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Genetic factors in frontotemporal dementia: A review

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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.

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Authors and Affiliations

  1. College of Bionano Technology, Gachon Bionano Research Institute, Gachon University, Seongnam, South Korea

    Lingyan Shen, Eva Bagyinszky & Seong Soo A. An

  2. Department of Neurology, Chung-Ang University College of Medicine, Seoul, Korea

    Young Chul Youn

  3. Department of Neurology, School of Medicine, Seoul National University Bundang Hospital, Seoul, Korea

    SangYun Kim

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  1. Lingyan Shen
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  2. Eva Bagyinszky
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  3. Young Chul Youn
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  4. Seong Soo A. An
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Correspondence to Seong Soo A. An or SangYun Kim.

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These authors contributed equally to this work.

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Shen, L., Bagyinszky, E., Youn, Y.C. et al. Genetic factors in frontotemporal dementia: A review. Toxicol. Environ. Health Sci. 5, 113–130 (2013). https://doi.org/10.1007/s13530-013-0165-6

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