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Genetic architecture of common non-Alzheimer's disease dementias.

TitleGenetic architecture of common non-Alzheimer's disease dementias.
Publication TypeJournal Article
Year of Publication2020
AuthorsGuerreiro R, Gibbons E, Tábuas-Pereira M, Kun-Rodrigues C, Santo GC, Bras J
JournalNeurobiol Dis
Date Published2020 08
KeywordsFrontotemporal Dementia, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Lewy Body Disease

Frontotemporal dementia (FTD), dementia with Lewy bodies (DLB) and vascular dementia (VaD) are the most common forms of dementia after Alzheimer's disease (AD). The heterogeneity of these disorders and/or the clinical overlap with other diseases hinder the study of their genetic components. Even though Mendelian dementias are rare, the study of these forms of disease can have a significant impact in the lives of patients and families and have successfully brought to the fore many of the genes currently known to be involved in FTD and VaD, starting to give us a glimpse of the molecular mechanisms underlying these phenotypes. More recently, genome-wide association studies have also pointed to disease risk-associated loci. This has been particularly important for DLB where familial forms of disease are very rarely described. In this review we systematically describe the Mendelian and risk genes involved in these non-AD dementias in an effort to contribute to a better understanding of their genetic architecture, find differences and commonalities between different dementia phenotypes, and uncover areas that would benefit from more intense research endeavors.

Pubmed Link
Alternate JournalNeurobiol Dis
PubMed ID32439597
PubMed Central IDPMC8207829
Grant ListR01 AG067426 / AG / NIA NIH HHS / United States

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