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

Autor:	Edoardo Monfrini, Francesca Spagnolo, Margherita Canesi, Agostino Seresini, Augusto Rini, Bruno Passarella, Marco Percetti, Manuela Seia, Stefano Goldwurm, Viviana Cereda, Giacomo P. Comi, Gianni Pezzoli, Alessio Di Fonzo
Rok vydání:	2022
Předmět:	Lewy Body Disease Pediatrics medicine.medical_specialty Parkinson's disease business.industry Homozygote Proteins Parkinson Disease medicine.disease Neurology Mutation Humans Medicine Neurology (clinical) Geriatrics and Gerontology business
Zdroj:	Parkinsonism & Related Disorders. 94:37-39
ISSN:	1353-8020
DOI:	10.1016/j.parkreldis.2021.11.031
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::377d2642320a4ec053a4849a1987d0d5 https://doi.org/10.1016/j.parkreldis.2021.11.031 Zobrazit plný text záznamu Full Text from ScienceDirect