Article record

一例帕金森病伴RFC1双等位基因扩增患者的神经病理学

Neuropathology of a patient with Parkinson's disease and biallelic expansion in RFC1.

基础研究耳科IF 5.7Q1

文献信息

PMID	42757740
原文	在 PubMed 查看原文 ↗
发表日期	2026
作者	Jussi Sipilä 查看其他 3 位作者 Tuomas Rauramaa；Laura Kytövuori；Kari Majamaa
作者单位	Department of Neurology, North Karelia Central Hospital, Wellbeing Services County of North Karelia - Siun Sote, Joensuu, Finland. 查看其他 6 条单位信息 Neurology, Institute of Clinical Medicine, School of Medicine, Faculty of Health Sciences, University of Eastern Finland, Joensuu, Finland.；Unit of Pathology, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.；Department of Pathology, Kuopio University Hospital, Kuopio, Finland.；Research Unit of Clinical Medicine, University of Oulu and Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.；Neurocenter, Neurology, Oulu University Hospital, Oulu, Finland.；Tampere Neuromuscular Center, Tampere University Hospital and Tampere University, Tampere, Finland.
期刊	Brain pathology (Zurich, Switzerland)
SCI 分区	Q1
IF	5.7
研究类型	基础研究 · 基础／转化
所属专科	耳科

中文摘要

这是首例关于RFC1双等位基因扩增相关帕金森病（PD）神经病理学的报告。它显示了与临床PD诊断相符的神经元内路易小体突触核蛋白病，而神经病理学上的CANVAS（小脑性共济失调伴神经病和双侧前庭反射消失）特征缺失。

英文摘要

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.