Journal
PARKINSONISM & RELATED DISORDERS
Volume 94, Issue -, Pages 37-39Publisher
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2021.11.031
Keywords
Parkinson 's disease; Dementia with lewy bodies; Genetics; Review
Categories
Ask authors/readers for more resources
VPS13C mutations are associated with early-onset Parkinson's disease and dementia with Lewy bodies. Neuropathological studies on two mutated subjects showed diffuse Lewy body disease.
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available