify structural abnormalities in craniocervical dystonia but a clear pattern of alteration has not been established. We performed whole brain evaluation using voxel-based morphometry to identify patterns of gray matter changes in craniocervical dystonia.Methods: We compared 27 patients with craniocervical dystonia matched in age and gender to 54 healthy controls. Voxel-based morphometry was used to compare gray matter volumes. We created a two-sample t-test corrected for subjects’ age and we tested with a level of significance of p<0.001 and false discovery rate correction (p<0.05. Results: Voxel-based morphometry demonstrated significant reductions of gray matter using p<0.001 in the cerebellar vermis IV/V, bilaterally in the superior frontal gyrus, precuneus, anterior cingulate and paracingulate, insular cortex, lingual gyrus and calcarine fissure; in the left hemisphere in the supplemementary motor area (SMA, inferior frontal gyrus, inferior parietal gyrus, temporal pole, supramarginal gyrus, rolandic operculum , hippocampus, middle occipital gyrus, cerebellar lobules IV/V, superior and middle temporal gyri; in the right hemisphere, the middle cingulate and precentral gyrus. Our study did not report any significant result using the false discovery rate correction. We also detected correlations between gray matter volume and age, disease duration, duration of botulinum toxin treatment and the Marsden-Fahn dystonia scale scores.Conclusions: We detected large clusters of gray matter changes chiefly in structures primarily involved in sensorimotor integration, motor planning, visuospatial function and emotional processing.

  17. Disturbances of grip force behaviour in focal hand dystonia: evidence for a generalised impairment of sensory-motor integration?

    OpenAIRE

    Nowak, D.; Rosenkranz, K; Topka, H.; Rothwell, J

    2005-01-01

    Background: Focal task specific dystonia occurs preferentially during performance of a specific task. There may be an inefficiently high grip force when doing manipulative tasks other than the trigger task, possibly reflecting a generalised impairment of sensory-motor integration.

  18. Altered sensorimotor activation patterns in idiopathic dystonia-an activation likelihood estimation meta-analysis of functional brain imaging studies

    DEFF Research Database (Denmark)

    Løkkegaard, Annemette; Herz, Damian M; Haagensen, Brian Numelin

    2016-01-01

    using a range of sensorimotor tasks. Patients with dystonia showed bilateral increases in task-related activation in the parietal operculum and ventral postcentral gyrus as well as right middle temporal gyrus. Decreases in task-related activation converged in left supplementary motor area and left...... postcentral gyrus, right superior temporal gyrus and dorsal midbrain. Apart from the midbrain cluster, all between-group differences in task-related activity were retrieved in a sub-analysis including only the 14 studies on patients with focal dystonia. For focal dystonia, an additional cluster of increased...... sensorimotor activation emerged in the caudal cingulate motor zone. The results show that dystonia is consistently associated with abnormal somatosensory processing in the primary and secondary somatosensory cortex along with abnormal sensorimotor activation of mesial premotor and right lateral temporal cortex...

  19. Pramipexole. A review of its use in the management of early and advanced Parkinson's disease.

    Science.gov (United States)

    Dooley, M; Markham, A

    1998-06-01

    adverse events in pramipexole recipients with advanced disease were orthostatic hypotension, dyskinesias, extrapyramidal syndrome (defined as a worsening of the Parkinson's disease), dizziness, hallucinations, accidental injury, dream abnormalities, confusion, constipation, asthenia, somnolence, dystonia, gait abnormality, hypertonia, dry mouth, amnesia and urinary frequency. The incidence of some adverse events did not greatly differ between pramipexole and placebo recipients. Pramipexole is effective as adjunctive therapy to levodopa in patients with advanced Parkinson's disease. However, the potential beneficial effects of pramipexole on disease progression need to be confirmed in clinical studies. The efficacy of pramipexole monotherapy in patients with early disease has also been demonstrated, although the use of dopamine agonists in early Parkinson's disease remains controversial.

  20. Physical rehabilitation at Parkinson's

    OpenAIRE

    Мітько [Elena Mitko], Олена Володимирівна; Авраменко [Ol’ga Avramenko], Ольга Миколаївна; Дугіна [Liana Dugina], Ліана В'ячеславівна

    2013-01-01

    Questions touching a physical rehabilitation at Parkinson's disease are considered in the article. Modern data over are brought about etiopathogenesis, clinical flow of disease. Purpose of work – on the basis of analysis of modern scientific-methodical literature to describe the method of physical rehabilitation of patients sufferings illness of Parkinsona. Methods are researches, applied in-process: the analysis of literary sources and practical experience is accumulated by us at a robot wit...

  1. An Asian Patient with Myoclonus-Dystonia (DYT11) Responsive to Deep Brain Stimulation of the Globus Pallidus Internus

    OpenAIRE

    Akinori Uruha; Katsuo Kimura; Ryoichi Okiyama

    2014-01-01

    We describe the case of a 42-year-old Japanese woman with childhood-onset myoclonus, dystonia, and psychiatric symptoms, including anxiety, phobia, and exaggerated startle response. The diagnosis was confirmed as myoclonus-dystonia (DYT11) by identifying a mutation in the gene encoding ε -sarcoglycan. Interestingly, while motor-related symptoms in DYT11 generally improve with alcohol ingestion, the patient's symptoms were exacerbated by alcohol intake. Her severe and medically intractable sym...

  2. Update on diffusion MRI in Parkinson's disease and atypical parkinsonism

    NARCIS (Netherlands)

    Meijer, F.J.A.; Bloem, B.R.; Mahlknecht, P.; Seppi, K.; Goraj, B.

    2013-01-01

    Differentiating Parkinson's disease (PD) from other types of neurodegenerative atypical parkinsonism (AP) can be challenging, especially in early disease stages. Routine brain magnetic resonance imaging (MRI) can show atrophy or signal changes in several parts of the brain with fairly high

  3. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.

    NARCIS (Netherlands)

    Quadri, M.; Federico, A.; Zhao, T.; Breedveld, G.J.; Battisti, C.; Delnooz, C.; Severijnen, L.A.; Toro Mammarella, L. Di; Mignarri, A.; Monti, L.; Sanna, A.; Lu, P.; Punzo, F.; Cossu, G.; Willemsen, R.; Rasi, F.; Oostra, B.A.; Warrenburg, B.P.C. van de; Bonifati, V.

    2012-01-01

    Manganese is essential for several metabolic pathways but becomes toxic in excessive amounts. Manganese levels in the body are therefore tightly regulated, but the responsible protein(s) remain incompletely known. We studied two consanguineous families with neurologic disorders including

  4. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease

    NARCIS (Netherlands)

    M. Quadri (Marialuisa); A. Federico (Antonio); T. Zhao (Tianna); G.J. Breedveld (Guido); C. Battisti (Carla); C.C.S. Delnooz (Cathérine); E.A.W.F.M. Severijnen (Lies-Anne); L. Di Toro Mammarella (Lara); A. Mignarri (Andrea); L. Monti (Lucia); S. Sanna (Serena); P. Lu (Peng); F. Punzo (Francesca); G. Cossu (Giovanni); R. Willemsen (Rob); G. Rasi; B.A. Oostra (Ben); B. van de Warrenburg (Bart); V. Bonifati (Vincenzo)

    2012-01-01

    textabstractManganese is essential for several metabolic pathways but becomes toxic in excessive amounts. Manganese levels in the body are therefore tightly regulated, but the responsible protein(s) remain incompletely known. We studied two consanguineous families with neurologic disorders including

  5. Evaluation of the quality of life in patients with segmental dystonia

    Directory of Open Access Journals (Sweden)

    Basurović Nataša

    2012-01-01

    Full Text Available Background/Aim. Segmental dystonia is an abnormal movement, characterized by involuntary, sustained and repetitive muscular contractions, causing twisting and abnormal posturing of two or more adjacent body parts. It is not a life-reducing condition, but it deteriorates physical, mental and social functioning. The aim of the study was to define the basic demographic and clinical characteristics of patients with segmental dystonia and to estimate their quality of life. Methods. The study included patients treated at the Clinic for Neurology - Clinical Center of Serbia (Department for Involuntary Movements. The patients with idiopathic segmental dystonia fulfilled the following questionnaires: general questionnaire, standard questionnaire for estimation of the quality of life SF 36, a list of questionnaires related to disease, and social participation scales. Statistical analysis involving the methods of descriptive statistics and linear regression analysis was used for predictive values of the characteristics. Results. The study included 28 patients with segmental dystonia, the mean age of 53.1 ± 15.8 years. Analysis of SF 36 questionnaire item domains showed that patients with segmental dystonia had the lowest score in the domain of body pain (30.6 ± 28.2 and the highest in the domain of physical function (73.6 ± 19.6. Higher values of the scale of the disease severity (β= -0.526, 95% CI -4.719, -0.996; p = 0.0004 and Hamilton depression scale (β= - 0.498, 95% CI -1.295, -0.227; p = 0.0007 were more significant predictors of low quality of life. Higher value of the Leisure activities scale (β= 0.611, 95% CI 0.242, 0.772; p = 0.001 was a significant predictor of better quality of life. Conclusion. The most important predictors of low quality of life in patients with segmental dystonia were disease severity, low acceptance of illness, depression and low self-esteem. [Projekat Ministarstva nauke Republike Srbije, br. 175090 and 175087

  6. Brain MRI in Parkinson's disease

    NARCIS (Netherlands)

    Meijer, F.J.A.; Goraj, B.M.

