Recent Advances in the Genetics of Frontotemporal Dementia

AbstractPurpose of ReviewIn this review, we highlight recent advances in the human genetics of frontotemporal dementia (FTD). In addition to providing a broad survey of genes implicated in FTD in the last several years, we also discuss variation in genes implicated in both hereditary leukodystrophies and risk for FTD (e.g.,TREM2,TMEM106B,CSF1R,AARS2,NOTCH3).Recent FindingsOver the past 5  years, genetic variation in approximately 50 genes has been confirmed or suggested to cause or influence risk for FTD and FTD-spectrum disorders. We first give background and discuss recent findings related toC9ORF72,GRN, andMAPT, the genes most commonly implicated in FTD. We then provide a broad overview of other FTD-associated genes and go on to discuss new findings in FTD genetics in East Asian populations, including pathogenic variation inCHCHD10, which may represent a frequent cause of disease in Chinese populations. Finally, we consider recent insights gleaned from genome-wide association and genetic pleiotropy studies.SummaryRecent genetic discoveries highlight cellular pathways involving autophagy, the endolysosomal system, and neuroinflammation and reveal an intriguing overlap between genes that confer risk for leukodystrophy and FTD.

Source: Current Genetic Medicine Reports - January 30, 2019 Category: Genetics & Stem Cells Source Type: research