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.

VPS13C-associated Parkinson's disease : Two novel cases and review of the literature / E. Monfrini, F. Spagnolo, M. Canesi, A. Seresini, B. Passarella, M. Percetti, M. Seia, S. Goldwurm, V. Cereda, G.P. Comi, G. Pezzoli, A. Di Fonzo. - In: PARKINSONISM & RELATED DISORDERS. - ISSN 1353-8020. - 94(2022), pp. 37-39. [10.1016/j.parkreldis.2021.11.031]

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

E. Monfrini
Primo
;
G.P. Comi;
2022

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.
Dementia with lewy bodies; Genetics; Parkinson's disease; Review; VPS13C
Settore MED/26 - Neurologia
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/890280
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