    2014-01-01

    In this review article, conventional brain MRI and advanced MRI techniques in Parkinson`s disease (PD) are discussed, with emphasis on clinical relevance. Conventional brain MRI sequences generally demonstrate limited abnormalities specific for PD and in clinical practice brain MRI is mainly used to

  7. Respiratory dysfunction in Parkinson's disease.

    Science.gov (United States)

    Torsney, K M; Forsyth, D

    2017-03-01

    Respiratory dysfunction has been associated with Parkinson's disease since it was first described in 1817. The respiratory symptoms observed in Parkinson's disease patients vary greatly. Most patients remain asymptomatic, whereas others present with acute shortness of breath and even stridor. In August 2016, an electronic literature search was conducted using PubMed and Google Scholar. Results were screened and studies reporting on respiratory dysfunction associated with Parkinson's disease were included. Respiratory dysfunction is due to a combination of factors including restrictive changes, upper airway obstruction, abnormal ventilatory drive and response to medications. Much debate surrounds the mechanism underlying respiratory dysfunction in Parkinson's disease, its prevalence and the effect of levodopa on respiration. It is clear from this review that larger studies, comparing patients of similar disease duration and severity using the same pulmonary function parameters, are required to provide a better understanding of the pathophysiology underlying respiratory dysfunction in Parkinson's disease.

  8. All in the blink of an eye: new insight into cerebellar and brainstem function in DYT1 and DYT6 dystonia.

    Science.gov (United States)

    Sadnicka, A; Teo, J T; Kojovic, M; Pareés, I; Saifee, T A; Kassavetis, P; Schwingenschuh, P; Katschnig-Winter, P; Stamelou, M; Mencacci, N E; Rothwell, J C; Edwards, M J; Bhatia, K P

    2015-05-01

    Traditionally dystonia has been considered a disorder of basal ganglia dysfunction. However, recent research has advocated a more complex neuroanatomical network. In particular, there is increasing interest in the pathophysiological role of the cerebellum. Patients with cervical and focal hand dystonia have impaired cerebellar associative learning using the paradigm eyeblink conditioning. This is perhaps the most direct evidence to date that the cerebellum is implicated in patients. Eleven patients with DYT1 dystonia and five patients with DYT6 dystonia were examined and rates of eyeblink conditioning were compared with age-matched controls. A marker of brainstem excitability, the blink reflex recovery, was also studied in the same groups. Patients with DYT1 and DYT6 dystonia have a normal ability to acquire conditioned responses. Blink reflex recovery was enhanced in DYT1 but this effect was not seen in DYT6. If the cerebellum is an important driver in DYT1 and DYT6 dystonia our data suggest that there is specific cerebellar dysfunction such that the circuits essential for conditioning function normally. Our data are contrary to observations in focal dystonia and suggest that the cerebellum may have a distinct role in different subsets of dystonia. Evidence of enhanced blink reflex recovery in all patients with dystonia was not found and recent studies calling for the blink recovery reflex to be used as a diagnostic test for dystonic tremor may require further corroboration. © 2014 The Author(s) European Journal of Neurology © 2014 EAN.

  9. Contribution of TMS and rTMS in the Understanding of the Pathophysiology and in the Treatment of Dystonia.

    Science.gov (United States)

    Lozeron, Pierre; Poujois, Aurélia; Richard, Alexandra; Masmoudi, Sana; Meppiel, Elodie; Woimant, France; Kubis, Nathalie

    2016-01-01

    Dystonias represent a heterogeneous group of movement disorders responsible for sustained muscle contraction, abnormal postures, and muscle twists. It can affect focal or segmental body parts or be generalized. Primary dystonia is the most common form of dystonia but it can also be secondary to metabolic or structural dysfunction, the consequence of a drug's side-effect or of genetic origin. The pathophysiology is still not elucidated. Based on lesion studies, dystonia has been regarded as a pure motor dysfunction of the basal ganglia loop. However, basal ganglia lesions do not consistently produce dystonia and lesions outside basal ganglia can lead to dystonia; mild sensory abnormalities have been reported in the dystonic limb and imaging studies have shown involvement of multiple other brain regions including the cerebellum and the cerebral motor, premotor and sensorimotor cortices. Transcranial magnetic stimulation (TMS) is a non-invasive technique of brain stimulation with a magnetic field applied over the cortex allowing investigation of cortical excitability. Hyperexcitability of contralateral motor cortex has been suggested to be the trigger of focal dystonia. High or low frequency repetitive TMS (rTMS) can induce excitatory or inhibitory lasting effects beyond the time of stimulation and protocols have been developed having either a positive or a negative effect on cortical excitability and associated with prevention of cell death, γ-aminobutyric acid (GABA) interneurons mediated inhibition and brain-derived neurotrophic factor modulation. rTMS studies as a therapeutic strategy of dystonia have been conducted to modulate the cerebral areas involved in the disease. Especially, when applied on the contralateral (pre)-motor cortex or supplementary motor area of brains of small cohorts of dystonic patients, rTMS has shown a beneficial transient clinical effect in association with restrained motor cortex excitability. TMS is currently a valuable tool to improve

  10. Local field potential oscillations of the globus pallidus in cervical and tardive dystonia.

    Science.gov (United States)

    Trenado, Carlos; Hartmann, Christian J; Elben, Saskia; Pauls, K Amande M; Friggemann, Lena; Groiss, Stefan Jun; Timmermann, Lars; Vesper, Jan; Schnitzler, Alfons; Wojtecki, Lars

    2016-07-15

    Reports about neural oscillatory activity in the globus pallidus internus (GPi) have targeted general (GD) and cervical dystonia (CD), however to our knowledge they are nonexistent for tardive dystonia (TD). Local field potentials (LFPs) from seven CD and five TD patients were recorded intraoperatively. We compared LFP power in thetadelta, alpha and beta band during rest and sensory palmar stimulation (SPS) in patients with general anesthesia and local/analgo sedation. We found prominent LFP power activity in thetadelta for both CD and TD. Unlike TD, a significant difference between rest and SPS was revealed for CD. Our data support the presence of LFP oscillatory activity in CD and TD. Thetadelta power modulation in the GPi is suggested as a signature for sensory processing in CD. Copyright © 2016 Elsevier B.V. All rights reserved.

  11. The range and nature of sleep dysfunction in untreated Parkinson's disease (PD). A comparative controlled clinical study using the Parkinson's disease sleep scale and selective polysomnography.

    Science.gov (United States)

    Dhawan, V; Dhoat, S; Williams, A J; Dimarco, A; Pal, S; Forbes, A; Tobías, A; Martinez-Martin, P; Chaudhuri, K Ray

    2006-10-25

    In this study we have explored the nature and range of sleep dysfunction that occurs in untreated Parkinson's disease (PD) comparing data obtained from the use of the Parkinson's disease sleep scale (PDSS) in an untreated PD patient group compared to advanced PD and healthy controls. 25 untreated (drug-naive, DNPD) PD patients (mean age 66.9 years, range 53-80, 18 males) completed the validated Parkinson's disease sleep scale (PDSS), mean duration of PD was 2.1 years (1-10, up to 4 years in all except one patient with tremulous PD reporting tremor duration of 10 years) and mean Hoehn and Yahr score 1.9 (1-3). Data were compared to 34 advanced PD (mean age 70.2 years, range 51-88, 23 male), mean duration of PD 11 years (range 4-22), mean Hoehn and Yahr score 3.4 (3-5) and PDSS data obtained from 131 healthy controls (mean age 66.6 years, range 50-93, 56 males). Total PDSS scores and PDSS sub-items, except PDSS item 2, were highly significantly different (pHoehn and Yahr score 2.5, range=1-3) with high Epworth Sleepiness Scale (ESS) scores (mean 14.5), low item 15 PDSS score (mean 4.7) and complaints of severe daytime sleepiness, underwent detailed overnight polysomnography (PSG) studies, all showing abnormal sleep patterns. We conclude that nocturia, nighttime cramps, dystonia, tremor and daytime somnolence seem to be the important nocturnal disabilities in DNPD and some of these symptoms may be reminiscent of "off" period related symptoms even though patients are untreated. Furthermore, polysomnography in "sleepy" PD patients may help diagnose unrecognised conditions such as periodic limb movement of sleep (PLMS), obstructive sleep apnoea (OSA) and REM Sleep Behaviour Disorder.

