The RAB32 p.Ser71Arg Variant in Parkinsonisms: Insights from a Large Italian Cohort.

ABSTRACT:

Background and objective

Recently, RAB32 has been identified as possibly linked to Parkinson's disease. We studied the prevalence and clinical correlates of the p.Ser71Arg variant in the RAB32 gene in a large case series of Italian patients with Parkinson's disease or atypical parkinsonism.

Methods

A single-center cohort with a case-control component (consecutively collected at the Parkinson Institute of Milan between 2002 and 2023) was screened for the RAB32 p.Ser71Arg variant. Detailed clinical characteristics of carriers were reviewed. Healthy control subjects were partners or unrelated caregivers. The variant was detected by a TaqMan polymerase chain reaction assay.

Results

A total of 4600 patients (3762 with PD and 838 with atypical parkinsonisms) and 1722 health

SUBMITTER: Magistrelli L 

PROVIDER: S-EPMC11926488 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature