Does ‘DYT23’ exist? Report of a second family with adult- onset focal dystonia and a CACNA1AB mutation – causative or coincidental?
Objective: To describe clinical and genetic findings in a patient with focal adult-onset primary cranial dystonia and chorea, and a mutation in CACNA1B (also referred…Decreased blood beta-Glucosidase activity and GBA mutations in Dystonia
Objective: To report on the observation of decreased levels of GCase in peripheral blood in patients presenting with dystonia without signs of parkinsonism. Background: Glucocerebrosidase…Temporal discrimination threshold in musician’s dystonia – an endophenotype?
Objective: To compare the temporal discrimination threshold (TDT) between musician's dystonia (MD) patients and healthy controls, and between dystonic and non-dystonic fingers of musicians with…Frequency and Phenoptypic Spectrum of KMT2B Mutations in Childhood-Onset Dystonia: Results from a Single-Centre Cohort Study
Objective: To assess the frequency of KMT2B mutations in a cohort of patients with childhood-onset dystonia and characterize the related molecular and phenotypic spectrum. Background:…Impaired reaching movements in idiopathic cervical dystonia patients
Objective: Aim of the current study is to describe how patients with idiopathic cervical dystonia (CD) perform reaching movements with their upper limb (i.e. a…Cohort profile of the Japan Dystonia Consortium: Genetic diagnosis and characteristics of movement disorders in Japan
Objective: To reveal molecular epidemiology of hereditary dystonia through resequencing of the currently-known dystonia genes and identification of novel genetic defects. Background: The Japan Dystonia…Spectrum of movement disorders with anti-neuronal antibodies: Case series
Objective: To study the spectrum of clinical features of antineuronal antibody associated neurological syndromes presenting at a tertiary care centre in North India. Background: Movement…Reversible Extrapyramidal features as unusual presentation of central pontine myelinolysis: A case report
Objective: To be acquainted with the extrapyramidal symptoms developed during the course of central pontine myelinolysis. To emphasize the importance of neuroimaging in the diagnosis…Disrupted superior collicular activity may reveal cervical dystonia disease pathomechanisms
Objective: To assess by functional magnetic resonance imaging, the response of the superior colliculi to a looming stimulus in cervical dystonia patients and their unaffected…Trisomy 8 Mosaicism and dystonia: a THAP1 overdose?
Objective: We report a case of Trisomy 8 Mosaicism (T8M, Warkany Syndrome) with craniocervical and hand dystonia, an hitherto unreported disease association. Background: T8M is…
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