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Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease.
Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease.
- Source :
-
Neurobiology of Aging . Jan2020, Vol. 85, p155.e5-155.e8. 1p. - Publication Year :
- 2020
-
Abstract
- There is a genetic overlap among various neurodegenerative diseases that cause dementia. We analyzed dementia-related gene variants in 60 apolipoprotein E ε4 non-carrying Korean patients with early-onset Alzheimer's disease. Thirty-one dementia-related genes were screened by exome sequencing. Among the 60 patients, three likely pathogenic variants (LPVs) and 1 variant of uncertain significance (VUS) were identified in PSEN1. In addition, two LPVs in TYROBP (c.141del) and PINK1 (c.1220G>A) and 17 VUS were found in other dementia-causing genes. Two variants in SORL1 and TREM2 were identified that were associated with Alzheimer's disease. In this study, we identified 5 (8.3%) LPVs and 18 (30%) VUSs in known dementia-related genes in apolipoprotein E ε4 noncarrying Korean patients with early-onset Alzheimer's disease. • We analyzed 31 dementia-related genes in 60 apolipoprotein E ε4 noncarrying patients with early-onset Alzheimer's disease. • Three likely pathogenic and 1 variant of uncertain significance in PSEN1 were identified. • Two likely pathogenic variant in PINK1 and TYROBP were identified, respectively. • A third of patients carried at least one variant of uncertain significance. [ABSTRACT FROM AUTHOR]
- Subjects :
- *ALZHEIMER'S patients
*APOLIPOPROTEIN E
*APOLIPOPROTEIN E4
*ALZHEIMER'S disease
Subjects
Details
- Language :
- English
- ISSN :
- 01974580
- Volume :
- 85
- Database :
- Academic Search Index
- Journal :
- Neurobiology of Aging
- Publication Type :
- Academic Journal
- Accession number :
- 140207123
- Full Text :
- https://doi.org/10.1016/j.neurobiolaging.2019.05.009