Genetic investigation of dementias in clinical practice

Genetic investigation of dementias in clinical practice

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.

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Main Author: Takada,Leonel Tadao
Format: Digital revista
Language:English
Published: Academia Brasileira de Neurologia - ABNEURO 2022
Online Access:http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2022000700036
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spelling oai:scielo:S0004-282X20220007000362022-08-16Genetic investigation of dementias in clinical practiceTakada,Leonel Tadao Alzheimer Disease Frontotemporal Dementia Genetic Testing Dementia, Vascular Leukoencephalopathies 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.info:eu-repo/semantics/openAccessAcademia Brasileira de Neurologia - ABNEUROArquivos de Neuro-Psiquiatria v.80 n.5 suppl.1 20222022-05-01info:eu-repo/semantics/articletext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2022000700036en10.1590/0004-282x-anp-2022-s103
institution SCIELO
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country Brasil
countrycode BR
component Revista
access En linea
databasecode rev-scielo-br
tag revista
region America del Sur
libraryname SciELO
language English
format Digital
author Takada,Leonel Tadao
spellingShingle Takada,Leonel Tadao
Genetic investigation of dementias in clinical practice
author_facet Takada,Leonel Tadao
author_sort Takada,Leonel Tadao
title Genetic investigation of dementias in clinical practice
title_short Genetic investigation of dementias in clinical practice
title_full Genetic investigation of dementias in clinical practice
title_fullStr Genetic investigation of dementias in clinical practice
title_full_unstemmed Genetic investigation of dementias in clinical practice
title_sort genetic investigation of dementias in clinical practice
description 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.
publisher Academia Brasileira de Neurologia - ABNEURO
publishDate 2022
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2022000700036
work_keys_str_mv AT takadaleoneltadao geneticinvestigationofdementiasinclinicalpractice
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