Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia

Eun Joo Kim, Jay C. Kwon, Kee Hyung Park, Kyung Won Park, Jae Hong Lee, Seong Hye Choi, Jee H. Jeong, Byeong C. Kim, Soo Jin Yoon, Young Chul Yoon, Sang Yun Kim, Key Chung Park, Byung Ok Choi, Duk L. Na, Chang Seok Ki, Seung Hyun Kim

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Abstract

The hexanucleotide repeat expansion (GGGGCC) in chromosome 9 open-reading frame 72 (C9orf72) and mutations in the microtubule-associated protein tau (MAPT) and progranulin (GRN) genes are known to be associated with the main causes of familial or sporadic amyotrophic lateral sclerosis and frontotemporal dementia (FTD) in Western populations. These genetic abnormalities have rarely been studied in Asian FTD populations. We investigated the frequencies of mutations in MAPT and GRN and the C9orf72 abnormal expansion in 75 Korean FTD patients. Two novel missense variants of unknown significance in the MAPT and GRN were detected in each gene. However, neither abnormal C9orf72 expansion nor pathogenic MAPT or GRN mutation was found. Our findings indicate that MAPT, GRN, and C9orf72 mutations are rare causes of FTD in Korean patients.

Original languageEnglish
Pages (from-to)1213.e13-1213.e17
JournalNeurobiology of Aging
Volume35
Issue number5
DOIs
StatePublished - May 2014

Keywords

  • C9orf72
  • Frontotemporal dementia
  • GRN
  • Korean
  • MAPT
  • Mutation

Cite this

Kim, E. J., Kwon, J. C., Park, K. H., Park, K. W., Lee, J. H., Choi, S. H., Jeong, J. H., Kim, B. C., Yoon, S. J., Yoon, Y. C., Kim, S. Y., Park, K. C., Choi, B. O., Na, D. L., Ki, C. S., & Kim, S. H. (2014). Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia. Neurobiology of Aging, 35(5), 1213.e13-1213.e17. https://doi.org/10.1016/j.neurobiolaging.2013.11.033