• Neurobiology of aging · May 2014

    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, Sangyun Kim, Key-Chung Park, Byung-Ok Choi, Duk L Na, Chang-Seok Ki, and Seung Hyun Kim.
    • Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, Korea.
    • Neurobiol. Aging. 2014 May 1; 35 (5): 1213.e13-7.

    AbstractThe 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. Copyright © 2014 Elsevier Inc. All rights reserved.

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