  12. Myoclonic occipital photosensitive epilepsy with dystonia (MOPED): A familial epilepsy syndrome.

    Science.gov (United States)

    Sadleir, Lynette G; Paterson, Sarah; Smith, Katherine R; Redshaw, Natalie; Ranta, Annemarei; Kalnins, Renate; Berkovic, Samuel F; Bahlo, Melanie; Hildebrand, Michael S; Scheffer, Ingrid E

    2015-08-01

    To describe clinical and EEG phenotypes of a family with an unusual familial epilepsy syndrome characterized by myoclonus and dystonia. Family members underwent electroclinical phenotyping including review of EEGs and MRI. DNA from family members was genotyped using Illumina OmniExpress genotyping arrays. Parametric and nonparametric linkage analyses were performed using MERLIN. The disorder followed autosomal dominant (AD) inheritance and affected seven individuals over two generations. Seizures began at a mean of 14.5 years. Six individuals had spontaneous myoclonic seizures, of which five also had photic-induced myoclonus and four had photic-induced occipital seizures. Six individuals had convulsive seizures; generalized in two and focal in four. Photosensitivity was prominent with generalized spike wave and polyspike wave in four individuals of which two also had occipital spikes. MRI scans were normal in the four individuals tested. Extensive metabolic investigation was normal. Juvenile myoclonic epilepsy (JME) occurred in two; and JME overlapping with idiopathic photosensitive epilepsy (IPOE) in four individuals. All three affected males had a more severe disorder than the four affected females. Two males had a progressive neurological disorder with progressive myoclonus epilepsy and deterioration in their early 30s. They developed episodes of paroxysmal cervical dystonia with cognitive decline during periods of poor seizure control. One plateaued after years of poor seizure control but remained intractable with periods of deterioration. The other deteriorated with episodes of status dystonicus and status epilepticus, ataxia and a progressive ophthalmoplegia before succumbing at 38 years. Parametric linkage analysis identified three peaks achieving a maximum LOD score of 1.21. Nonparametric analysis identified eight peaks achieving LOD scores above 0.80. These were not statistically significant. This is a novel autosomal dominant familial epilepsy syndrome

  13. Alteration in forward model prediction of sensory outcome of motor action in Focal Hand Dystonia

    Directory of Open Access Journals (Sweden)

    André eLee

    2013-07-01

    Full Text Available Focal hand dystonia in musicians is a movement disorder affecting highly trained movements. Rather than being a pure motor disorder related to movement execution only, movement planning, error prediction and sensorimotor integration are also impaired. Internal models, of which two types, forward and inverse models have been described and most likely processed in the cerebellum, are known to be involved in these tasks. Recent results indicate that the cerebellum may be involved in the pathophysiology of focal dystonia. Thus the aim of our study was to investigate whether an internal model deficit plays a role in focal dystonia. We focused on the forward model, which predicts sensory consequences of motor commands and allows the discrimination between external sensory input and input deriving from motor action. We investigated 19 patients, aged 19-59 and 19 healthy musicians aged 19-36 as controls. Tactile stimuli were applied to fingers II–V of both hands by the experimenter or the patient. After each stimulus the participant rated the stimulus-intensity on a scale between 0 (no sensation and 1 (maximal intensity. The difference of perceived intensity between self- & externally applied stimuli was then calculated for each finger. For assessing differences between patients and controls we performed a cluster analysis of the affected hand and the corresponding hand of the controls using the fingers II–V as variables in a 4-dimensional hyperspace (chance level=0.5. Using a cluster analysis, we found a correct classification of the affected finger in 78,9%-94.7%. There was no difference between patients and healthy controls of the absolute value of the perceived stimulus intensity. Our results suggest an altered forward model function in focal hand dystonia. It has the potential of suggesting a neural correlate within the cerebellum and of helping integrate findings with regard to altered sensorimotor processing and altered prediction in FD in a

  14. Creation of a Mouse with Stress-Induced Dystonia: Control of an ATPase Chaperone

    Science.gov (United States)

    2013-04-01

    symptoms, as also seen in writer’s cramp, a focal dystonia. 8 Electromyography ( EMG ) recordings were made with collaborator Dr. Johnny Salameh...velocity measures the integrity of large diameter myelinated axons, normal range 50-100 m/sec, and neuropathy would typically give readings of ណ m...cause the mice to stay at the edge. Fig. 2. Co-contraction of opposing muscles. 2-electrode EMG recordings Fig. 3. Equivalent activity despite

  15. Evaluation of AZD1446 as a Therapeutic in DYT1 Dystonia

    Directory of Open Access Journals (Sweden)

    Chelsea N. Zimmerman

    2017-06-01

    Full Text Available DYT1 dystonia is an early-onset, hyperkinetic movement disorder caused by a deletion in the gene TOR1A, which encodes the protein torsinA. Several lines of evidence show that in animal models of DTY1 dystonia, there is impaired basal dopamine (DA release and enhanced acetylcholine tone. Clinically, anticholinergic drugs are the most effective pharmacological treatment for DYT1 dystonia, but the currently used agents are non-selective muscarinic antagonists and associated with side effects. We used a DYT1 ∆GAG knock-in mouse model (DYT1 KI to investigate whether nicotine and/or a non-desensitizing nicotinic agonist, AZD1446, would increase DA output in DYT1 dystonia. Using in vivo microdialysis, we found that DYT1 KI mice showed significantly increased DA output and greater sensitivity to nicotine compared to wild type (WT littermate controls. In contrast, neither systemic injection (0.25–0.75 mg/kg or intrastriatal infusion (30 μM–1 mM of AZD1446 had a significant effect on DA efflux in WT or DYT1 KI mice. In vitro, we found that AZD1446 had no effect on the membrane properties of striatal spiny projection neurons (SPNs and did not alter the spontaneous firing of ChI interneurons in either WT or DYT1 KI mice. We did observe that the firing frequency of dopaminergic neurons was significantly increased by AZD1446 (10 μM, an effect blocked by dihydro-beta-erythroidine (DHβE 3 μM, but the effect was similar in WT and DYT1 KI mice. Our results support the view that DYT1 models are associated with abnormal striatal cholinergic transmission, and that the DYT1 KI animals have enhanced sensitivity to nicotine. We found little effect of AZD1446 in this model, suggesting that other approaches to nicotinic modulation should be explored.

  16. Phenomenology, genetics, and CNS network abnormalities in laryngeal dystonia: A 30-year experience.

    Science.gov (United States)

    Blitzer, Andrew; Brin, Mitchell F; Simonyan, Kristina; Ozelius, Laurie J; Frucht, Steven J

    2018-01-01

    Laryngeal dystonia (LD) is a functionally specific disorder of the afferent-efferent motor coordination system producing action-induced muscle contraction with a varied phenomenology. This report of long-term studies aims to review and better define the phenomenology and central nervous system abnormalities of this disorder and improve diagnosis and treatment. Our studies categorized over 1,400 patients diagnosed with LD over the past 33 years, including demographic and medical history records and their phenomenological presentations. Patients were grouped on clinical phenotype (adductor or abductor) and genotype (sporadic and familial) and with DNA analysis and functional magnetic resonance imaging (fMRI) to investigate brain organization differences and characterize neural markers for genotype/phenotype categorization. A number of patients with alcohol-sensitive dystonia were also studied. A spectrum of LD phenomena evolved: adductor, abductor, mixed, singer's, dystonic tremor, and adductor respiratory dystonia. Patients were genetically screened for DYT (dystonia) 1, DYT4, DYT6, and DYT25 (GNAL)-and several were positive. The functional MRI studies showed distinct alterations within the sensorimotor network, and the LD patients with a family history had distinct cortical and cerebellar abnormalities. A linear discriminant analysis of fMRI findings showed a 71% accuracy in characterizing LD from normal and in characterizing adductor from abductor forms. Continuous studies of LD patients over 30 years has led to an improved understanding of the phenomenological characteristics of this neurological disorder. Genetic and fMRI studies have better characterized the disorder and raise the possibility of making objective rather than subjective diagnoses, potentially leading to new therapeutic approaches. Laryngoscope, 128:S1-S9, 2018. © 2017 The American Laryngological, Rhinological and Otological Society, Inc.

  17. Rehabilitation in Parkinson Disease

    OpenAIRE

    Dobosiewicz, Anna Maria; Chyba, Piotr; Duda, Grzegorz; Jankiewicz, Małgorzata; Puszcz, Karolina; Zmaczyńska, Teresa

    2017-01-01

    Dobosiewicz Anna Maria, Chyba Piotr, Duda Grzegorz, Jankiewicz Małgorzata, Puszcz Karolina, Zmaczyńska Teresa. Rehabilitation in Parkinson Disease. Journal of Education, Health and Sport. 2017;7(6):244-264. eISSN 2391-8306. DOI http://dx.doi.org/10.5281/zenodo.804633 http://ojs.ukw.edu.pl/index.php/johs/article/view/4531         The journal has had 7 points in Ministry of Science and Higher Education parametric evaluation. Part B item 1223 (26.01.2017). 1223 Journa...

  18. Chloroquine induced parkinsonism.

    Directory of Open Access Journals (Sweden)

    Parmar R

    2000-01-01

    Full Text Available A case of parkinsonism is reported in a 5-years-old male child following prolonged use of chloroquine. The patient presented with reduced spontaneous movements and speech with an expressionless face and a parkinsonian gait but no tremors. His investigations including CT scan brain, CSF study and serum ceruloplasmin were normal. Chloroquine was discontinued and the patient was started on oral trihexyphenidyl. The patient showed gradual recovery and the drug was successfully withdrawn. The toxic manifestations were only transient and reversible.

  19. [A family of hereditary spastic paraplegia with dementia, ataxia, and dystonia].

