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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-JooKim, Young-EunJang, Ja-HyunCho, Eun-HaeNa, Duk L.Seo, Sang WonJung, Na-YeonJeong, Jee H.Kwon, Jay C.Park, Kee HyungPark, Kyung WonLee, Jae-HongRoh, Jee HoonKim, Hee-JinYoon, Soo JinChoi, Seong HyeJang, Jae-WonKi, Chang-SeokKim, Seung Hyun
Ewha Authors
정지향
SCOPUS Author ID
정지향scopusscopus
Issue Date
2018
Journal Title
NEUROBIOLOGY OF AGING
ISSN
0197-4580JCR Link

1558-1497JCR Link
Citation
NEUROBIOLOGY OF AGING vol. 72
Keywords
AARS2CSF1RFrontotemporal dementiaGRNNext-generation sequencing
Publisher
ELSEVIER SCIENCE INC
Indexed
SCIE; SCOPUS WOS 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
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의과대학 > 의학과 > Journal papers
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