Frequency of spinocerebellar ataxia mutations in patients with multiple system atrophy.

ABSTRACT:

Purpose

Investigate single nucleotide variants and short tandem repeats in 39 genes related to spinocerebellar ataxia in clinical and pathologically defined cohorts of multiple system atrophy.

Methods

Exome sequencing was conducted in 28 clinical multiple system atrophy patients to identify single nucleotide variants in spinocerebellar ataxia-related genes. Novel variants were validated in two independent disease cohorts: 86 clinically diagnosed multiple system atrophy patients and 166 pathological multiple system atrophy cases. Expanded repeat alleles in spinocerebellar ataxia genes were evaluated in 36 clinically diagnosed multiple system atrophy patients, and CAG/CAA repeats in TATA-Box Binding Protein (TBP, causative of SCA17) were screened in 216 clinical and pathologic

SUBMITTER: Wernick AI 

PROVIDER: S-EPMC9302534 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature