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Analysis of frontotemporal dementia, amyotrophic lateral sclerosis, and other dementia-related genes in 107 Korean patients with frontotemporal dementia
- Title
- Analysis of frontotemporal dementia, amyotrophic lateral sclerosis, and other dementia-related genes in 107 Korean patients with frontotemporal dementia
- Authors
- Kim, Eun-Joo; Kim, Young-Eun; Jang, Ja-Hyun; Cho, Eun-Hae; Na, Duk L.; Seo, Sang Won; Jung, Na-Yeon; Jeong, Jee H.; Kwon, Jay C.; Park, Kee Hyung; Park, Kyung Won; Lee, Jae-Hong; Roh, Jee Hoon; Kim, Hee-Jin; Yoon, Soo Jin; Choi, Seong Hye; Jang, Jae-Won; Ki, Chang-Seok; Kim, Seung Hyun
- Ewha Authors
- 정지향
- SCOPUS Author ID
- 정지향
- Issue Date
- 2018
- Journal Title
- NEUROBIOLOGY OF AGING
- ISSN
- 0197-4580
1558-1497
- Citation
- NEUROBIOLOGY OF AGING vol. 72
- Keywords
- AARS2; CSF1R; Frontotemporal dementia; GRN; Next-generation sequencing
- Publisher
- ELSEVIER SCIENCE INC
- Indexed
- SCIE; SCOPUS
- Document Type
- Article
- 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 inframe 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. (C) 2018 Elsevier Inc. All rights reserved.
- DOI
- 10.1016/j.neurobiolaging.2018.06.031
- Appears in Collections:
- 의과대학 > 의학과 > Journal papers
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