Whole-Exome Sequencing in a Movement Disorders Clinic
Objective: To evaluate the diagnostic utility of whole-exome sequencing (WES) in select patients with a movement disorder. Background: Many patients with suspected genetic movement disorders…A case of dystonia-parkinsonism associated with a heterozygous PRKRA (DYT16) gene mutation
Objective: We describe the clinical presentation, diagnosis, and treatment of a case of dystonia-parkinsonism associated with a heterozygous mutation in the initiator methionine of the…A case of Bainbridge-Ropers syndrome in a child.
Objective: This study describe the clinical case of Bainbridge-Ropers syndrome caused by the ASXL3 gene mutation. Background: Bainbridge-Ropers syndrome is an autosomal dominant disorder typically…Late-onset Familial Segmental Dystonia with Novel GNAL Mutation
Objective: Report a unique onset of dystonia in family affected by tremor and segmental dystonia Background: Background: A 66-year-old woman of Norweigan descent presented with…MOVEMENT DISORDERS IN CHILDREN WITH ATP1A3 GENE MUTATIONS. A SERIES OF CHILEAN PATIENTS
Objective: Describe the most frequent abnormal movements, their association with other symptoms, and the response to treatment in 4 children with ATP1A3 gene mutations. Background:…A novel variant [c.2974G>A; (p.Asp992Asp)] of DYT/PARK-ATP1A3
Objective: To describe the clinical presentation of a novel likely pathogenic variant in ATP1A3. Background: Rapid onset dystonia-parkinsonism is related to mutations in ATP1A3 gene.…Childhood-Onset Hemidystonia: A Transportophaty related to SLC6A3 missense mutation
Objective: To present the case of a childhood-onset hemidystonia carrying a homozygous SLC6A3 missense mutation. Background: Dystonia is a movement disorder characterized by sustained or…A novel ANO3 variant associated with generalized dystonia in an elderly woman
Objective: To report a case of dystonia that adds to the growing body of literature regarding the genotypic variants associated with the ANO3 gene implicated…Dystonia due to GM3 synthase deficiency
Objective: GM3 synthase deficiency has been rarely reported to cause dystonia. We report three cases of affected siblings involving a prominent dystonic phenotype. Background: Gangliosides…Analysis of dystonia and rating scales in children and young adults with SGCE myoclonus dystonia
Objective: The aim of this study was to analyze the clinical characteristics of dystonia (Axis I) and to explore rating tools for writing, walking and running…
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