Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal

Detalhes bibliográficos
Autor(a) principal: Gomes, Tiago
Data de Publicação: 2017
Outros Autores: Guimaraes, Joana, Leão, Miguel, Grupo de Neurogenética do Centro Hospitalar São João, Em nome do
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ataxias in clinical practice, based on international consensus documents (currently containing potentially outdated information) and published scientific evidence on this topic.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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spelling 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
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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
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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
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