Novel mutation in optineurin causing aggressive ALS frontotemporal dementia
Author: Feng, Shu-Man , Che, Chun-Hui , Feng, Shu-Yan , Liu, Chang-Yun , et al Category: ALS, Dementia, Genetics, Neurology Publisher: Annals of Clinical and Translational Neurology (Wiley) Published: 15 December 2019 DOI: 10.1002/acn3.50928 More Details
Abstract:
This study reports a novel mutation in the optineurin (OPTN) gene associated with aggressive amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The findings expand the genetic spectrum of ALS/FTD and suggest that OPTN mutations can lead to rapidly progressive neurodegenerative phenotypes.