Selective genetic overlap between amyotrophic lateral sclerosis and diseases of the frontotemporal dementia spectrum
JAMA Neurology Apr 14, 2018
Karch CM, et al. - Experts investigated the presence of common genetic variants that identified the risk for amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases and attempted to identify their functional pathways. Novel genetic overlap was demonstrated between ALS and diseases of frontotemporal dementia (FTD) spectrum. It was noted that MAPT H1 haplotype conferred risk for ALS and determined the mitophagy-associated, proapoptotic protein BNIP1 as an ALS risk gene. The inference drawn was that sporadic ALS could depict a selectively pleiotropic, polygenic disorder.
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