Article
Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1-related spectrum.
Annals of clinical and translational neurology - 1 Dec 2022
Han Xiaochen, Zhan Feixia, Yao Yuxin, Cao Li, Liu Jianguo, Yao Sheng
Abstract excerpt
OBJECTIVE: Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early awareness of the ALS variant. Furtherly, a literature review of the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
