Genetic factors in frontotemporal dementia: A review

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• 作者：Lingyan Shen (1)
  Eva Bagyinszky (1)
  Young Chul Youn (2)
  Seong Soo A. An (1)
  SangYun Kim (3)
  
• 关键词：FTD ; Mutation ; Dementia ; PGRN ; MAPT ; C9orf72 ; TARDBP ; VCP ; FUS ; CHMP2B
• 刊名：Toxicology and Environmental Health Sciences
• 出版年：2013
• 出版时间：September 2013
• 年：2013
• 卷：5
• 期：3
• 页码：113-130
• 全文大小：
• 作者单位：Lingyan Shen (1)
  Eva Bagyinszky (1)
  Young Chul Youn (2)
  Seong Soo A. An (1)
  SangYun Kim (3)
  
  1. College of Bionano Technology, Gachon Bionano Research Institute, Gachon University, Seongnam, South Korea
  2. Department of Neurology, Chung-Ang University College of Medicine, Seoul, Korea
  3. Department of Neurology, School of Medicine, Seoul National University Bundang Hospital, Seoul, Korea
  
• ISSN：2233-7784

文摘

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.