    Science.gov (United States)

    Maruta, K; Kondo, I

    2001-10-01

    We reported three siblings with complicated hereditary spastic paraplegia. The striking features in these patients were characterized by early onset of gait disturbance, mental deficiency, and dystonia. The most likely diagnosis was Mast syndrome. Patient 1: A 44 years-old woman. She first developed gait disturbances at age of 8. She was admitted in our hospital because of progressive spastic paraplegia. Neurological examination revealed mental deficiency, saccadic pursuit eye movement, speech disturbance of cerebellar type, ataxia, and spastic paraplegia. She showed also dystonia in the face, tongue, and trunk. MRI showed cerebellar atrophy. Patient 2: A 51 years-old brother of the patient 1. He had mentally retarded. Late teens he developed gait disturbance. Gradually he manifested spastic paraplegia, dysarthria, dysphasia, mental deficiency, and ataxia. He also showed incontinence of urine and feces. Then he became bedridden, apathetic, and showed forced crying. MRI showed diffuse brain atrophy. Patient 3: A 48 year-old woman. This woman, a sister of the patient 1, showed progressive gait disturbance and dysarthria. She also developed incontinence, apathy, and dystonia. She became bedridden, responding to simple questions with only occasional single-word answers. Her speech was slurred, and spastic paraplegia was noted. MRI showed diffuse brain atrophy including marked atrophy of the cerebellum.

  20. Botulinum toxin A for patients with orofacial dystonia: prospective, observational, single-centre study.

    Science.gov (United States)

    Ruiz-de-León-Hernández, G; Díaz-Sánchez, R-M; Torres-Lagares, D; Hernández-Pacheco, E; González-Martín, M; Serrera-Figallo, M-A

    2018-03-01

    The objective of this study was to demonstrate the efficacy of intramuscular botulinum toxin type A (BTX-A) as a method of controlling the symptoms of focal facial dystonia. A prospective, longitudinal, observational, pre-post (case-series) single-centre study was conducted over a period of 3 months, involving 30 patients with focal dystonia. The patients were enrolled on a first-come, first-served basis. For all patients, the abnormal movements were evaluated using the Abnormal Involuntary Movement Scale (AIMS). The AIMS results were recorded immediately before BTX-A injection (primary predictor variable) and after 3 months (the toxin reaches its maximum effect 2 weeks after injection, and the effect is maintained for 3 months). An improvement in AIMS score was the primary outcome variable. Treatment efficacy was evaluated using the Pearson correlation index with a level of significance of P<0.05. The average age of the study subjects was 70.9±12.7years (20 female, 10 male). The mean dose of BTX-A used was 27.4±20.5U. The mean improvement in AIMS score after treatment was 5.2±4.2. A significant correlation was found between the dose applied and the reduction in AIMS score (P<0.05). BTX-A can be used in the treatment of focal dystonia and provides reproducible results. Copyright © 2017 International Association of Oral and Maxillofacial Surgeons. Published by Elsevier Ltd. All rights reserved.

  1. Untethering the Nuclear Envelope and Cytoskeleton: Biologically Distinct Dystonias Arising from a Common Cellular Dysfunction

    Directory of Open Access Journals (Sweden)

    Nadia A. Atai

    2012-01-01

    Full Text Available Most cases of early onset DYT1 dystonia in humans are caused by a GAG deletion in the TOR1A gene leading to loss of a glutamic acid (ΔE in the torsinA protein, which underlies a movement disorder associated with neuronal dysfunction without apparent neurodegeneration. Mutation/deletion of the gene (Dst encoding dystonin in mice results in a dystonic movement disorder termed dystonia musculorum, which resembles aspects of dystonia in humans. While torsinA and dystonin proteins do not share modular domain architecture, they participate in a similar function by modulating a structural link between the nuclear envelope and the cytoskeleton in neuronal cells. We suggest that through a shared interaction with the nuclear envelope protein nesprin-3α, torsinA and the neuronal dystonin-a2 isoform comprise a bridge complex between the outer nuclear membrane and the cytoskeleton, which is critical for some aspects of neuronal development and function. Elucidation of the overlapping roles of torsinA and dystonin-a2 in nuclear/endoplasmic reticulum dynamics should provide insights into the cellular mechanisms underlying the dystonic phenotype.

  2. Multiday Transcranial Direct Current Stimulation Causes Clinically Insignificant Changes in Childhood Dystonia: A Pilot Study.

    Science.gov (United States)

    Bhanpuri, Nasir H; Bertucco, Matteo; Young, Scott J; Lee, Annie A; Sanger, Terence D

    2015-10-01

    Abnormal motor cortex activity is common in dystonia. Cathodal transcranial direct current stimulation may alter cortical activity by decreasing excitability while anodal stimulation may increase motor learning. Previous results showed that a single session of cathodal transcranial direct current stimulation can improve symptoms in childhood dystonia. Here we performed a 5-day, sham-controlled, double-blind, crossover study, where we measured tracking and muscle overflow in a myocontrol-based task. We applied cathodal and anodal transcranial direct current stimulation (2 mA, 9 minutes per day). For cathodal transcranial direct current stimulation (7 participants), 3 subjects showed improvements whereas 2 showed worsening in overflow or tracking error. The effect size was small (about 1% of maximum voluntary contraction) and not clinically meaningful. For anodal transcranial direct current stimulation (6 participants), none showed improvement, whereas 5 showed worsening. Thus, multiday cathodal transcranial direct current stimulation reduced symptoms in some children but not to a clinically meaningful extent, whereas anodal transcranial direct current stimulation worsened symptoms. Our results do not support transcranial direct current stimulation as clinically viable for treating childhood dystonia. © The Author(s) 2015.

  3. Interhemispheric difference of pallidal local field potential activity in cervical dystonia.

    Science.gov (United States)

    Lee, Jung Ryun; Kiss, Zelma H T

    2014-03-01

    Cervical dystonia (CD) produces involuntary neck muscle contractions that result in abnormal and often asymmetrical postures of the head and neck. Basal ganglia oscillatory activity in the 3-12 Hz band correlating with involuntary muscle activity suggests a role in the pathophysiology of primary dystonia. Despite the asymmetrical postures seen with CD, no comparison of interhemispheric differences of pallidal local field potential (LFP) activity has been reported. The aim of this study was to examine the interhemispheric differences of LFP power in globus pallidus interna (GPi) in CD patients and compare these with their predominant head excursion identified as torticollis, laterocollis and retrocollis. LFPs were recorded from bilateral GPi in 11 patients with CD using microelectrodes during deep brain stimulation surgery. LFP power was measured in right and left GPi separately. The mean percentage of total GPi LFP power in 4-30 Hz frequency band on each brain side was determined and related to their predominant CD symptoms. Interhemispheric difference in the mean percentage of LFP power in 4-12 Hz and 13-30 Hz band frequencies was found in patients with torticollis and laterocollis regardless of excursion direction. However, patients with retrocollis did not show interhemispheric difference in LFP activity in any band frequency. Interhemispheric differences in synchronisation of pallidal LFP activity in 4-12 Hz and 13-30 Hz bands are related to the CD clinical condition, suggesting that these frequencies are important in the pathophysiology of dystonia.

  4. The effect of fatigue on abnormal vibration induced illusion of movement in idiopathic focal dystonia.

    Science.gov (United States)

    Frima, N; Rome, S M; Grünewald, R A

    2003-08-01

    Perception of vibration induced illusionary movement (VIIM) is subnormal in dystonic patients, suggesting abnormal sensory-motor processing in patients with idiopathic focal dystonia. To examine the effects of fatigue on VIIM in patients with idiopathic torticollis. An illusionary sensation of arm extension was evoked by an 80 Hz transcutaneous vibratory stimulus applied to the biceps brachii tendon while the arm was restrained. Blindfolded patients attempted to copy the perceived movement of the vibrated arm with the opposite (tracking) arm and the change in elbow angle of the tracking arm was quantified over 45 seconds. The tasks were repeated following volitional fatigue of the vibrated arm. The subnormal perception of VIIM perceived by patients with torticollis, occurring bilaterally and remote from the location of dystonic symptoms, was corrected by fatigue of the vibrated arm compared with prefatigue values (mean (SEM): 19.04 degrees (1.76) degrees v 24.25 degrees (2.41 degrees ); p = 0.01, paired t test). While a combination of central or peripheral factors may be involved in the correction of abnormal perception of the vibration induced illusion of movement in dystonia, subnormal elasticity of muscle spindles could be implicated in the impaired perception of vibration induced illusionary movement and may predispose an individual towards developing idiopathic focal dystonia.

  5. Relationship between manual dexterity and the unified parkinson?s disease rating scale-motor exam

    OpenAIRE

    Hwang, Sujin; Song, Chiang-Soon

    2016-01-01

    [Purpose] The purpose of this study was to examine the relationships between manual dexterity and the Unified Parkinson?s Disease Rating Scale-Motor Exam as a clinical tool for quantifying upper extremity function in persons with Parkinson?s disease. [Subjects and Methods] Thirty-two persons with idiopathic Parkinson?s disease participated in this study. This study measured two clinical outcomes, the box-and-block test and the Unified Parkinson?s Disease Rating Scale-Motor Exam, to investigat...

