A Novel SNCA A30G Mutation Causes Familial Parkinson’s Disease

A Novel SNCA A30G Mutation Causes Familial Parkinson’s Disease
Mov Disord. 2021 Feb 22. doi: 10.1002/mds.28534. Online ahead of print.ABSTRACTBACKGROUND: The SNCA gene encoding α-synuclein (αSyn) is the first gene identified to cause autosomal-dominant Parkinson's disease (PD).OBJECTIVE: We report the identification of a novel heterozygous A30G mutation of the SNCA gene in familial PD and describe clinical features of affected patients, genetic findings, and functional consequences.METHODS: Whole exome sequencing ... read more
Source: PubMedPublished on 2021-02-22By Hui Liu