Аннотация:The TMEM106B risk allele is associated with lower cortical volumes in a clinically diagnosed frontotemporal dementia cohort intRoduction Frontotemporal dementia (FTD) is a neurodegenerative disease associated with impaired behaviour, language and motor function.Around a third of FTD is familial, with mutations in microtubule-associated protein tau (MAPT), progranulin (GRN) and chromosome 9 open reading frame 72 (C9orf72) being the most common genetic causes.No other risk factors for FTD had been identified until a genome-wide association study of patients with the most common pathological form of FTD, frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP), showed an association with single nucleotide polymorphisms (SNPs) in a region encoding transmembrane protein 106b (TMEM106b). 1 For the rs1990622 SNP the minor G allele was found to be less common in patients with FTLD-TDP than in a healthy control population, that is, those expressing this allele were less likely to develop disease, and this effect was greatest in those with GRN mutations (who have on August 21, 2023 by guest.
