Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia.

Shu-Man FengChun-Hui CheShu-Yan FengChang-Yun LiuLiu-Yi LiYuan-Xiao LiHua-Pin HuangZhang-Yu Zou

Published in: Annals of clinical and translational neurology (2019)

OPTN mutations contribute to ALS in Chinese population and account for 0.8% of sporadic ALS patients and 1.5% of familial ALS in the pooled Chinese ALS cohorts. Mutations in optineurin can cause aggressive ALS+/-FTD.

Keyphrases

amyotrophic lateral sclerosis
end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
prognostic factors
randomized controlled trial
phase iii