导读
首例报道双等位基因 RFC1 扩增相关帕金森病（PD）的神经病理：表现为与临床 PD 一致的神经元内路易小体共核蛋白病，且未见 CANVAS 的神经病理特征。Unpaywall 标 Wiley gold OA，但本站出口仅得 Cloudflare 壳页；本文仅据 PubMed 摘要。
摘要
这是双等位基因 RFC1 扩增相关帕金森病（PD）的首例神经病理报告。表现为与临床 PD 诊断一致的神经元内路易小体共核蛋白病，同时未见 CANVAS（伴周围神经病与双侧前庭功能丧失的小脑共济失调）的神经病理特征。
Scope
PubMed abstract only. Unpaywall labeled Wiley gold OA, but the box egress only retrieved a Cloudflare shell HTML; full text was not collected.
Abstract
This is the first report of neuropathology in biallelic RFC1 expansion-associated Parkinson's disease (PD). It shows a synucleinopathy of intraneuronal Lewy bodies consistent with the clinical PD diagnosis while neuropathological CANVAS (Cerebellar Ataxia with Neuropathy and bilateral Vestibular Areflexia) features were absent.