VPS13C-associated Parkinson's disease: Two novel cases and review of the literature.
Dementia with lewy bodies
Genetics
Parkinson's disease
Review
VPS13C
Journal
Parkinsonism & related disorders
ISSN: 1873-5126
Titre abrégé: Parkinsonism Relat Disord
Pays: England
ID NLM: 9513583
Informations de publication
Date de publication:
01 2022
01 2022
Historique:
received:
28
09
2021
revised:
20
11
2021
accepted:
28
11
2021
pubmed:
8
12
2021
medline:
19
4
2022
entrez:
7
12
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 34875562
pii: S1353-8020(21)00438-7
doi: 10.1016/j.parkreldis.2021.11.031
pii:
doi:
Substances chimiques
Proteins
0
VPS13C protein, human
0
Types de publication
Letter
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
37-39Informations de copyright
Copyright © 2021 Elsevier Ltd. All rights reserved.