Integrating functional genomics with genetics to understand the biology of ALS and FTD

Abstract

Genetic variants in chromosome 19 are strongly associated with frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Ma et al.¹ and Brown et al.² demonstrated that this association was driven by variation in UNC13A and that the underlying mechanism involved aberrant TDP-43 localization, a known pathological hallmark of both diseases.