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…Clinical and Genetic Spectrum of Early-Onset Cerebellar Ataxia in India: A Tertiary Care Center Experience
Objective: To characterize the genetic landscape of early-onset cerebellar ataxia excluding repeat expansion disorders. Background: Early-onset cerebellar ataxia (EOCA, age at onset ≤ 20 years) encompasses a diverse group of disorders with significant…A case of ataxia and muscle stiffness in EEF2 gene mutation with associated anti-GAD antibodies
Objective: Here we present a case of ataxia and muscle stiffness in a person with variant EEF2 gene mutation with associated anti-GAD antibodies along with…Spinocerebellar Ataxia Recessive Type 7 (SCAR7) in a Consanguineous Family: A Case Report
Objective: Spinocerebellar ataxia autosomal recessive type 7 (SCAR7) is a rare disorder caused by biallelic pathogenic variants in TPP1. It usually manifests in childhood or…Genetic Ataxias in Argentina
Objective: To determine the occurrence and frequency of genetic ataxias in Argentina. Background: Genetic ataxias comprise hundreds of disorders with significant phenotypic, genetic, and epidemiological…The Role of Cognitive Impairment in the Effectiveness of Rehabilitation Training Programs for Parkinson’s Disease: A Review of Current Evidence
Objective: To examine the impact of cognitive impairment (CI) on the effectiveness of rehabilitation training programs in individuals with Parkinson’s disease (PD) and identify strategies…Phenotypic Variability Across Four Generations in a Family with CACNA1A Mutation
Objective: Our objective is to describe phenotypic variability across four generations in a family with a specific CACNA1A mutation. Background: CACNA1A is a gene located…Peripheral neuropathy in Autosomal Recessive Spinocerebellar Ataxia due to ANO10 mutation – Expanding the phenotypic spectrum
Objective: SCAR10/ Adult-onset autosomal recessive cerebellar ataxia is an exceptionally rare form of ataxia, caused by mutations in the ANO10 gene and the specific genotype–phenotypecorrelation…Genotype and age at onset drive vermis atrophy in CACNA1A and GAA-FGF14 related ataxias
Objective: To assess cerebellar volumetry using a deep learning method in patients with non-polyglutamine CACNA1A- or GAA-FGF14-related disease. Background: Ion channel dysfunction is a recurring…A Clinical Overlap Presentation of Episodic Ataxia Type 2 and Periodic Paralysis with a Novel Mutation in CACNA1A
Objective: To describe a case of episodic ataxia type 2 (EA2) with features of periodic paralysis (PP) associated with a novel mutation in CACNA1A. Background:…
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