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DOI: 10.1590/0004-282X-ANP-2022-S103
Genetic investigation of dementias in clinical practice
Investigação genética das demências na prática clínica
Abstract
Background: The field of neurodegenerative dementia genetics has advanced significantly over the past two decades, but there are still more to be discovered (such as the gene mutation in some familial forms of dementia). Objective: To provide a brief review of the most recent discoveries regarding monogenic dementia, and covering the most frequent genetic diseases that can cause dementia (neurodegenerative or not). Methods: A review of the literature will be carried out. Results: Neurodegenerative dementias, vascular dementias and leukoencephalopathies caused by single pathogenic variants are presented. Conclusion: The spectrum of clinical presentations for most of the genes discussed is wide, and hence genetic testing in clinic should try to cover as many genes as possible.
RESUMO
Antecedentes: O campo da genética das demências neurodegenerativas avançou significativamente nas últimas duas décadas, mas ainda há mais a ser descoberto (como a mutação genética em algumas formas familiares de demência). Objetivo: Fornecer uma breve revisão das descobertas mais recentes sobre demência monogênica, e abrangendo as doenças genéticas mais frequentes que podem causar demência (neurodegenerativa ou não). Métodos: Será realizada uma revisão da literatura. Resultados: São apresentadas demências neurodegenerativas, demências vasculares e leucoencefalopatias causadas por variantes patogênicas únicas. Conclusão: O espectro de apresentações clínicas para a maioria dos genes discutidos é amplo e, portanto, os testes genéticos na clínica devem tentar cobrir o maior número possível de genes.
Keyword:
Alzheimer Disease - Frontotemporal Dementia - Genetic Testing - Dementia, Vascular - LeukoencephalopathiesPalavras-chave:
Doença de Alzheimer - Demência Frontotemporal - Testes Genéticos - Demência Vascular - LeucoencefalopatiasPublication History
Received: 13 March 2022
Accepted: 29 April 2022
Article published online:
06 February 2023
© 2022. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
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