The novel p.A30G SNCA pathogenic variant in Greek patients with familial and sporadic Parkinson's disease.

ABSTRACT:

Background

The p.A53T variant in the SNCA gene was considered, until recently, to be the only SNCA variant causing familial Parkinson's disease (PD) in the Greek population. We identified a novel heterozygous p.A30G (c.89 C>G) SNCA pathogenic variant in five affected individuals of three Greek families, leading to autosomal dominant PD. This study aims to further explore the presence and phenotypic expression of this variant in the Greek PD population.

Methods

Restriction fragment length polymorphism (RFLPs) was used for genotyping of 664 Greek PD cases. Detailed clinical information was obtained for the carriers and p.A30G-positive samples underwent haplotype analysis.

Results

We identified 10 additional p.A30G-positive PD patients (1.5%), of whom 4 were sporadic cas

SUBMITTER: Alefanti I 

PROVIDER: S-EPMC11775907 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature