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...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Tiago Gomes [verfasserIn] Joana Guimaraes [verfasserIn] Miguel Leão [verfasserIn] Em nome do Grupo de Neurogenética do Centro Hospitalar São João [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch ; Portugiesisch

Erschienen:	2017

Schlagwörter:	Ataxia/genética Ataxia Espinocerebelosa/genética Degeneração Espinocerebelosa/genética Portugal

Übergeordnetes Werk:	In: Acta Médica Portuguesa - Ordem dos Médicos, 2008, 30(2017), 6, Seite 502-512
Übergeordnetes Werk:	volume:30 ; year:2017 ; number:6 ; pages:502-512

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.20344/amp.8797

Katalog-ID:	DOAJ056284780

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allfields	10.20344/amp.8797 doi (DE-627)DOAJ056284780 (DE-599)DOAJ4c349eaaf07d47d485c8e4086cf1e95f DE-627 ger DE-627 rakwb eng por R5-920 Tiago Gomes verfasserin aut Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Ataxia/genética Ataxia Espinocerebelosa/genética Degeneração Espinocerebelosa/genética Portugal Medicine R Medicine (General) Joana Guimaraes verfasserin aut Miguel Leão verfasserin aut Em nome do Grupo de Neurogenética do Centro Hospitalar São João verfasserin aut In Acta Médica Portuguesa Ordem dos Médicos, 2008 30(2017), 6, Seite 502-512 (DE-627)37812935X (DE-600)2133563-1 16460758 nnns volume:30 year:2017 number:6 pages:502-512 https://doi.org/10.20344/amp.8797 kostenfrei https://doaj.org/article/4c349eaaf07d47d485c8e4086cf1e95f kostenfrei http://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797 kostenfrei https://doaj.org/toc/0870-399X Journal toc kostenfrei https://doaj.org/toc/1646-0758 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 30 2017 6 502-512
spelling	10.20344/amp.8797 doi (DE-627)DOAJ056284780 (DE-599)DOAJ4c349eaaf07d47d485c8e4086cf1e95f DE-627 ger DE-627 rakwb eng por R5-920 Tiago Gomes verfasserin aut Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Ataxia/genética Ataxia Espinocerebelosa/genética Degeneração Espinocerebelosa/genética Portugal Medicine R Medicine (General) Joana Guimaraes verfasserin aut Miguel Leão verfasserin aut Em nome do Grupo de Neurogenética do Centro Hospitalar São João verfasserin aut In Acta Médica Portuguesa Ordem dos Médicos, 2008 30(2017), 6, Seite 502-512 (DE-627)37812935X (DE-600)2133563-1 16460758 nnns volume:30 year:2017 number:6 pages:502-512 https://doi.org/10.20344/amp.8797 kostenfrei https://doaj.org/article/4c349eaaf07d47d485c8e4086cf1e95f kostenfrei http://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797 kostenfrei https://doaj.org/toc/0870-399X Journal toc kostenfrei https://doaj.org/toc/1646-0758 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 30 2017 6 502-512
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allfieldsGer	10.20344/amp.8797 doi (DE-627)DOAJ056284780 (DE-599)DOAJ4c349eaaf07d47d485c8e4086cf1e95f DE-627 ger DE-627 rakwb eng por R5-920 Tiago Gomes verfasserin aut Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Ataxia/genética Ataxia Espinocerebelosa/genética Degeneração Espinocerebelosa/genética Portugal Medicine R Medicine (General) Joana Guimaraes verfasserin aut Miguel Leão verfasserin aut Em nome do Grupo de Neurogenética do Centro Hospitalar São João verfasserin aut In Acta Médica Portuguesa Ordem dos Médicos, 2008 30(2017), 6, Seite 502-512 (DE-627)37812935X (DE-600)2133563-1 16460758 nnns volume:30 year:2017 number:6 pages:502-512 https://doi.org/10.20344/amp.8797 kostenfrei https://doaj.org/article/4c349eaaf07d47d485c8e4086cf1e95f kostenfrei http://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797 kostenfrei https://doaj.org/toc/0870-399X Journal toc kostenfrei https://doaj.org/toc/1646-0758 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 30 2017 6 502-512
allfieldsSound	10.20344/amp.8797 doi (DE-627)DOAJ056284780 (DE-599)DOAJ4c349eaaf07d47d485c8e4086cf1e95f DE-627 ger DE-627 rakwb eng por R5-920 Tiago Gomes verfasserin aut Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal 2017 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Ataxia/genética Ataxia Espinocerebelosa/genética Degeneração Espinocerebelosa/genética Portugal Medicine R Medicine (General) Joana Guimaraes verfasserin aut Miguel Leão verfasserin aut Em nome do Grupo de Neurogenética do Centro Hospitalar São João verfasserin aut In Acta Médica Portuguesa Ordem dos Médicos, 2008 30(2017), 6, Seite 502-512 (DE-627)37812935X (DE-600)2133563-1 16460758 nnns volume:30 year:2017 number:6 pages:502-512 https://doi.org/10.20344/amp.8797 kostenfrei https://doaj.org/article/4c349eaaf07d47d485c8e4086cf1e95f kostenfrei http://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797 kostenfrei https://doaj.org/toc/0870-399X Journal toc kostenfrei https://doaj.org/toc/1646-0758 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 30 2017 6 502-512
language	English Portuguese
source	In Acta Médica Portuguesa 30(2017), 6, Seite 502-512 volume:30 year:2017 number:6 pages:502-512
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author	Tiago Gomes
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topic_title	R5-920 Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal Ataxia/genética Ataxia Espinocerebelosa/genética Degeneração Espinocerebelosa/genética Portugal
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title	Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal
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title_full	Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal
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title_sort	investigation of genetic aetiology in neurodegenerative ataxias: recommendations from the group of neurogenetics of centro hospitalar são joão, portugal
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title_auth	Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal
abstract	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.
abstractGer	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.
abstract_unstemmed	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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title_short	Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal
url	https://doi.org/10.20344/amp.8797 https://doaj.org/article/4c349eaaf07d47d485c8e4086cf1e95f http://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/8797 https://doaj.org/toc/0870-399X https://doaj.org/toc/1646-0758
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Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal

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