  6. Persistent changes of corticostriatal plasticity in dt(sz) mutant hamsters after age-dependent remission of dystonia.

    Science.gov (United States)

    Avchalumov, Y; Volkmann, C E; Rückborn, K; Hamann, M; Kirschstein, T; Richter, A; Köhling, R

    2013-10-10

    Abnormal plasticity in the cortico-basal ganglia-thalamocortical loop has been suggested to represent a key factor in the pathophysiology of dystonia. In a model of primary paroxysmal dystonia, the dt(sz) mutant hamster, previous experiments have shown a strongly increased long-term potentiation (LTP) in comparison to non-dystonic control hamsters. These basal changes, i.e. in the absence of dystonia, were found in young animals at an age of 5 weeks, when the age-dependent dystonia in dt(sz) mutant reaches highest severity. In the present study we examined in corticostriatal slices (1) whether the increases in synaptic plasticity can be modulated by stressful stimuli which induce dystonic episodes in young mutant hamsters, and (2) whether increases of LTP persist after spontaneous remission of dystonia in animals older than 10 weeks. The present data show that in slices of young mutant hamsters the extent of LTP was not influenced by the presence of dystonia: In comparison to age-matched control hamsters, LTP was increased in mutant hamsters independent of preceding stressful stimulation. After remission of dystonia, i.e., in older dt(sz) mutant hamsters >10 weeks, only LTP could be elicited, while in preparations from age-matched control hamsters, either LTP or long-term depression developed, depending on previous behavioral challenge. We conclude that in mature brain, corticostriatal connections have the potential for changes in metaplasticity, while in dt(sz) mutant hamsters this metaplasticity is persistently infringed even though stress-inducible dystonic symptoms are lost. Copyright © 2013 IBRO. Published by Elsevier Ltd. All rights reserved.

  7. Parkinson's Disease and Cognitive Impairment.

    Science.gov (United States)

    Yang, Yang; Tang, Bei-Sha; Guo, Ji-Feng

    2016-01-01

    Parkinson's disease (PD) is a progressive neurodegenerative disease primarily characterized by the hallmarks of motor symptoms, such as tremor, bradykinesia, rigidity, and postural instability. However, through clinical investigations in patients and experimental findings in animal models of Parkinson's disease for years, it is now well recognized that Parkinson's disease is more than just a motor-deficit disorder. The majority of Parkinson's disease patients suffer from nonmotor disabilities, for instance, cognitive impairment, autonomic dysfunction, sensory dysfunction, and sleep disorder. So far, anti-PD prescriptions and surgical treatments have been mainly focusing on motor dysfunctions, leaving cognitive impairment a marginal clinical field. Within the nonmotor symptoms, cognitive impairment is one of the most common and significant aspects of Parkinson's disease, and cognitive deficits such as dysexecutive syndrome and visuospatial disturbances could seriously affect the quality of life, reduce life expectancy, prolong the duration of hospitalization, and therefore increase burdens of caregiver and medical costs. In this review, we have done a retrospective study of the recent related researches on epidemiology, clinical manifestation and diagnosis, genetics, and potential treatment of cognitive deficits in Parkinson's disease, aiming to provide a summary of cognitive impairment in Parkinson's disease and make it easy for clinicians to tackle this challenging issue in their future practice.

  8. [The indication of DBS in Parkinson' disease (from a neurological standpoint)].

    Science.gov (United States)

    Yamada, Hitoshi

    2012-01-01

    Deep brain stimulation of subthalamic nucleus (STN-DBS) is currently the most common therapeutic surgical treatment for patients with Parkinson's disease (PD) who have failed medical management. The percentage improvement in Unified Parkinson's disease Rating Scale (UPDRS) part II (activities of daily living) and III (motor) scores was more than 50%. Furthermore, levodopa-induced dyskinesias are dramatically improved because STN stimulation permits an approximately 50% reduction in antiparkinsonian treatment. How should we decide an appropriate candidate for DBS? It seems that there is a little difference about indication of DBS between neurosurgeons and neurologists. Since the efficacy of DBS is the improvement in dopaminergic drug-sensitive motor symptoms, we offer surgery to patients only when medical therapy has failed; (1) severe motor fluctuations, (2) severe dyskinesia, (3) tremor uncontrollable by medications, (4) painful dystonia, (5) side-effect for medication (drug-induced psychosis, nausea, vomitting). Taking account of contraindications is important to get successful outcome of the surgery. Dementia, cognitive deficits and psychosis (not drug-induced) are not improved by DBS. When patients are not able to see experienced doctors who manage in programming and dealing with postoperative problems, they are not appropriate candidates. Though benefit to mobility is evident, a risk-benefit assessment should to be made for each patient.

  9. Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions.

    Directory of Open Access Journals (Sweden)

    Zuchra Zakirova

    2018-01-01

    Full Text Available Dystonia is characterized by involuntary muscle contractions. Its many forms are genetically, phenotypically and etiologically diverse and it is unknown whether their pathogenesis converges on shared pathways. Mutations in THAP1 [THAP (Thanatos-associated protein domain containing, apoptosis associated protein 1], a ubiquitously expressed transcription factor with DNA binding and protein-interaction domains, cause dystonia, DYT6. There is a unique, neuronal 50-kDa Thap1-like immunoreactive species, and Thap1 levels are auto-regulated on the mRNA level. However, THAP1 downstream targets in neurons, and the mechanism via which it causes dystonia are largely unknown. We used RNA-Seq to assay the in vivo effect of a heterozygote Thap1 C54Y or ΔExon2 allele on the gene transcription signatures in neonatal mouse striatum and cerebellum. Enriched pathways and gene ontology terms include eIF2α Signaling, Mitochondrial Dysfunction, Neuron Projection Development, Axonal Guidance Signaling, and Synaptic LongTerm Depression, which are dysregulated in a genotype and tissue-dependent manner. Electrophysiological and neurite outgrowth assays were consistent with those enrichments, and the plasticity defects were partially corrected by salubrinal. Notably, several of these pathways were recently implicated in other forms of inherited dystonia, including DYT1. We conclude that dysfunction of these pathways may represent a point of convergence in the pathophysiology of several forms of inherited dystonia.

  10. The effects of electroconvulsive therapy on tardive dystonia or dyskinesia induced by psychotropic medication: a retrospective study

    Directory of Open Access Journals (Sweden)

    Yasui-Furukori N

    2014-07-01

    Full Text Available Norio Yasui-Furukori,1 Atsuhiro Kikuchi,1 Hiroshi Katagai,1,2 Sunao Kaneko11Department of Neuropsychiatry, Hirosaki University School of Medicine, 2Department of Neuropsychiatry, Hirosaki-Aiseikai Hospital, Hirosaki, JapanBackground: Tardive dystonia and dyskinesia are potentially irreversible neurological syndromes. Successful electroconvulsive treatment (ECT has been reported by multiple sources; however, the existing retrospective reviews and open prospective trials provide little information on the response rate.Methods: Eighteen consecutive patients with tardive dystonia or dyskinesia received a standard course of ECT to treat abnormal movement. The severity of the tardive dystonia and dyskinesia was evaluated using the Abnormal Involuntary Movement Scale (AIMS before and after the course of ECT. The patients who displayed a greater than 50% improvement in the AIMS score were classified as the responders.Results: The mean AIMS score decreased from 19.1±4.7 to 9.6±4.2. There were seven responders among the 18 patients, which yielded a 39% response rate. Conclusion: ECT has a moderate but significant effect on tardive dystonia and dyskinesia. Keywords: tardive dystonia, tardive diskinesia, ECT, medication

  11. Dystonia-4 (DYT4)-associated TUBB4A mutants exhibit disorganized microtubule networks and inhibit neuronal process growth.

    Science.gov (United States)

    Watanabe, Natsumi; Itakaoka, Misa; Seki, Yoich; Morimoto, Takako; Homma, Keiichi; Miyamoto, Yuki; Yamauchi, Junji

    2018-01-01

    Dystonia-1 (DYT1) is an autosomal dominant early-onset torsion form of dystonia, a neurological disease affecting movement. DYT1 is the prototypic hereditary dystonia and is caused by the mutation of the tor1a gene. The gene product has chaperone functions important for the control of protein folding and stability. Dystonia-4 (DYT4) is another autosomal dominant dystonia that is characterized by onset in the second to third decade of progressive laryngeal dysphonia. DYT4 is associated with the mutation of the tubb4a gene, although it remains to be understood how disease-associated mutation affects biochemical as well as cell biological properties of the gene product as the microtubule component (a tubulin beta subunit). Herein we demonstrate that DYT4-associated TUBB4A missense mutants (Arg2-to-Gly or Ala271-to-Thr) form disorganized tubulin networks in cells. Transfected mutants are indeed expressed in cytoplasmic regions, as observed in wild-type transfectants. However, mutant proteins do not exhibit typical radial tubulin networks. Rather, they have diminished ability to interact with tubulin alpha subunits. Processes do not form in sufficient amounts in cells of the N1E-115 neuronal cell line expressing each of these mutants as compared to parental cells. Together, DYT4-associated TUBB4A mutants themselves form aberrant tubulin networks and inhibit neuronal process growth, possibly explaining progress through the pathological states at cellular levels. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Sleep disorders in Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Marina Romanovna Nodel'

    2011-01-01

    PD-cognition (SCOPA-Cog, and the PD quality of life scale (PDQ-39 were used. Results. Sleep fragmentation and early morning awakenings are the most common sleep disorders in PD. Pramipexole therapy resulted in a significant improvement in sleep quality, a reduction in the frequency of falling asleep and nocturnal awakenings. The improved characteristics of sleep were favored by a therapy-induced decrease in the severity of motor (hypokinesis, rigidity, tremor, nocturnal and morning dystonia and nonmotor (restless legs syndrome/acathisia, sensory disorders, nocturia PD manifestations.

  13. Cell based therapy in Parkinsonism

    NARCIS (Netherlands)

    de Munter, J.P.J.M.; Lee, C.; Wolters, E.C.

