Dentatorubral–Pallidoluysian Atrophy (DRPLA) : A case series of nine patients from western India
Objective: To study the clinicoradiological and genetic profile of confirmed Dentatorubral–Pallidoluysian Atrophy (DRPLA) cases in Western India Background: DRPLA is a hereditary disease caused due to trinucleotide repeat…Autosomal Dominant DHDDS-Related Movement Disorder Treated with Primidone
Objective: To describe novel clinical features and treatment response in a patient with neurodevelopmental disorder due to variants in dehydrodolichol diphosphate synthetase (DHDDS). Background: DHDDS…The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights
Objective: Mutations in the GOSR2 gene are associated with North Sea-Progressive Myoclonus Epilepsy (NS-PME). Because more recently additional phenotypes have been described we systematically reviewed…A Case of SGCE Myoclonus-Dystonia diagnosed in a 70-Year-Old Male
Objective: N/A Background: SGCE myoclonus-dystonia (SGCE-M-D) is a movement disorder characterized by myoclonus and dystonia, primarily affecting the neck, trunk, and upper limbs. Patients may…GNAI1-Associated Childhood-Onset Hyperkinetic Movement Disorder: A Case Report
Objective: To describe the clinical presentation, diagnostic evaluation, and genetic findings in a 7-year-old male with a hyperkinetic movement disorder associated with a novel GNAI1…Neurological manifestations and genotypes of Gaucher disease type 3: MDSGene systematic review
Objective: To characterize the spectrum of neurological manifestations of Gaucher disease type 3 (GD3) and identify the most common GBA1 variants. Background: Gaucher disease is…Mechanism Study of Familial Cortical Myoclonic Tremor with Epilepsy Type 1 Caused by Pentanucleotide Repeat Expansion in the SAMD12 Gene
Objective: This study aims to explore the pathogenic mechanisms of familial cortical myoclonic tremor with epilepsy (FCMTE) using various cellular models, from the perspectives of…Childhood onset progressive myoclonus and ataxia in a patient with novel TBC1D2B gene mutation
Objective: Myoclonus, ataxia, tremor and dystonia have been described in some patients with TBC1D2B gene mutation. In this paper we present a patient with progressive…Expanding the phenotypic spectrum of movement disorders in 22q11.2 deletion syndrome
Objective: To formally characterize the evolving spectrum of movement disorders associated with chromosome 22q11.2 deletion syndrome Background: Emerging evidence suggests that a wide range of…Intermediate Expansion of MARCHF6 causes FAME3 without Epilepsy
Objective: To describe the first case of Familial adult myoclonic epilepsy 3 (FAME3) due to intermediate intronic expansion of MARCHF6. Background: FAME is an autosomal…
- 1
- 2
- 3
- 4
- Next Page »