Clinical and Molecular Characterization of a Family with Ataxia with Oculomotor Apraxia Type 2
Objective: To describe a consanguineous family with ataxia with oculomotor apraxia, type II (AOA2). Background: AOA2 is an autosomal recessive neurodegenerative syndrome leading to progressive…Clinical characteristics of a family harbouring a novel CCDC88C mutation (SCA40)
Objective: We here report on clinical features and course of disease in a novel CCDC88C mutation causing spinocerebellar ataxia type 40 (SCA40). Background: SCA40 is…Generalized choreoathetoid-like movements in primary Sjögren syndrome
Objective: To report a case of choreoathetoid-like movements associated to primary Sjögren syndrome. Background: Autoimmune diseases are not uncommon causes of movement disorders. Two percent…Genome-wide association study identifies common genetic variants associated with cervical dystonia
Objective: We aim to identify genetic variants of cervical dystonia (CD) in a large cohort of patients using a genome-wide association study (GWAS) approach. Background:…Can cerebellar dysfunction help differentiate idiopathic from functional cervical dystonia?
Objective: This study investigated cerebellar function in patients with primary cervical dystonia (CD) and patients with presumed functional dystonia, with the intention to both clarify…Atypical presentation in 4 patients of Subacute Sclerosing Pan Encephalitis (SSPE), –widening phenotypic horizon
Objective: To highlight atypical presentation of SSPE and to create high index of awareness about phenotypic spectrum of the disease especially in developing countries. Background:…Temporal Discrimination Threshold is Associated with Multiple Regions of Resting-State Brain Activity in Musician’s Dystonia
Objective: To examine temporal discrimination threshold (TDT) score across different but related forms of task-specific focal dystonia and to assess the correlation between TDT alterations…Usefulness of ultrasound-guided botulinum toxin injections in a case of cervical dystonia
Objective: Case report of a patient with a severe form of cervical dystonia (CD) Background: Unsuccessful treatment with botulinum toxin of CD may result from…Effect of multiple sessions of transcranial direct current stimulation in Writer’s cramp: Does it hold promise?
Objective: To assess the effect of 5 days of transcranial direct current stimulation (tDCS) on spiral drawing in Writer’s Cramp patients. Background: Writer’s cramp (WC)…Incidence of Parkinson’s disease: Pooled analysis of six high-quality incidence studies with long-term follow-up
Objective: To describe the incidence of Parkinson’s disease (PD); to investigate whether the male:female ratio of incident PD varies with age; and to set up…
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