    2013-01-01

    Parkinson's disease (PD) is a synucleinopathy-induced chronic progressive neurodegenerative disorder, worldwide affecting about 5 million humans. As of yet, actual therapies are symptomatic, and neuroprotective strategies are an unmet need. Due to their capability to transdifferentiate, to immune

  14. Therapeutic Dancing for Parkinson's Disease

    Directory of Open Access Journals (Sweden)

    Lorenna Pryscia Carvalho Aguiar

    2016-06-01

    Full Text Available Therapeutic dancing has been advocated as an effective adjunct to conventional physical therapies for people living with Parkinson's disease (PD. This systematic review evaluates studies on the outcomes of different dance genres on mobility and quality of life in PD. We searched databases including CINHAL (1982–2015, Medline (1922–2015, Scopus (1996–2015, Web of Science (2002–2015, Embase (2007–2015, PEDro (1999–2015 and the Cochrane Library (1996–2015. The key words were: Parkinson's disease, Parkinson*, Parkinsonism, dance, dance therapy, dance genres, safety, feasibility, and quality of life. Two independent investigators reviewed the texts. Only randomized controlled trials, quasirandomized controlled trials, and case series studies were included. There was emerging evidence that therapeutic dance can be safe and feasible for people with mild to moderately severe PD, with beneficial effects on walking, freezing of gait, and health related quality of life.

  15. Argentine tango in Parkinson disease.

    Science.gov (United States)

    2016-10-28

    This article reports on a meta-analysis of 13 studies of the effects of Argentine tango (AT) as a music-based movement therapy for people with Parkinson's disease (PD). Nine studies involved randomised controlled trials.

  16. Musical hallucinations and Parkinson disease.

    Science.gov (United States)

    Ergün, Ufuk; Bozbaş, Ayla; Akin, Umit; Inan, Levent

    2009-05-01

    Musical hallucinations are complex auditory hallucinations. The term covers the clinical phenomenon of hearing tunes and melodies that are uncontrollable and not related to external stimuli. Musical hallucinations may be experienced in a variety of conditions including diseases of the ear and neurologic, psychiatric, infectious, and toxic states. When the underlying pathology resolves, musical hallucinations tend to disappear. We present an elderly man with musical hallucinations and without any conditions known to be related with its occurrence, except for Parkinson disease. Musical hallucinations in the elderly occur predominantly in women with a hearing impairment. Parkinson disease is usually accompanied by visual hallucinations. Auditory hallucinations are rare in Parkinson disease and most of them are accompanied by visual hallucinations. Isolated auditory hallucinations are rarer in Parkinson disease and mostly consist of human voices.

  17. Music Therapy in Parkinson's Disease

    National Research Council Canada - National Science Library

    Hazard, Sergio

    2008-01-01

    This paper presents the results of music therapy interventions with Parkinson's patients at the Physical Medicine and Rehabilitation Service of the National Institute of Geriatrics in Santiago of Chile...

  18. Assessment of Parkinson Disease Manifestations

    OpenAIRE

    Perlmutter, Joel S.

    2009-01-01

    Parkinson disease (PD) is a progressive neurologic condition that causes motor and non-motor manifestations. Treatment provides symptomatic benefit but no current treatment has been proven to slow disease progression. Research studies of PD require a means of rating the severity of disease by measurement of motor manifestations, assessment of ability to perform daily functional activities, and symptomatic response to medication. The most common rating scales are the Unified Parkinson Disease ...

  19. Epidemiology of Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Shu-ying LIU

    2016-02-01

    Full Text Available Parkinson's disease (PD is a common neurodegenerative disease in the aged populations, which is characterized by resting tremor, rigidity, bradykinesia and abnormal gait, accompanied by a variety of non-motor symptoms (NMS. The prevalence and incidence of PD rise sharply with the increase of age. In the advent of global aging, the rapid growing of elderly populations results in a rising number of PD patients, especially in China. A correct understanding of the epidemiology of PD helps to respond to this challenge actively. This article aims to provide an overview of the prevalence, incidence and mortality of PD and their differences among regions. Special efforts are made to illustrate the current status and future trends of the epidemiology and economic burden of PD in China. DOI: 10.3969/j.issn.1672-6731.2016.02.007

  20. Dopamine transporter SPECT in patients with Parkinson's disease

    Energy Technology Data Exchange (ETDEWEB)

    Hamano, Tadanori; Tsuchida, Tatsuro; Hirayama, Mikio; Fujiyama, Jiro; Mutoh, Tatsuro; Yonekura, Yoshiharu; Kuriyama, Masaru [Fukui Medical Univ., Matsuoka (Japan)

    2000-03-01

    The major neuropathological feature in Parkinson's disease (PD) is severe degeneration of the dopamine (DA) neurons in the substantia nigra. Dopamine transporter (DAT) is an important protein in the regulation of DA neurotransmission. It has been reported that PD patients show a loss of DAT in striatum. We report here the findings of single photon emission computed tomography (SPECT) of the DAT with 2{beta}-carboxymethoxy-3{beta}-(4[{sup 123}I]iodophenyl)tropane ([{sup 123}I]{beta}-CIT) to investigate striatal DAT in 10 patients with PD, one patient with vascular parkinsonism (VP), and one patient with dystonia syndrome. Patients were evaluated using the Webster rating scale. Specific/nondisplaceable striatal binding ratio (V3'') was obtained in each case. In PD patients, the uptake of [{sup 123}I]{beta}-CIT was reduced, especially in the tail of putamen compared with caudate nucleus. Even in the early stage of PD, the uptake of {beta}-CIT was reduced not only in the severely affected side, but also in the mildly disturbed side of the brain. Putamen caudate ratio was generally low in PD patients. In VP patient, the uptake was reduced, but putamen caudate ratio was not decreased. V3'' values showed significant correlation with the severity of clinical symptoms such as self-care, facies, posture, gait, speech, and Hoehn-Yahr's stage. On the other hand, V3'' values were not significantly correlated with the degree of tremor, seborrhea, and duration of the illness. In conclusion, we found that SPECT of the [{sup 123}I]{beta}-CIT is a useful method for the diagnosis in the patients presenting parkinsonism, and for the clinico-physiological estimation of parkinsonian symptoms such as self-care, facies, posture, gait, and speech. (author)

  1. Ultrasound and Electromyography Guidance for Injection of the Longus Colli With Botulinum Toxin for the Treatment of Cervical Dystonia.

    Science.gov (United States)

    Allison, Stephen K; Odderson, Ib R

    2016-09-01

    Cervical dystonia, also called spasmodic torticollis, is a painful condition in which neck muscles contract involuntarily, and may cause abnormal head position or movements. The primary (or first line of) treatment of cervical dystonia is chemodenervation with injection of botulinum toxin into the affected muscles. We report a case of a young man with idiopathic cervical dystonia who developed anterocollis (forward flexion of the neck) not responsive to prior scalene and sternocleidomastoid muscle injections. To safely access the deeper cervical musculature, ultrasound (US) was used in conjunction with electromyography, to inject the longus colli muscles bilaterally. The patient responded well and had no complications. The longus colli has been reported to be injected using electromyography, fluoroscopy, computed tomography, and, less frequently, US. We propose that US guidance is an excellent technique for botulinum toxin injection, especially for deep cervical muscles such as the longus colli.

  2. Early Parkinson's May Prompt Vision Problems

    Science.gov (United States)

    ... https://medlineplus.gov/news/fullstory_167131.html Early Parkinson's May Prompt Vision Problems Changes in sight could ... in vision may be an early sign of Parkinson's disease, researchers report. The neurodegenerative condition is caused ...

  3. Diabetes Drug Shows Promise Against Parkinson's

    Science.gov (United States)

    ... fullstory_167612.html Diabetes Drug Shows Promise Against Parkinson's Byetta improved symptoms of motor disease in small, ... may do double duty as a treatment for Parkinson's disease, a new study suggests. "This is a ...

  4. Michael J. Fox Foundation for Parkinson's Research

    Science.gov (United States)

    ... 2014 2015 2016 Our single, urgent goal: Eliminate Parkinson's disease in our lifetime. Today we are the ... 20 years since he publicly disclosed he has Parkinson's, Michael J. Fox sits down with Jane Pauley ...

  5. Dream Robber: Living with Parkinson's disease

    Science.gov (United States)

    ... Current Issue Past Issues Dream Robber: Living with Parkinson's disease Past Issues / Summer 2006 Table of Contents ... effects of levodopa called dyskinesias. Additional Information on Parkinson's Web Links MedlinePlus: http://www.nlm.nih.gov/ ...

  6. Non-motor symptoms of Parkinson's disease

    National Research Council Canada - National Science Library

    Chaudhuri, K. Ray

    2009-01-01

    ... dysfunction of Parkinson's disease 95 Daisy L. Whitehead and Richard. G. Brown 9 Depression, anxiety and apathy in Parkinson's disease 107 David A. Gallagher and Anette Schrag 10 Dementia in Pa...

  7. Michael J. Fox: Spurring Research on Parkinson's

    Science.gov (United States)

    ... please turn JavaScript on. Feature: Parkinson's Disease Michael J. Fox: Spurring Research on Parkinson's Past Issues / Winter 2014 Table of Contents Michael J. Fox and his wife, actress Tracy Pollan, founded ...

