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Mapping the genetic landscape of early-onset Alzheimer’s disease in a cohort of 36 families

Bibliographic Details
Title: Mapping the genetic landscape of early-onset Alzheimer’s disease in a cohort of 36 families
Authors: Merel O. Mol, Sven J. van der Lee, Marc Hulsman, Yolande A. L. Pijnenburg, Phillip Scheltens, Netherlands Brain Bank, Harro Seelaar, John C. van Swieten, Laura Donker Kaat, Henne Holstege, Jeroen G. J. van Rooij
Source: Alzheimer’s Research & Therapy, Vol 14, Iss 1, Pp 1-14 (2022)
Publisher Information: BMC, 2022.
Publication Year: 2022
Collection: LCC:Neurosciences. Biological psychiatry. Neuropsychiatry
LCC:Neurology. Diseases of the nervous system
Subject Terms: Alzheimer’s disease, Early-onset Alzheimer disease, Familial Alzheimer disease, Whole exome sequencing, Genetic testing, Genetic counseling, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
More Details: 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
Document Type: article
File Description: electronic resource
Language: English
ISSN: 1758-9193
Relation: https://doaj.org/toc/1758-9193
DOI: 10.1186/s13195-022-01018-3
Access URL: https://doaj.org/article/c8e6a06105dd443495870162989bb619
Accession Number: edsdoj.8e6a06105dd443495870162989bb619
Database: Directory of Open Access Journals
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More Details
ISSN:17589193
DOI:10.1186/s13195-022-01018-3
Published in:Alzheimer’s Research & Therapy
Language:English