Toxicology and Environmental Health Sciences

, Volume 5, Issue 3, pp 113–130 | Cite as

Genetic factors in frontotemporal dementia: A review

  • Lingyan Shen
  • Eva Bagyinszky
  • Young Chul Youn
  • Seong Soo A. AnEmail author
  • SangYun KimEmail author
Mini Review


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.


FTD Mutation Dementia PGRN MAPT C9orf72 TARDBP VCP FUS CHMP2B 


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Copyright information

© Korean Society of Environmental Risk Assessment and Health Science and Springer Science+Business Media Dordrecht 2013

Authors and Affiliations

  1. 1.College of Bionano Technology, Gachon Bionano Research InstituteGachon UniversitySeongnamSouth Korea
  2. 2.Department of NeurologyChung-Ang University College of MedicineSeoulKorea
  3. 3.Department of Neurology, School of MedicineSeoul National University Bundang HospitalSeoulKorea

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