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…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:…Prevalence of REM Sleep Behavior Disorder in Sun City, Arizona
Objective: Determine prevalence of REM Sleep Behavior Disorder (RBD) in Sun City, Arizona Background: RBD is the strongest known clinical risk factor for neurodegenerative disorders…Prevalence and characteristics of patients with progressive supranuclear palsy (PSP) in US health insurance claims data
Objective: To estimate the prevalence of PSP in the United States (US) and present a profile of PSP patients. Background: Progressive supranuclear palsy (PSP) is…Decision making in Huntington’s disease
Objective: To investigate perceptual decision making and reflexion impulsivity in preclinical and manifest patients with Huntington’s disease (HD). Background: Huntington’s disease (HD) is an autosomal…Driving performance of Huntington’s disease gene carriers
Objective: To investigate if differences in driving performance between Huntington's disease (HD) gene carriers and healthy individuals can be detected with a driving simulator. Furthermore,…Botulinum toxin A (BoNT A) treatment of postsurgical/posttraumatic focal movements not responding to oral therapy
Objective: We report three cases of focal movement disorder following trauma or surgery. Oral therapies were ineffective in both patients and symptoms dramatically improved after…Progressive encephalomyelitis with rigidity and myoclonus (PERM): Phenomenology, investigations and management of two recent cases
Objective: To describe the diagnosis and treatment of two cases of anti-glycine receptor antibody positive PERM Background: PERM is a life-threatening autoimmune condition, which presents…Diagnostic value and capability of DaT (dopamine-transporter) SEPCT scan to assess clinically uncertain Parkinsonism Diseases as a single institutional experience in Kuwait Population
Objective: To evaluate the diagnostic value and capability of DaT scan to increase clinical confidence in order to confirm/rule out the diagnosis, change management and…Eye movement disorders after cerebellar infaction
Objective: This study aims to demostrate that the posterior cerebellar vermis controls both saccade precision and smooth pursuit velocity in humans. Background: The posterior vermis…
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