Article
NEK1 and GRN mutations coexist in a sporadic Chinese Hui descent ALS patient.
Amyotrophic lateral sclerosis & frontotemporal degeneration - 1 Nov 2020
Zhang Kang, Lu Yan, Chen Jianhong, Li Jian, Yadav Kamal Kishor, Yin Jiao, Yang Xiao
Abstract excerpt
We describe a sporadic amyotrophic lateral sclerosis (ALS) patient who presented rapid progress of muscle weakness and died of respiratory failure one and a half years after onset. Genetic analysis revealed a novel ALS-causing gene NEK1 nonsense mutation p.K1210* and a known pathogenic frontotemporal lobar degeneration (FTD)-causing gene GRN mutation p.C139R. It is rare for ALS patients to carry two different...
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