  8. Management of Parkinson's disease in Ayurveda: Medicinal plants and adjuvant measures.

    Science.gov (United States)

    Pathak-Gandhi, Namyata; Vaidya, Ashok D B

    2017-02-02

    Medicinal plants like Mucuna pruriens L.(DC) and Withania somnifera L.(Dunal) have been used in traditional Ayurvedic medicine to manage neurodegenerative diseases like Parkinson's disease. The aim of this review is to share the role of Ayurveda's insights, traditional usage and contemporary investigations for translational, integrative applications to manage Idiopathic Parkinson's Disease. High impact journals for Parkinson's diseases, traditional textbooks from Ayurveda as well as relevant clinical and para clinical studies with botanicals are selectively incorporated to evolve the aforesaid translational application. . A. Parkinson's disease (PD) is a complex multi-system, neurodegenerative disease. Though predominantly perceived as a motor disease, it also has debilitating non- motor features, which are frequently missed and not treated. Major treatment goals are to increase striatal dopamine levels with precursor-substitution and/or reduce its breakdown. As the disease progresses, a steady increase in the dose of levodopa is inevitable. However, higher doses cause motor complications of dyskinesia and dystonia and compromise medical treatment. B. ROLE OF MUCUNA PRURIENS L.DC), THE MOST PROMISING BOTANICAL FROM AYURVEDA: Ayurveda offers a natural source of levodopa - the seeds of Mucuna pruriens L.(DC)- which have a long standing safe use in the condition. Its clinical studies have shown pharmacokinetic profile distinct from synthetic levodopa, which is likely to reduce the untoward motor complications. Additionally, its seed extracts have shown neuroprotective benefits which are unrelated to levodopa. C. AYURVEDIC REGIMENS AND MEDICINAL PLANTS FOR NEUROPROTECTIVE AND SYMPTOMATIC BENEFITS: Other regimens (Panchakarma) and medicinal plants used in Ayurveda have been subjected to exploratory studies with promising early results in the condition. The debilitating non motor symptoms in patients have shown response with one of the regimens - medicated oil enema

  9. Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy.

    Directory of Open Access Journals (Sweden)

    Renzo Guerrini

    Full Text Available Absence epilepsy (AE is etiologically heterogeneous and has at times been associated with idiopathic dystonia.Based on the clinical observation that children with AE often exhibit, interictally, a disorder resembling writer's cramp but fully definable as dysgraphia, we tested the hypothesis that in this particular population dysgraphia would represent a subtle expression of dystonia.We ascertained the prevalence of dysgraphia in 82 children with AE (mean age 9.7 and average intelligence and compared them with 89 age-, gender- and class-matched healthy children (mean age 10.57 using tests for handwriting fluency and quality, based on which we divided patients and controls into four subgroups: AE/dysgraphia, AE without dysgraphia, controls with dysgraphia and healthy controls. We compared the blink reflex recovery cycle in children belonging to all four subgroups.We identified dysgraphia in 17/82 children with AE and in 7/89 controls (20.7 vs 7.8%; P = 0.016 with the former having a 3.4-times higher risk of dysgraphia regardless of age and gender (odd ratio: 3.49; 95% CI 1.2, 8.8%. The AE/dysgraphia subgroup performed worse than controls with dysgraphia in one test of handwriting fluency (P = 0.037 and in most trials testing handwriting quality (P< 0.02. In children with AE/dysgraphia the blink reflex showed no suppression at short interstimulus intervals, with a difference for each value emerging when comparing the study group with the three remaining subgroups (P<0.001.In children with AE, dysgraphia is highly prevalent and has a homogeneous, distinctive pathophysiological substrate consistent with idiopathic dystonia.

  10. Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy.

    Science.gov (United States)

    Guerrini, Renzo; Melani, Federico; Brancati, Claudia; Ferrari, Anna Rita; Brovedani, Paola; Biggeri, Annibale; Grisotto, Laura; Pellacani, Simona

    2015-01-01

    Absence epilepsy (AE) is etiologically heterogeneous and has at times been associated with idiopathic dystonia. Based on the clinical observation that children with AE often exhibit, interictally, a disorder resembling writer's cramp but fully definable as dysgraphia, we tested the hypothesis that in this particular population dysgraphia would represent a subtle expression of dystonia. We ascertained the prevalence of dysgraphia in 82 children with AE (mean age 9.7) and average intelligence and compared them with 89 age-, gender- and class-matched healthy children (mean age 10.57) using tests for handwriting fluency and quality, based on which we divided patients and controls into four subgroups: AE/dysgraphia, AE without dysgraphia, controls with dysgraphia and healthy controls. We compared the blink reflex recovery cycle in children belonging to all four subgroups. We identified dysgraphia in 17/82 children with AE and in 7/89 controls (20.7 vs 7.8%; P = 0.016) with the former having a 3.4-times higher risk of dysgraphia regardless of age and gender (odd ratio: 3.49; 95% CI 1.2, 8.8%). The AE/dysgraphia subgroup performed worse than controls with dysgraphia in one test of handwriting fluency (P = 0.037) and in most trials testing handwriting quality (Pdysgraphia the blink reflex showed no suppression at short interstimulus intervals, with a difference for each value emerging when comparing the study group with the three remaining subgroups (Pdysgraphia is highly prevalent and has a homogeneous, distinctive pathophysiological substrate consistent with idiopathic dystonia.

  11. Altered Sensory Feedbacks in Pianist's Dystonia: the altered auditory feedback paradigm and the glove effect

    Directory of Open Access Journals (Sweden)

    Felicia Pei-Hsin Cheng

    2013-12-01

    Full Text Available Background: This study investigates the effect of altered auditory feedback (AAF in musician's dystonia (MD and discusses whether altered auditory feedback can be considered as a sensory trick in MD. Furthermore, the effect of AAF is compared with altered tactile feedback, which can serve as a sensory trick in several other forms of focal dystonia. Methods: The method is based on scale analysis (Jabusch et al. 2004. Experiment 1 employs synchronization paradigm: 12 MD patients and 25 healthy pianists had to repeatedly play C-major scales in synchrony with a metronome on a MIDI-piano with 3 auditory feedback conditions: 1. normal feedback; 2. no feedback; 3. constant delayed feedback. Experiment 2 employs synchronization-continuation paradigm: 12 MD patients and 12 healthy pianists had to repeatedly play C-major scales in two phases: first in synchrony with a metronome, secondly continue the established tempo without the metronome. There are 4 experimental conditions, among them 3 are the same altered auditory feedback as in Experiment 1 and 1 is related to altered tactile sensory input. The coefficient of variation of inter-onset intervals of the key depressions was calculated to evaluate fine motor control. Results: In both experiments, the healthy controls and the patients behaved very similarly. There is no difference in the regularity of playing between the two groups under any condition, and neither did AAF nor did altered tactile feedback have a beneficial effect on patients’ fine motor control. Conclusions: The results of the two experiments suggest that in the context of our experimental designs, AAF and altered tactile feedback play a minor role in motor coordination in patients with musicians' dystonia. We propose that altered auditory and tactile feedback do not serve as effective sensory tricks and may not temporarily reduce the symptoms of patients suffering from MD in this experimental context.

  12. A neuromorphic model of motor overflow in focal hand dystonia due to correlated sensory input

    Science.gov (United States)

    Sohn, Won Joon; Niu, Chuanxin M.; Sanger, Terence D.

    2016-10-01

    Objective. Motor overflow is a common and frustrating symptom of dystonia, manifested as unintentional muscle contraction that occurs during an intended voluntary movement. Although it is suspected that motor overflow is due to cortical disorganization in some types of dystonia (e.g. focal hand dystonia), it remains elusive which mechanisms could initiate and, more importantly, perpetuate motor overflow. We hypothesize that distinct motor elements have low risk of motor overflow if their sensory inputs remain statistically independent. But when provided with correlated sensory inputs, pre-existing crosstalk among sensory projections will grow under spike-timing-dependent-plasticity (STDP) and eventually produce irreversible motor overflow. Approach. We emulated a simplified neuromuscular system comprising two anatomically distinct digital muscles innervated by two layers of spiking neurons with STDP. The synaptic connections between layers included crosstalk connections. The input neurons received either independent or correlated sensory drive during 4 days of continuous excitation. The emulation is critically enabled and accelerated by our neuromorphic hardware created in previous work. Main results. When driven by correlated sensory inputs, the crosstalk synapses gained weight and produced prominent motor overflow; the growth of crosstalk synapses resulted in enlarged sensory representation reflecting cortical reorganization. The overflow failed to recede when the inputs resumed their original uncorrelated statistics. In the control group, no motor overflow was observed. Significance. Although our model is a highly simplified and limited representation of the human sensorimotor system, it allows us to explain how correlated sensory input to anatomically distinct muscles is by itself sufficient to cause persistent and irreversible motor overflow. Further studies are needed to locate the source of correlation in sensory input.

