Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797 |
Resumo: | In recent decades, a long and increasing list of monogenic neurodegenerative ataxias has been identified, allowing for better characterization of the pathophysiology, phenotype and prognosis of this heterogeneous group of disorders, while also revealing potential new therapeutic targets. However, the heterogeneity and complexity of the genotype-phenotype relationships and the high costs of molecular genetics often make it difficult for clinicians to decide on a molecular investigation based on an unbiased rational plan. Clinical history is essential to guide the diagnostic workup, but often the phenotype does not hold enough specificity to allow for predicting the genotype. The Group of Neurogenetics of the Centro Hospitalar São João, a multidisciplinary team of neurologists and geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic aetiology of neurodegenerative ataxias in clinical practice, based on international consensus documents (currently containing potentially outdated information) and published scientific evidence on this topic. At the time these recommendations were written, there were around 10 well described autosomal recessive loci and more than 27 autosomal dominant loci for neurodegenerative ataxias. This document covers, in a pragmatic way, the rational process used for the genetic diagnosis of neurodegenerative ataxias, with specific recommendations for the various groups of these heterogeneous diseases, per the Portuguese reality. |
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Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, PortugalInvestigação de Etiologia Genética nas Ataxias Neurodegenerativas: Recomendações do Grupo de Neurogenética do Centro Hospitalar São João, PortugalAtaxia/geneticsPortugalSpinocerebellar Ataxias/geneticsSpinocerebellar Degenerations/geneticsAtaxia/genéticaAtaxia Espinocerebelosa/genéticaDegeneração Espinocerebelosa/genéticaPortugalIn recent decades, a long and increasing list of monogenic neurodegenerative ataxias has been identified, allowing for better characterization of the pathophysiology, phenotype and prognosis of this heterogeneous group of disorders, while also revealing potential new therapeutic targets. However, the heterogeneity and complexity of the genotype-phenotype relationships and the high costs of molecular genetics often make it difficult for clinicians to decide on a molecular investigation based on an unbiased rational plan. Clinical history is essential to guide the diagnostic workup, but often the phenotype does not hold enough specificity to allow for predicting the genotype. The Group of Neurogenetics of the Centro Hospitalar São João, a multidisciplinary team of neurologists and geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic aetiology of neurodegenerative ataxias in clinical practice, based on international consensus documents (currently containing potentially outdated information) and published scientific evidence on this topic. At the time these recommendations were written, there were around 10 well described autosomal recessive loci and more than 27 autosomal dominant loci for neurodegenerative ataxias. This document covers, in a pragmatic way, the rational process used for the genetic diagnosis of neurodegenerative ataxias, with specific recommendations for the various groups of these heterogeneous diseases, per the Portuguese reality.Nas últimas décadas foi identificada uma lista crescente de ataxias neurodegenerativas de causa monogénica, permitindo uma melhor caracterização da patofisiologia, fenótipo e prognóstico deste grupo heterogéneos de patologias e revelando potenciais novos alvos terapêuticos. No entanto, a heterogeneidade e complexidade da relação genótipo-fenótipo e os elevados custos inerentes às técnicas de genética molecular, dificultam o plano racional clínico na orientação da investigação destas doenças. A história clínica é essencial à orientação diagnóstica, mas frequentemente o fenótipo não detém especificidade suficiente para permitir prever o genótipo. O Grupo de Neurogenética do Centro Hospitalar São João, grupo multidisciplinar de neurologistas e geneticistas com interesse especial na área das doenças neurogenéticas, delineou recomendações de consenso para a investigação da etiologia genética das ataxias neurodegenerativas, tendo por base documentos de consenso internacionais (contendo atualmente informação potencialmente desatualizada) e a evidência científica publicada sobre este tópico. Atualmente estão bem descritos aproximadamente 10 loci autossómicos recessivos e mais de 27 loci autossómicos dominantes para as ataxias neurodegenerativas. Este documento aborda de forma pragmática o processo utilizado para o diagnóstico genético das ataxias neurodegenerativas, com recomendações específicas para os diversos grupos de ataxias hereditárias e adaptado à realidade Portuguesa.Ordem dos Médicos2017-06-30info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfapplication/pdfapplication/mswordapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797oai:ojs.www.actamedicaportuguesa.com:article/8797Acta Médica Portuguesa; Vol. 30 No. 6 (2017): June; 502-512Acta Médica Portuguesa; Vol. 30 N.º 6 (2017): Junho; 502-5121646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797/5083https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797/9221https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797/9305https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797/9418Direitos de Autor (c) 2017 Acta Médica Portuguesainfo:eu-repo/semantics/openAccessGomes, TiagoGuimaraes, JoanaLeão, MiguelGrupo de Neurogenética do Centro Hospitalar São João, Em nome do2022-12-20T11:05:37Zoai:ojs.www.actamedicaportuguesa.com:article/8797Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:19:38.715273Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal Investigação de Etiologia Genética nas Ataxias Neurodegenerativas: Recomendações do Grupo de Neurogenética do Centro Hospitalar São João, Portugal |
