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Article

FUS P525L mutation causing amyotrophic lateral sclerosis and movement disorders.

Brain and behavior - 1 Jun 2020

Zhou Binbin, Wang Huan, Cai Yu, Wen Han, Wang Lulu, Zhu Min, Chen Yunqing, Yu Yanyan, Lu Xi, Zhou Meihong, Fang Pu, Li Xiaobing, Hong Daojun

Abstract excerpt

BACKGROUND: Mutations in the fused in sarcoma (FUS) gene have been associated with amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration, and essential tremor. Among the FUS mutations, p.P525L as a hot spot variant has been reported in more than 20 patients with ALS. Apart from the typical ALS phenotype, patients with p.P525L mutation exhibit some atypical symptoms. However, movement disorders...

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Identifiers

PMID: 32307925
DOI: 10.1002/brb3.1625
PMCID: PMC7303404

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