Familial Myoclonus-Dystonia Associated with SGCE Variant in a Chinese Family: Clinical and Genetic Characterization of Two Siblings
Objective: To report a familial case of Myoclonus-Dystonia Syndrome caused by an SGCE splice-site variant, highlighting the classic maternal imprinting mechanism and the clinical diagnostic…A Case of NUS1 Spectrum Disorder with Adult-Onset Psychosis
Objective: To report a novel case of NUS1 spectrum with childhood-onset abnormal movements and adult-onset psychiatric manifestations. Background: The NUS1 gene is associated with developmental…ANK2 Mutations Associated with a Myoclonus-Dystonia Phenotype: Expanding the Neurological Spectrum of Ankyrin-B Dysfunction
Objective: To deeply characterize the clinical and genetic spectrum of ANK2-related hyperkinetic movement disorders and expand their recognized link to myoclonus-dystonia phenotype. Background: The ANK2…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…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…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…
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