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…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…A Case of Progressive Cerebellar Syndrome with Ataxia as a First Sign
Objective: To present a case of paraneoplastic cerebellar degeneration whose first sign was ataxia. Background: Paraneoplastic cerebellar degeneration (PCD) is a rare autoimmune syndrome that presents…Oculomotor Abnormalities in the Spinocerebellar Ataxias: A Large Cohort Analysis
Objective: To characterize genotype-specific ocular motor features in spinocerebellar ataxia (SCA) as a function of SCA genotype. Background: The spinocerebellar ataxias are a genetically diverse…A Case of Rapidly Evolving Ataxic Syndrom in a Young Adult
Objective: To describe a case of rapidly progressive ataxia in a young adult. Background: Multiple system atrophy is a rare and progressive synucleinopathy that can…Modeling disease progression in spinocerebellar ataxias
Objective: In the context of emerging gene-targeted therapies for polyglutamine spinocerebellar ataxias (SCAs), identifying predictive clinical markers of disease progression is becoming increasingly relevant. We…Late-Onset Bulbar-Predominant Neurodegeneration Associated With a Truncating AFG3L2 Variant: Expanding the Clinical Spectrum of AFG3L2-Related Disease
Objective: To describe an atypical late-onset, bulbar-predominant neurodegenerative presentation associated with a heterozygous truncating AFG3L2 variant and contextualize this phenotype within the expanding spectrum of…Cerebellar Variant of Progressive Supranuclear Palsy: First Case Report from Peru
Objective: To describethe clinical and neuroimaging features of a patient with the cerebellar variant of Progressive Supranuclear Palsy (PSP-C) Background: Progressive supranuclear palsy (PSP)is a…Genotype-Specific Risk Factors for Falls in Spinocerebellar Ataxia: A Cross-Sectional Analysis of SCA1, SCA2, SCA3, and SCA6
Objective: To determine fall prevalence and identify predictors of fall risk across SCA1, SCA2, SCA3, and SCA6. Background: Falls represent a major source of morbidity in spinocerebellar…Archimedes Spiral and Straight-Line Drawings as Digital Biomarkers in Cerebellar Ataxia: A Preliminary Study
Objective: To develop a computer vision-based pipeline for extraction of digital biomarkers from hand drawing tasks and to evaluate their correlation with clinical ataxia severity.…
- 1
- 2
- 3
- …
- 34
- Next Page »