Article
FUS gene mutation in amyotrophic lateral sclerosis: a new case report and systematic review.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Feb 2024
Xiao Xin, Li Min, Ye Zhi, He Xiaoyan, Wei Jun, Zha Yunhong
Abstract excerpt
OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease associated with upper and lower motor neuron degeneration and necrosis, characterized by progressive muscle weakness, atrophy, and paralysis. The FUS mutation-associated ALS has been classified as ALS6. We reported a case of ALS6 with de novo mutation and investigated retrospectively the characteristics of cases with FUS mutation....
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