Article
PFN1 mutations are rare in Han Chinese populations with amyotrophic lateral sclerosis.
Neurobiology of aging - 1 Jul 2013
Chen YongPing, Zheng Zhen-Zhen, Huang Rui, Chen Ke, Song Wei, Zhao Bi, Chen XuePing, Yang Yuan, Yuan LiXing, Shang Hui-Fang
Abstract excerpt
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with unknown pathophysiological mechanisms. Profilin 1 gene (PFN1) has been identified as a causative gene, which accounts for 1% to 2% of familial ALS. In this study, we investigated the mutation spectrum of PFN1 in Chinese patients with ALS. A total of 550 ALS patients (including 540 sporadic ALS [SALS] and 10 familial ALS) from the...
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