Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy.
Linlin WanZhao ChenNa WanMingjie LiuJin XueHongsheng ChenYouming ZhangYun PengZhichao TangYiqing GongHongyu YuanShang WangQi DengXuan HouChunrong WangHuirong PengYuting ShiLinliu PengLijing LeiRanhui DuanKun XiaRong QiuLu ShenBeisha TangTetsuo AshizawaJiang HongPublished in: Annals of neurology (2020)
Our results expanded the clinical phenotypic spectrum of RFC1-related disorders and raised the possibility that MSA might share the same genetic background as CANVAS, which is crucial for re-evaluating the current CANVAS and MSA diagnostic criteria. ANN NEUROL 2020;88:1132-1143.