Data di Pubblicazione:
2022
Citazione:
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]
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Dementia with lewy bodies; Genetics; Parkinson's disease; Review; VPS13C
Elenco autori:
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
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