Peripheral cutaneous synucleinopathy characteristics in genetic Parkinson's disease.

ABSTRACT:

Background

Cutaneous phosphorylated alpha-synuclein (p-α-syn) deposition is an important biomarker of idiopathic Parkinson's disease (iPD). Recent studies have reported synucleinopathies in patients with common genetic forms of PD.

Objective

This study aimed to detect p-α-syn deposition characteristic in rare genetic PD patients with CHCHD2 or RAB39B mutations. Moreover, this study also aimed to describe peripheral alpha-synuclein prion-like activity in genetic PD patients, and acquire whether the cutaneous synucleinopathy characteristics of genetic PD are consistent with central neuropathologies.

Methods

We performed four skin biopsy samples from the distal leg (DL) and proximal neck (C7) of 161 participants, including four patients with CHCHD2 m

SUBMITTER: Yuan Y 

PROVIDER: S-EPMC11094647 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature