Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal
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, th...
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| Format: | Article |
| Language: | English |
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Ordem dos Médicos
2017-06-01
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| Series: | Acta Médica Portuguesa |
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| Online Access: | http://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797 |
| _version_ | 1818617096553103360 |
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| author | Tiago Gomes Joana Guimaraes Miguel Leão Em nome do Grupo de Neurogenética do Centro Hospitalar São João |
| author_facet | Tiago Gomes Joana Guimaraes Miguel Leão Em nome do Grupo de Neurogenética do Centro Hospitalar São João |
| author_sort | Tiago Gomes |
| collection | DOAJ |
| 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ataxias in clinical practice, based on international consensus documents (currently containing potentially outdated information) and published scientific evidence on this topic.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. |
| first_indexed | 2024-12-16T17:00:16Z |
| format | Article |
| id | doaj.art-4c349eaaf07d47d485c8e4086cf1e95f |
| institution | Directory Open Access Journal |
| issn | 0870-399X 1646-0758 |
| language | English |
| last_indexed | 2024-12-16T17:00:16Z |
| publishDate | 2017-06-01 |
| publisher | Ordem dos Médicos |
| record_format | Article |
| series | Acta Médica Portuguesa |
| spelling | doaj.art-4c349eaaf07d47d485c8e4086cf1e95f2022-12-21T22:23:45ZengOrdem dos MédicosActa Médica Portuguesa0870-399X1646-07582017-06-0130650251210.20344/amp.87974575Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, PortugalTiago Gomes0Joana Guimaraes1Miguel Leão2Em nome do Grupo de Neurogenética do Centro Hospitalar São JoãoServiço de Neurologia. Centro Hospitalar São João. Porto. Portugal. Departamento de Bioquímica. Faculdade de Medicina. Universidade do Porto. Porto. Portugal.Serviço de Neurologia. Centro Hospitalar São João. Porto. Portugal. Departamento de Neurociências Clínicas e Saúde Mental. Faculdade de Medicina. Universidade do Porto. Porto. Portugal.Unidade de Neuropediatria. Serviço de Pediatria. Centro Hospitalar São João. Porto. Portugal. Serviço de Genética. Faculdade de Medicina. Universidade do Porto. Porto. Portugal.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.http://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797Ataxia/genéticaAtaxia Espinocerebelosa/genéticaDegeneração Espinocerebelosa/genéticaPortugal |
| spellingShingle | Tiago Gomes Joana Guimaraes Miguel Leão Em nome do Grupo de Neurogenética do Centro Hospitalar São João Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal Acta Médica Portuguesa Ataxia/genética Ataxia Espinocerebelosa/genética Degeneração Espinocerebelosa/genética Portugal |
| title | 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_short | 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 sao joao portugal |
| topic | Ataxia/genética Ataxia Espinocerebelosa/genética Degeneração Espinocerebelosa/genética Portugal |
| url | http://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797 |
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