Genetics of Frontotemporal Lobar Degeneration: From the Bench to the Clinic.
Frontotemporal lobar degeneration (FTLD) is a clinically heterogeneous neurodegenerative disease with a strong genetic component. In this review, we summarize most common mutations in MAPT, GRN, and C90RF72, as well as less common mutations in VCP, CHMP2B, TARDBP, FUS gene and so on. Several guidelines have been developed to help gene testing based on genotype-phenotype correlation, the underlying histopathological subtypes, and the neuroanatomic associations. Furthermore, we also summarize molecular pathways implicated by genes and novel targets for FTLD prevention and management in recent years.
Shan-Shan
SS
Tang
Jun
J
Li
Lan
L
Tan
Jin-Tai
JT
Yu
D000073885:C9orf72 Protein; D057174:Frontotemporal Lobar Degeneration / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D000077153:Progranulins; D011506:Proteins / Q000235:genetics; D016875:tau Proteins / Q000235:genetics
D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; C054369:MAPT protein, human; D000077153:Progranulins; D011506:Proteins; D016875:tau Proteins
Frontotemporal lobar degeneration; genes; genetic testing; mechanisms; neuroimaging; therapeutics