Apolipoprotein E epsilon4 allele is associated with better performance language and visual memory in spinocerebellar ataxia type 3.

ABSTRACT:

Background

The regulatory role of the apolipoprotein E (APOE) ε4 allele in the clinical manifestations of spinocerebellar ataxia type 3 (SCA3) remains unclear. This study aimed to evaluate the impact of the APOE ε4 allele on cognitive and motor functions in SCA3 patients.

Methods

This study included 281 unrelated SCA3 patients and 182 controls. APOE genotypes were analyzed using PCR amplification combined with Sanger sequencing. Additionally, 96 SCA3 patients were prospectively recruited for neuropsychological and motor function assessments. Neuropsychological phenotypes were evaluated using the modified Chinese version of the Minimal Assessment of Cognitive Function in Multiple Sclerosis (MACFIMS). Motor function was assessed using the Scale for the Assessment and Rating of

SUBMITTER: Chen X 

PROVIDER: S-EPMC11680744 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature