The FGF14-SCA27B GAA•TTC Repeat Shows Marked Somatic Expansion in the Cerebellum
Objective: To characterize somatic instability and molecular mechanisms of the FGF14 GAA•TTC repeat across serial blood samples, fibroblasts, induced pluripotent stem cells (iPSCs), and post-mortem brains. Background: Spinocerebellar…A Case Report of Two Affected Siblings with Spinocerebellar Ataxia Type 1
Objective: To present a case of two affected siblings with Spinocerebellar ataxia type 1 Background: Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative…Global Genetic Ataxia Resource: An MDSGene Online Platform
Objective: To create a comprehensive global resource integrating epidemiological, phenotypic, and diagnostic data on genetic ataxias through an online platform. Background: Genetic ataxias exhibit variable…Novel SPTAN1 Variant in Adult-Onset Cerebellar Ataxia in Active Duty Military Member
Objective: The objective is to investigate the genetic basis of cerebellar ataxia and identify a novel variant associated with this condition in an active-duty military…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…Diagnostic yield of Whole-genome sequencing in Genetic Movement disorders
Objective: To assess the breadth of presentations to a tertiary neurogenetics clinic and evaluate the diagnostic yield of whole-genome sequencing (WGS) in genetic movement disorders.…AOA1 Versus AOA2 : A Comparative Study Of A Tunisian Cohort
Objective: The aim of our study is to compare the epidemiological, clinical, paraclinical and follow-up features of AOA1 and AOA2 in order to identify distinctive…Spastic Paraplegia as a Novel Phenotype in Late Adulthood Onset POLG Disease: A Pathophysiological Continuum?
Objective: We report a case of late adult onset gradually progressive spastic paraplegia secondary to pathogenic variants in the POLG gene. Background: Many pathogenic mutations…Stroke, Chronic Ataxia and Tremor in a Pediatric Patient with c.2137C>A Genetic Variant in CACNA1A
Objective: To describe a pediatric case of chronic non-progressive ataxia, nystagmus, kinetic tremor, refractory epilepsy, and arterial ischemic stroke (AIS) associated with a CACNA1A c.2137C>A…Spinocerebellar Ataxia Type 40 (SCA-40) with a Novel Mutation in an Indian Female: A Case Report
Objective: To report the first Indian patient with SCA 40 who presented in the fifth decade with a novel missense mutation (c.1291C>T, p.His431Tyr), expanding the…
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