Article
Biallelic Intronic AAGGG Expansion of RFC1 is Related to Multiple System Atrophy.
Annals of neurology - 1 Dec 2020
Wan Linlin, Chen Zhao, Wan Na, Liu Mingjie, Xue Jin, Chen Hongsheng, Zhang Youming, Peng Yun, Tang Zhichao, Gong Yiqing, Yuan Hongyu, Wang Shang, Deng Qi, Hou Xuan, Wang Chunrong, Peng Huirong, Shi Yuting, Peng Linliu, Lei Lijing, Duan Ranhui, Xia Kun, Qiu Rong, Shen Lu, Tang Beisha, Ashizawa Tetsuo, Jiang Hong
Abstract excerpt
OBJECTIVE: A recessive biallelic repeat expansion, (AAGGG)exp , in the RFC1 gene has been reported to be a frequent cause of late-onset ataxia. For cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS), the recessive biallelic (AAGGG)exp genotype was present in ~92% of cases. This study aimed to examine whether the pentanucleotide repeat (PNR) was related to multiple system atrophy (MSA),...
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