Persistent myoclonic dystonia due to SCL2A1 mutation
Objective: We present a young woman with myoclonic dystonia due to a novel mutation in SCL2A1 gene. Background: Mutations in the SCL2A1 gene can cause…Children with idiopathic tics reveal additional features of hyperkinetic movement disorders
Objective: To investigate whether children with tics reveal features of additional hyperkinetic movement disorders. Background: The patho-physiology for idiopathic tic disorders is unknown, although underlying…Cognitive and behavioral problems in children and adolescents with myoclonus dystonia
Objective: To compare the neuropsychological and behavioral profile of A) children and adolescents with myoclonus dystonia (MD) to a healthy control group and B) MD…Alternating hemiplegia of childhood (AHC) as a new presentation of adenylate cyclase 5 (ADCY5)-mutation-associated disease
Objective: To expand and determine the clinical spectrum associated with mutations in the Adenylate Cyclase 5 gene (ADCY5). Background: Recently, mutations in the ADCY5 gene…Overlapping corticobasal syndromes: The many faces of the Armstrong criteria
Objective: To evaluate the prevalence and clinical presentation of corticobasal variants listed in the new Armstrong criteria, exploring their overlap with progressive supranuclear palsy (PSP),…Three distinct cases of methamphetamine induced movement disorders
Objective: To detail three cases of methamphetamine induced movement disorders with unique clinical phenotypes. Background: MA is an addictive psychostimulant that affects both the central…Creutzfeldt-Jakob disease presenting predominantly with movement disorder: A case report
Objective: To highlight that Creutzfeldt-Jakob Disease can present predominantly with movement disorder. Background: Creutzfeldt-jakob Disease (CJD) is a rapidly progressive spongioform degeneration of the brain…Beyond initial clinical phenotype of Madelung disease: Myoclonus, gait disorder and multisystem involvement led to genetic diagnosis
Objective: To report the clinical phenotype of an uncommon hereditary systemic disease with slowly progressive gait and movement disorder with genetic identification of two concurrent…Familial cortical myoclonic tremor with epilepsy in Chinese population: Clinical and neurophysiologic features in nine pedigrees from People’s Republic of China
Objective: To delineate and analyze the clinical and neurophysiologic features of 55 patients from nine Chinese familial cortical myoclonic tremor with epilepsy (FCMTE) pedigrees. Background:…Post-anoxic myoclonus: Timing matters
Objective: To highlight that timing of post-anoxic myoclonus following initial anoxic injury can result in markedly different outcomes. Background: Post-anoxic myoclonus is typically considered a…
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