Dino Ferrari Center, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy; Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neurology Unit, Milan, Italy.
Neurological Department, Antonio Perrino's Hospital, Brindisi, Italy.
Parkinsonism Relat Disord. 2022 Jan;94:37-39. doi: 10.1016/j.parkreldis.2021.11.031. Epub 2021 Dec 1.
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 是一个蛋白编码基因，通过神经元内的内溶酶体途径参与线粒体功能的调节。VPS13C 基因的纯合子和复合杂合子突变与早发性帕金森病（PD）的发生有关。此外，最近的研究将双等位基因 VPS13C 突变与路易体痴呆（DLB）的发展联系起来。对两个突变个体的神经病理学研究显示弥漫性路易体病。在本文中，我们报告了两个受影响的早发性 PD 患者的临床和遗传发现，他们携带三个新的 VPS13C 突变（即一个纯合子和一个复合杂合子），并回顾了以前关于 VPS13C 突变患者的遗传和临床发现的文献，有助于了解这种罕见的遗传α-突触核蛋白病。