title |
Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal |
spellingShingle |
Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal Gomes, Tiago Ataxia/genetics Portugal Spinocerebellar Ataxias/genetics Spinocerebellar Degenerations/genetics Ataxia/genética Ataxia Espinocerebelosa/genética Degeneração Espinocerebelosa/genética Portugal |
title_short |
Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal |
title_full |
Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal |
title_fullStr |
Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal |
title_full_unstemmed |
Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal |
title_sort |
Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal |
author |
Gomes, Tiago |
author_facet |
Gomes, Tiago Guimaraes, Joana Leão, Miguel Grupo de Neurogenética do Centro Hospitalar São João, Em nome do |
author_role |
author |
author2 |
Guimaraes, Joana Leão, Miguel Grupo de Neurogenética do Centro Hospitalar São João, Em nome do |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Gomes, Tiago Guimaraes, Joana Leão, Miguel Grupo de Neurogenética do Centro Hospitalar São João, Em nome do |
dc.subject.por.fl_str_mv |
Ataxia/genetics Portugal Spinocerebellar Ataxias/genetics Spinocerebellar Degenerations/genetics Ataxia/genética Ataxia Espinocerebelosa/genética Degeneração Espinocerebelosa/genética Portugal |
topic |
Ataxia/genetics Portugal Spinocerebellar Ataxias/genetics Spinocerebellar Degenerations/genetics Ataxia/genética Ataxia Espinocerebelosa/genética Degeneração Espinocerebelosa/genética Portugal |
description |
In recent decades, a long and increasing list of monogenic neurodegenerative ataxias has been identified, allowing for better characterization of the pathophysiology, phenotype and prognosis of this heterogeneous group of disorders, while also revealing potential new therapeutic targets. However, the heterogeneity and complexity of the genotype-phenotype relationships and the high costs of molecular genetics often make it difficult for clinicians to decide on a molecular investigation based on an unbiased rational plan. Clinical history is essential to guide the diagnostic workup, but often the phenotype does not hold enough specificity to allow for predicting the genotype. The Group of Neurogenetics of the Centro Hospitalar São João, a multidisciplinary team of neurologists and geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic aetiology of neurodegenerative ataxias in clinical practice, based on international consensus documents (currently containing potentially outdated information) and published scientific evidence on this topic. At the time these recommendations were written, there were around 10 well described autosomal recessive loci and more than 27 autosomal dominant loci for neurodegenerative ataxias. This document covers, in a pragmatic way, the rational process used for the genetic diagnosis of neurodegenerative ataxias, with specific recommendations for the various groups of these heterogeneous diseases, per the Portuguese reality. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-06-30 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797 oai:ojs.www.actamedicaportuguesa.com:article/8797 |
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797 |
identifier_str_mv |
oai:ojs.www.actamedicaportuguesa.com:article/8797 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797/5083 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797/9221 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797/9305 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797/9418 |
dc.rights.driver.fl_str_mv |
Direitos de Autor (c) 2017 Acta Médica Portuguesa info:eu-repo/semantics/openAccess |
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Direitos de Autor (c) 2017 Acta Médica Portuguesa |
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openAccess |
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application/pdf application/pdf application/msword application/pdf |
dc.publisher.none.fl_str_mv |
Ordem dos Médicos |
publisher.none.fl_str_mv |
Ordem dos Médicos |
dc.source.none.fl_str_mv |
Acta Médica Portuguesa; Vol. 30 No. 6 (2017): June; 502-512 Acta Médica Portuguesa; Vol. 30 N.º 6 (2017): Junho; 502-512 1646-0758 0870-399X reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
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Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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RCAAP |
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RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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