  13. Error-enhancing robot therapy to induce motor control improvement in childhood onset primary dystonia

    Directory of Open Access Journals (Sweden)

    Casellato Claudia

    2012-07-01

    Full Text Available Abstract Background Robot-generated deviating forces during multijoint reaching movements have been applied to investigate motor control and to tune neuromotor adaptation. Can the application of force to limbs improve motor learning? In this framework, the response to altered dynamic environments of children affected by primary dystonia has never been studied. Methods As preliminary pilot study, eleven children with primary dystonia and eleven age-matched healthy control subjects were asked to perform upper limb movements, triangle-reaching (three directions and circle-writing, using a haptic robot interacting with ad-hoc developed task-specific visual interfaces. Three dynamic conditions were provided, null additive external force (A, constant disturbing force (B and deactivation of the additive external force again (C. The path length for each trial was computed, from the recorded position data and interaction events. Results The results show that the disturbing force affects significantly the movement outcomes in healthy but not in dystonic subjects, already compromised in the reference condition: the external alteration uncalibrates the healthy sensorimotor system, while the dystonic one is already strongly uncalibrated. The lack of systematic compensation for perturbation effects during B condition is reflected into the absence of after-effects in C condition, which would be the evidence that CNS generates a prediction of the perturbing forces using an internal model of the environment. The most promising finding is that in dystonic population the altered dynamic exposure seems to induce a subsequent improvement, i.e. a beneficial after-effect in terms of optimal path control, compared with the correspondent reference movement outcome. Conclusions The short-time error-enhancing training in dystonia could represent an effective approach for motor performance improvement, since the exposure to controlled dynamic alterations induces a refining

  14. A Tribute to James Parkinson.

    Science.gov (United States)

    Parent, André

    2018-01-01

    Exactly 200 years ago, the London surgeon-apothecary James Parkinson (1755-1824) published a 66-page-long booklet entitled An Essay on the Shaking Palsy, which contains the first clear clinical description of the shaking palsy or paralysis agitans, which we now refer to as Parkinson's disease. However, the value of this essay was not fully recognized during Parkinson's lifetime, which spanned the American Revolution, the French Revolution, and the Napoleonic Wars. James Parkinson was one of the most singular figures of his time and place. He was successively or concomitantly a virulent political activist, a popular medical writer, a scholarly medical contributor, a highly appreciated parish doctor, a prominent amateur chemist, a devoted madhouse doctor, and a renowned paleontologist. It is that branch of geology that brought Parkinson fame during his lifetime. He was an insatiable collector of fossils, minerals, and shells that came to form the core of the museum that he set out at his home in Shoreditch, England. These specimens are beautifully illustrated in his Organic Remains of a Former World (1804-1811), a three-volume treatise that rapidly became a standard paleontology textbook. Parkinson was a founding member of the Geological Society of London, and in recognition of his contribution to the nascent field of paleontology his name was given to many fossils, particularly ammonites (e.g. Nautilus parkinsoni). Hence, we owe much to Mr. Parkinson, the Paleontologist, as he used to be referred to after his death, for such a vast and multifaceted contribution to natural science and medicine.

  15. Adductor laryngeal breathing dystonia in NBIA treated with botulinum toxin-A

    Directory of Open Access Journals (Sweden)

    Vinod Rai

    2013-01-01

    Full Text Available We report a rare case of neurodegeneration with brain iron accumulation (NBIA presented with episodic inspiratory stridor. A 10-year-old boy presented with 3-year history of gradually progressive spastic gait and generalized dystonia (involving all four limbs, neck, jaw, and speech. MRI brain showed "Eye of Tiger" sign. He recently developed severe inspiratory stridor associated with almost gasping respiration. Direct video laryngoscopy showed paradoxical vocal cord closure during inspiration. He was treated with EMG-guided botulinum toxin-A injection given into bilateral thyroarytenoid muscles, resulting in dramatic response with complete disappearance of the stridor within a week. The effect lasted 18 months.

  16. Stimulus Timing by People with Parkinson's Disease

    Science.gov (United States)

    Wearden, J. H.; Smith-Spark, J. H.; Cousins, Rosanna; Edelstyn, N. M. J.; Cody, F. W. J.; O'Boyle, D. J.

    2008-01-01

    Previous literature suggests that Parkinson's disease is marked by deficits in timed behaviour. However, the majority of studies of central timing mechanisms in patients with Parkinson's disease have used timing tasks with a motor component. Since the motor abnormalities are a defining feature of the condition, the status of timing in Parkinson's…

  17. What parents think and feel about deep brain stimulation in paediatric secondary dystonia including cerebral palsy: A qualitative study of parental decision-making.

    Science.gov (United States)

    Austin, Allana; Lin, Jean-Pierre; Selway, Richard; Ashkan, Keyoumars; Owen, Tamsin

    2017-01-01

    Dystonia is characterised by involuntary movements and postures. Deep Brain Stimulation (DBS) is effective in reducing dystonic symptoms in primary dystonia in childhood and to lesser extent in secondary dystonia. How families and children decide to choose DBS surgery has never been explored. To explore parental decision-making for DBS in paediatric secondary dystonia. Data was gathered using semi-structured interviews with eight parents of children with secondary dystonia who had undergone DBS. Interviews were analysed using Interpretative Phenomenological Analysis. For all parents the decision was viewed as significant, with life altering consequences for the child. These results suggested that parents were motivated by a hope for a better life and parental duty. This was weighed against consideration of risks, what the child had to lose, and uncertainty of DBS outcome. Decisions were also influenced by the perspectives of their child and professionals. The decision to undergo DBS was an ongoing process for parents, who ultimately were struggling in the face of uncertainty whilst trying to do their best as parents for their children. These findings have important clinical implications given the growing referrals for consideration of DBS childhood dystonia, and highlights the importance of further quantitative research to fully establish the efficacy of DBS in secondary dystonia to enhance informed decision-making. Copyright © 2016. Published by Elsevier Ltd.

  18. Parkinson disease and exercise.

    Science.gov (United States)

    Earhart, Gammon M; Falvo, Michael J

    2013-04-01

    Parkinson disease (PD) is a progressive, neurodegenerative movement disorder. PD was originally attributed to neuronal loss within the substantia nigra pars compacta, and a concomitant loss of dopamine. PD is now thought to be a multisystem disorder that involves not only the dopaminergic system, but other neurotransmitter systems whose role may become more prominent as the disease progresses (189). PD is characterized by four cardinal symptoms, resting tremor, rigidity, bradykinesia, and postural instability, all of which are motor. However, PD also may include any combination of a myriad of nonmotor symptoms (195). Both motor and nonmotor symptoms may impact the ability of those with PD to participate in exercise and/or impact the effects of that exercise on those with PD. This article provides a comprehensive overview of PD, its symptoms and progression, and current treatments for PD. Among these treatments, exercise is currently at the forefront. People with PD retain the ability to participate in many forms of exercise and generally respond to exercise interventions similarly to age-matched subjects without PD. As such, exercise is currently an area receiving substantial research attention as investigators seek interventions that may modify the progression of the disease, perhaps through neuroprotective mechanisms.

  19. Gene Therapy for Parkinson's Disease

    Directory of Open Access Journals (Sweden)

    Rachel Denyer

    2012-01-01

    Full Text Available Current pharmacological and surgical treatments for Parkinson's disease offer symptomatic improvements to those suffering from this incurable degenerative neurological disorder, but none of these has convincingly shown effects on disease progression. Novel approaches based on gene therapy have several potential advantages over conventional treatment modalities. These could be used to provide more consistent dopamine supplementation, potentially providing superior symptomatic relief with fewer side effects. More radically, gene therapy could be used to correct the imbalances in basal ganglia circuitry associated with the symptoms of Parkinson's disease, or to preserve or restore dopaminergic neurons lost during the disease process itself. The latter neuroprotective approach is the most exciting, as it could theoretically be disease modifying rather than simply symptom alleviating. Gene therapy agents using these approaches are currently making the transition from the laboratory to the bedside. This paper summarises the theoretical approaches to gene therapy for Parkinson's disease and the findings of clinical trials in this rapidly changing field.

  20. Constant-Current Deep Brain Stimulation of the Globus Pallidus Internus in the Treatment of Primary Dystonia by a Novel 8-Contact (Octrode) Lead.

    Science.gov (United States)

    Sakas, Damianos E; Leonardos, Athanassios; Boviatsis, Efstathios; Gatzonis, Stergios; Panourias, Ioannis; Stathis, Pantelis; Stavrinou, Lampis C

    2017-07-01

    To evaluate bilateral constant-current globus pallidus internus (GPi) deep brain stimulation using an 8-contact lead. This prospective, open-label, single-center pilot study of 10 patients assessed the feasibility of delivering bilaterally constant-current GPi deep brain stimulation with a novel 8-channel lead to treat primary dystonia using standard scales as outcome measures. Patients included 4 men and 6 women with a mean age of 35.8 years ± 9.2 (range, 27-49 years). Mean age of onset was 18.5 years ± 9.1 (range, 8-35 years), and mean disease duration was 17.3 years (range, 7-27 years). All had primary dystonia (8 generalized dystonia, 1 segmental dystonia, 1 focal dystonia). The primary variable was determined as 50% reduction in dystonia symptoms from baseline to the 6-month follow-up, as defined by the Burke-Fahn-Marsden Dystonia Rating Scale. Six patients (60.0%) achieved >50% reduction in Burke-Fahn-Marsden Dystonia Rating Scale score and were classified as responders at the 6-month follow-up. Five of these 6 responders (83.3%) sustained that response through the assessment at the end of the first year. Constant-current stimulation was associated with significant improvement in pain and quality of life in all patients. Nearly 84% of the overall improvement occurred by the end of first month after stimulation onset, documenting an early response to treatment. Axial symptoms responded the best. Constant-current GPi deep brain stimulation proved safe and efficacious for treatment of primary dystonia. Motor scores improved by 54%, mostly within the first month. No phenotype-specific stimulation could be achieved, despite the capability of the new lead to stimulate specific loci within the GPi. Copyright © 2017 Elsevier Inc. All rights reserved.