C9orf72-mediated ALS and FTD: multiple pathways to disease

C9orf72-mediated ALS and FTD: multiple pathways to disease<i>C9orf72</i>-mediated ALS and FTD: multiple pathways to disease, Published online: 17 August 2018; doi:10.1038/s41582-018-0047-2Repeat expansions in the C9orf72 gene are a frequent cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Balendra and Isaacs review the pathological and mechanistic features of C9orf72-associated ALS and FTD, highlighting loss-of-function, gain-of-function and downstream mechanisms.

Source: Nature Reviews Neurology - August 17, 2018 Category: Neurology Authors: Rubika Balendra Adrian M. Isaacs Source Type: research