Mutation spectrum of chinese amyotrophic lateral sclerosis patients with frontotemporal dementia.

Xunzhe YangXiaohai SunQing LiuLiyang LiuJinyue LiZhengyi CaiKang ZhangShuangwu LiuDi HeDongchao ShenMingsheng LiuLiying CuiXue Zhang

Published in: Orphanet journal of rare diseases (2022)

Our findings provide an overview of spectrum of genetic variants in Chinese ALS-FTD patients. Variants of uncertain significance in UBQLN2, ANXA11 and CCNF were identified and further studies are required for causal relations of these variants with ALS-FTD.

Keyphrases

amyotrophic lateral sclerosis
end stage renal disease
copy number
ejection fraction
chronic kidney disease
newly diagnosed
prognostic factors
gene expression