Literature DB >> 27104909

Genetics of Frontotemporal Lobar Degeneration: From the Bench to the Clinic.

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

Mesh:

Substances:

Year:  2016        PMID: 27104909     DOI: 10.3233/JAD-160236

Source DB:  PubMed          Journal:  J Alzheimers Dis        ISSN: 1387-2877            Impact factor:   4.472


  2 in total

1.  Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.

Authors:  Emilia M Gatto; Ricardo F Allegri; Gustavo Da Prat; Patricio Chrem Mendez; David S Hanna; Michael O Dorschner; Ezequiel I Surace; Cyrus P Zabetian; Ignacio F Mata
Journal:  Neurobiol Aging       Date:  2017-02-10       Impact factor: 4.673

2.  Genetic risk for neurodegenerative disorders, and its overlap with cognitive ability and physical function.

Authors:  Saskia P Hagenaars; Ratko Radaković; Christopher Crockford; Chloe Fawns-Ritchie; Sarah E Harris; Catharine R Gale; Ian J Deary
Journal:  PLoS One       Date:  2018-06-01       Impact factor: 3.240

  2 in total

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