Deep Brain Stimulation in Generalized Dystonia Caused by PRKRA Mutation
Objective: Dystonia is a hyperkinetic movement disorder with a complex pathophysiology. The medical treatment includes pharmacological treatment, including botulinum toxin (BoNT), which is considered the…Internal globus pallidus deep brain stimulation in ACTB-related deafness-dystonia
Objective: To describe the response to deep brain stimulation (DBS) in a patient with ACTB-related deafness-dystonia syndrome with three years of follow-up and to review…Two cases of severe generalized dystonia in IRF2BPL and response to treatment
Objective: We describe two patients who presented with progressive, generalized dystonia and associated neurodevelopmental regression in early childhood found to have pathogenic variants in IRF2BPL.…Genetic landscape of dystonia in Asian Indian patients
Objective: To identify potentially pathogenic genomic variations associated with dystonia phenotypes in Asian Indian patients with dystonia. Background: The Asian Indian population is underrepresented in…Mutation screening and burden analysis of AOPEP in dystonia in a Chinese population
Objective: To explore the genetic involvement of AOPEPin dystonia in East Asian population. Background: Recently, AOPEPwas identified to be a novel likely causative gene of autosomal recessive dystonia.…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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