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

Eun Joo Kim, Young Eun Kim, Ja Hyun Jang, Eun Hae Cho, Duk L. Na, Sang Won Seo, Na Yeon Jung, Jee H. Jeong, Jay C. Kwon, Kee Hyung Park, Kyung Won Park, Jae Hong Lee, Jee Hoon Roh, Hee Jin Kim, Soo Jin Yoon, Seong Hye Choi, Jae Won Jang, Chang Seok Ki, Seung Hyun Kim

Research output: Contribution to journalArticlepeer-review

19 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)186.e1-186.e7
JournalNeurobiology of Aging
Volume72
DOIs
Publication statusPublished - 2018 Dec
Externally publishedYes

Keywords

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

ASJC Scopus subject areas

  • Neuroscience(all)
  • Ageing
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology

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