Frequency and Phenotypic Characterization of Genetic Causes of Sporadic Late-Onset Cerebellar Ataxia: insights from a Cohort of 315 patients
Objective: To estimate the prevalence, characterize the phenotypic spectrum, identify discriminative features of genetically determined SLOCA and implement a machine learning model for rationalizing SLOCA…Targeted Repeat-Expansion Screening Highlights Unmet Genomic Needs in Genetically Naive Ataxia: A Ukrainian Single-Centre Pilot Study
Objective: To assess the diagnostic yield of targeted repeat-expansion testing in patients with genetically naïve ataxia after exclusion of secondary causes. Background: Progressive ataxia is…Ataxia as the Primary Symptom of Leber Hereditary Optic Neuropathy: A Case Report of a Patient and Family Observation
Objective: To highlight the possibility of ataxia developing as the primary symptom of Leber hereditary optic neuropathy (LHON). Background: LHON is a mitochondrial disorder characterized…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…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…
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