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

Title
Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia
Author
김승현
Keywords
C9orf72; Frontotemporal dementia; GRN; Korean; MAPT; Mutation
Issue Date
2014-05
Publisher
ELSEVIER SCIENCE INC, 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA
Citation
NEUROBIOLOGY OF AGING, 35(5), 1213.e13
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. (C) 2014 Elsevier Inc. All rights reserved.
URI
http://www.sciencedirect.com/science/article/pii/S0197458013006179http://hdl.handle.net/20.500.11754/54297
ISSN
0197-4580; 1558-1497
DOI
10.1016/j.neurobiolaging.2013.11.033
Appears in Collections:
COLLEGE OF MEDICINE[S](의과대학) > ETC
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