학술논문
Mapping the genetic landscape of early-onset Alzheimer’s disease in a cohort of 36 families
Document Type
article
Author
Source
Alzheimer’s Research & Therapy, Vol 14, Iss 1, Pp 1-14 (2022)
Subject
Language
English
ISSN
1758-9193
Abstract
Abstract Background Many families with clinical early-onset Alzheimer’s disease (EOAD) remain genetically unexplained. A combination of genetic factors is not standardly investigated. In addition to monogenic causes, we evaluated the possible polygenic architecture in a large series of families, to assess if genetic testing of familial EOAD could be expanded. Methods Thirty-six pedigrees (77 patients) were ascertained from a larger cohort of patients, with relationships determined by genetic data (exome sequencing data and/or SNP arrays). All families included at least one AD patient with symptom onset