Coexisting CACNA1A pathogenic variant and MJD expansion in the same family
Objective: Genetic investigation of a family with inherited cerebellar ataxia. Background: Despite the identification of an increasing number of genes causing dominant spinocerebellar ataxias (SCAs),…Rapidly progressive ataxia caused by an undetermined paraneoplastic disorder: A case report
Objective: To report the case of a 69-year-old woman with rapidly progressive ataxia. Background: Various cases exist in the literature of rapidly progressive ataxia secondary…Two cases of hemichorea-hemiballism in nonketotic hyperglycemia
Objective: We describe two cases of Hemichorea-Hemiballism (HCHB) associated with nonketotic hyperglycemia. Background: HCHB is defined as continuous, non-patterned, and involuntary movement involving one side…The clinical value of SPECT in identifying dystonic muscles of patients with cervical dystonia
Objective: The aim of this study is to compare the efficacy of selecting target muscles for botulinum toxin injection by abnormal movement pattern and by…Siblings with a PRKRA (DYT16) Mutation and Startle Myoclonus
Objective: To characterize and expand the phenotype of a family from North-East England with DYT16. Background: DYT16 is an autosomal recessive disease associated with mutations…Paroxysmal multifocal dystonia with hemiplegic migraine possibly related to novel CACNA1A mutation
Objective: To report a case of a unique clinical presentation of hemiplegic migraine associated with paroxysmal multifocal dystonia possibly related to a novel CACNA1A mutation.…Pilot trial of botulinum toxin and occupational therapy for Writer’s Cramp
Objective: We aimed to compare the effects of botulinum toxin (BoNT) therapy alone with a combination of BoNT and occupational therapy on patients with writer’s…Analysis of sensory tricks in 45 patients with pantothenate kinase-associated neurodegeneration
Objective: To analyze and classify sensory tricks developed by patients with dystonia in the setting of pantothenate kinase-associated neurodegeneration (PKAN). Background: PKAN is a progressive…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…Prevelance in the World
Objective: To analyze the static data in the incidence of Parkinson disease in the world. Background: Parkinson’s disease is considered a progressive multisystem disorder involving…
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