Affiliations: Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, China
Correspondence:
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Correspondence to: Lan Tan and Jin-Tai Yu, Department of Neurology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, China. Tel./Fax: +86 532 8890 5659; E-mails: dr.tanlan@163.com (Lan Tan), yu-jintai@163.com or Jintai.yu@ucsf.edu (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.
