| Literature DB >> 27104909 |
Shan-Shan Tang, Jun Li, Lan Tan, Jin-Tai Yu.
Abstract
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.Entities:
Keywords: Frontotemporal lobar degeneration; genes; genetic testing; mechanisms; neuroimaging; therapeutics
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Year: 2016 PMID: 27104909 DOI: 10.3233/JAD-160236
Source DB: PubMed Journal: J Alzheimers Dis ISSN: 1387-2877 Impact factor: 4.472