Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2022 Jan:94:37-39.
doi: 10.1016/j.parkreldis.2021.11.031. Epub 2021 Dec 1.

VPS13C-associated Parkinson's disease: Two novel cases and review of the literature

Affiliations
Review

VPS13C-associated Parkinson's disease: Two novel cases and review of the literature

Edoardo Monfrini et al. Parkinsonism Relat Disord. 2022 Jan.

Abstract

VPS13C is a protein-coding gene involved in the regulation of mitochondrial function through the endolysosomal pathway in neurons. Homozygous and compound heterozygous VPS13C mutations are etiologically associated with early-onset Parkinson's disease (PD). Moreover, recent studies linked biallelic VPS13C mutations with the development of dementia with Lewy bodies (DLB). Neuropathological studies on two mutated subjects showed diffuse Lewy body disease. In this article, we report the clinical and genetic findings of two subjects affected by early-onset PD carrying three novel VPS13C mutations (i.e., one homozygous and one compound heterozygous), and review the previous literature on the genetic and clinical findings of VPS13C-mutated patients, contributing to the knowledge of this rare genetic alpha-synucleinopathy.

Keywords: Dementia with lewy bodies; Genetics; Parkinson's disease; Review; VPS13C.

PubMed Disclaimer