Genetics of Frontotemporal Dementia

Abstract

Frontotemporal dementia (FTD) is a progressive brain disease characterized by atrophy of the frontal and anterior temporal lobes. The prevalence has been estimated between 10 and 30 per 100,000, and patients have severe changes in personality and behavior. The disease has a strong genetic component, and in up to 40 % of cases, a positive family history has been observed. To date, seven disease genes have been identifi ed, of which MAPT , GRN , and C9orf72 are most frequently mutated. In contrast to familial FTD, far less is known about sporadic FTD. GWAS reported TMEM106B as an important risk factor for FTD, and recently, new loci have been associated with the disease. In this chapter, we summarize the current insights into the genetics of FTD based on neuropathological and functional data.