Genetic factors in frontotemporal dementia: A review
- Authors
- Shen, L.; Bagyinszky, E.; Youn, Y.C.; An, S.S.A.; Kim, S.Y.
- Issue Date
- 2013
- Keywords
- C9orf72; CHMP2B; Dementia; FTD; FUS; MAPT; Mutation; PGRN; TARDBP; VCP
- Citation
- Toxicology and Environmental Health Sciences, v.5, no.3, pp.113 - 130
- Journal Title
- Toxicology and Environmental Health Sciences
- Volume
- 5
- Number
- 3
- Start Page
- 113
- End Page
- 130
- URI
- https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/14938
- DOI
- 10.1007/s13530-013-0165-6
- ISSN
- 2005-9752
- Abstract
- Frontotemporal dementia (FTD) is the second most common form of neurogenerative dementia, following Alzheimer's disease (AD). FTD is a clinically and phenotypically heterogeneous disorder, which occurs mostly in younger patients under 60 years of age. Several genes were described to be involved in FTD: progranulin (PGRN), microtubule-associated protein tau (MAPT), chromosome 9 open reading frame 72 (C9orf72), fused in sarcoma (FUS), TAR DNA binding protein-43 (TARDBP), valosin-containing protein (VCP), and charged multivesicular body protein 2B (CHMP 2B). Genome-wide association studies (GWAS) identified additional putative FTD risk factor genes, such as transmembrane protein 106B (TMEM106B) or ubiquilin-2 (UBQLN2). Improvements in genetic analysis could enhance the differential diagnosis for neurodegenerative disorders, especially FTD. This review summarized the FTD-associated genes, mutations and the latest methods for genetic analysis. © 2013 Korean Society of Environmental Risk Assessment and Health Science and Springer Science+Business Media Dordrecht.
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