Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy.

ABSTRACT:

Background

Multiple System Atrophy is a rare neurodegenerative disease with alpha-synuclein aggregation in glial cytoplasmic inclusions and either predominant olivopontocerebellar atrophy or striatonigral degeneration, leading to dysautonomia, parkinsonism, and cerebellar ataxia. One prior genome-wide association study in mainly clinically diagnosed patients with Multiple System Atrophy failed to identify genetic variants predisposing for the disease.

Objective

Since the clinical diagnosis of Multiple System Atrophy yields a high rate of misdiagnosis when compared to the neuropathological gold standard, we studied only autopsy-confirmed cases.

Methods

We studied common genetic variations in Multiple System Atrophy cases (N = 731) and controls (N = 2898).

Results

SUBMITTER: Hopfner F 

PROVIDER: S-EPMC10052809 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature