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Genetic architecture of common non-Alzheimer’s disease dementias

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 tho...

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Autores principales: Guerreiro, Rita, Gibbons, Elizabeth, Tábuas-Pereira, Miguel, Kun-Rodrigues, Celia, Santo, Gustavo C., Bras, Jose
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8207829/
https://www.ncbi.nlm.nih.gov/pubmed/32439597
http://dx.doi.org/10.1016/j.nbd.2020.104946
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author Guerreiro, Rita
Gibbons, Elizabeth
Tábuas-Pereira, Miguel
Kun-Rodrigues, Celia
Santo, Gustavo C.
Bras, Jose
author_facet Guerreiro, Rita
Gibbons, Elizabeth
Tábuas-Pereira, Miguel
Kun-Rodrigues, Celia
Santo, Gustavo C.
Bras, Jose
author_sort Guerreiro, Rita
collection PubMed
description 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.
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spelling pubmed-82078292021-06-16 Genetic architecture of common non-Alzheimer’s disease dementias Guerreiro, Rita Gibbons, Elizabeth Tábuas-Pereira, Miguel Kun-Rodrigues, Celia Santo, Gustavo C. Bras, Jose Neurobiol Dis Article 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. 2020-05-19 2020-08 /pmc/articles/PMC8207829/ /pubmed/32439597 http://dx.doi.org/10.1016/j.nbd.2020.104946 Text en https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) ).
spellingShingle Article
Guerreiro, Rita
Gibbons, Elizabeth
Tábuas-Pereira, Miguel
Kun-Rodrigues, Celia
Santo, Gustavo C.
Bras, Jose
Genetic architecture of common non-Alzheimer’s disease dementias
title Genetic architecture of common non-Alzheimer’s disease dementias
title_full Genetic architecture of common non-Alzheimer’s disease dementias
title_fullStr Genetic architecture of common non-Alzheimer’s disease dementias
title_full_unstemmed Genetic architecture of common non-Alzheimer’s disease dementias
title_short Genetic architecture of common non-Alzheimer’s disease dementias
title_sort genetic architecture of common non-alzheimer’s disease dementias
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8207829/
https://www.ncbi.nlm.nih.gov/pubmed/32439597
http://dx.doi.org/10.1016/j.nbd.2020.104946
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