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Neurobiol Aging. 2018 Dec;72:186.e1-186.e7. doi: 10.1016/j.neurobiolaging.2018.06.031. Epub 2018 Jun 30.

Analysis of frontotemporal dementia, amyotrophic lateral sclerosis, and other dementia-related genes in 107 Korean patients with frontotemporal dementia.

Author information

1
Department of Neurology, Pusan National University Hospital, Pusan National University School of Medicine and Medical Research Institute, Busan, Republic of Korea.
2
Department of Laboratory Medicine, Hanyang University College of Medicine, Seoul, Republic of Korea.
3
Green Cross Genome, Yongin, Gyeonggi-do, Republic of Korea.
4
Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
5
Department of Neurology, Pusan National University Yangsan Hospital, Research Institute for Convergence of Biomedical Science and Technology, Busan, Republic of Korea.
6
Department of Neurology, Ewha Womans University Hospital, Seoul, Republic of Korea.
7
Department of Neurology, Changwon Fatima Hospital, Changwon, Gyeongsangnam-do, Republic of Korea.
8
Department of Neurology, Gachon University Gil Hospital, Incheon, Republic of Korea.
9
Department of Neurology, Dong-A Medical Center, Dong-A University College of Medicine, Busan, Republic of Korea.
10
Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
11
Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea.
12
Department of Neurology, Eulgi University Hospital, Daejeon, Republic of Korea.
13
Department of Neurology, Inha University School of Medicine, Incheon, Republic of Korea.
14
Department of Neurology, Kangwon National University Hospital, Chuncheon, Republic of Korea.
15
Green Cross Genome, Yongin, Gyeonggi-do, Republic of Korea. Electronic address: changski.md@gmail.com.
16
Department of Neurology, Hanyang University College of Medicine, Seoul, Republic of Korea. Electronic address: kimsh1@hanyang.ac.kr.

Abstract

To identify pathogenic variants in 107 Korean patients with sporadic frontotemporal dementia (FTD), 46 genes related to FTD, amyotrophic lateral sclerosis, and other dementias were screened by next-generation sequencing. Hexanucleotide repeats in C9orf72 gene were also tested by repeat-primed polymerase chain reaction. Next-generation sequencing revealed one known pathogenic variant (c.708+1G>A) in the GRN gene in a patient with behavioral variant FTD (bvFTD). In addition, a novel in-frame deletion (c.2675_2683del) in the CSF1R gene was identified in a patient with bvFTD who had severe bifrontal atrophy with frontal subcortical white matter changes. Novel compound heterozygous variants in the AARS2 gene, c.1040+1G>A and c.636G>A (p.Met212Ile), were found in a patient with bvFTD. Forty-six variants of uncertain significance were detected in other patients. None of the patients had expanded hexanucleotide repeats in C9orf72. These results show that pathogenic variants of known FTD genes are rare in Korean FTD patients but the CSF1R and AARS2 genes should be screened for a genetic diagnosis of FTD or other dementias.

KEYWORDS:

AARS2; CSF1R; Frontotemporal dementia; GRN; Next-generation sequencing

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