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…Phenotypical Study of Progressive Myoclonic Epilepsy in Eastern Algeria
Objective: We aim to analyze phenotypical features of individuals from eastern Algeria having a PME phenotype followed in our center (Dr Benbadis University Hospital). Background:…Expanding the Phenotypic Spectrum of CACNA1A Variants: A Single-Center Experience
Objective: This study aims to describe pediatric patients with CACNA1A variants, detailing the clinical phenotype, with emphasis on the movement phenomenologies, genetic variants, electrophysiological and…Spinocerebellar Ataxia Type 17 First Reported Case in Northern Mexico
Objective: To report the first documented case of spinocerebellar ataxia type 17 (SCA17) in northern Mexico. Background: SCA17 is an autosomal dominant neurodegenerative disorder caused…Action-Induced Dystonic Opisthotonus as an Atypical Presentation in Ataxia Telangiectasia
Objective: We present a rare case of Ataxia-telangiectasia (AT) characterized by intermittent action-induced dystonic opisthotonus causing frequent vomiting after meals intake [figure1]. Background: AT is…The Phenotypic Spectrum of ATP1A3-Related Disorders: A Brazilian Cohort
Objective: To describe a case series of patients with ATP1A3 variants, analyzing their phenotypic presentation and genetic characteristics in Brazil. Background: ATP1A3-related disorders exhibit a complex…
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