title: Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia.
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.
authors.affiliation: Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, Korea.
authors.forename: Eun-Joo
authors.initials: EJ
authors.lastname: Kim
authors.affiliation: Department of Neurology, Changwon Fatima Hospital, Changwon, Korea.
authors.forename: Jay C
authors.initials: JC
authors.lastname: Kwon
authors.affiliation: Department of Neurology, Gachon University Gil Medical Center, Inchoen, Korea.
authors.forename: Kee Hyung
authors.initials: KH
authors.lastname: Park
authors.affiliation: Department of Neurology, Dong-A Medical Center, Dong-A University College of Medicine, Busan, Korea.
authors.forename: Kyung-Won
authors.initials: KW
authors.lastname: Park
authors.affiliation: Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Jae-Hong
authors.initials: JH
authors.lastname: Lee
authors.affiliation: Department of Neurology, Inha University School of Medicine, Incheon, Korea.
authors.forename: Seong Hye
authors.initials: SH
authors.lastname: Choi
authors.affiliation: Department of Neurology, Ewha Womans University Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.
authors.forename: Jee H
authors.initials: JH
authors.lastname: Jeong
authors.affiliation: Department of Neurology, Chonnam National University Medical School, Gwangju, Korea.
authors.forename: Byeong C
authors.initials: BC
authors.lastname: Kim
authors.affiliation: Department of Neurology, Eulji University Hospital, Eulji University School of Medicine, Daejeon, Korea.
authors.forename: Soo Jin
authors.initials: SJ
authors.lastname: Yoon
authors.affiliation: Department of Neurology, Chung-Ang University Hospital, Chung-Ang University College of Medicine, Seoul, Korea.
authors.forename: Young Chul
authors.initials: YC
authors.lastname: Yoon
authors.affiliation: Department of Neurology, Seoul National University College of Medicine and Clinical Neuroscience Center, Seoul National University Bundang Hospital, Seoul, Korea.
authors.forename: Sangyun
authors.initials: S
authors.lastname: Kim
authors.affiliation: Department of Neurology, College of Medicine, Kyung Hee University, Seoul, Korea.
authors.forename: Key-Chung
authors.initials: KC
authors.lastname: Park
authors.affiliation: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Byung-Ok
authors.initials: BO
authors.lastname: Choi
authors.affiliation: Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Duk L
authors.initials: DL
authors.lastname: Na
authors.affiliation: Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. Electronic address: changski@skku.edu.
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.affiliation: Department of Neurology, Hanyang University College of Medicine, Seoul, Korea. Electronic address: kimsh1@hanysng.ac.kr.
authors.forename: Seung Hyun
authors.initials: SH
authors.lastname: Kim
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics; D044466:Asian People / Q000235:genetics*; D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion; D005260:Female; D057180:Frontotemporal Dementia / Q000235:genetics*; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D000077153:Progranulins; D011506:Proteins / Q000235:genetics*; D016875:tau Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; C492314:GRN protein, human; D036341:Intercellular Signaling Peptides and Proteins; C054369:MAPT protein, human; D000077153:Progranulins; D011506:Proteins; D016875:tau Proteins
keywords: C9orf72; Frontotemporal dementia; GRN; Korean; MAPT; Mutation