EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias
Identifieur interne : 000B05 ( Main/Exploration ); précédent : 000B04; suivant : 000B06EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias
Auteurs : H. F. Harbo [Norvège] ; J. Finsterer [Autriche] ; J. Baets [Belgique] ; C. Van Broeckhoven [Belgique] ; S. Di Donato [Italie] ; B. Fontaine [France] ; P. De Jonghe [Belgique] ; A. Lossos [Israël] ; T. Lynch [Irlande (pays)] ; C. Mariotti [Italie] ; L. Schöls [Allemagne] ; A. Spinazzola [Italie] ; Z. Szolnoki [Hongrie] ; S. J. Tabrizi [Royaume-Uni] ; C. Tallaksen [Norvège] ; M. Zeviani [Italie] ; J. Burgunder [Suisse] ; T. Gasser [Allemagne]Source :
- European Journal of Neurology [ 1351-5101 ] ; 2009-07.
English descriptors
- KwdEn :
Abstract
Background and purpose: These EFNS guidelines on the molecular diagnosis of neurogenetic disorders are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics in diagnosing neurogenetic disorders. Since the publication of the first two EFNS‐guideline papers on the molecular diagnosis of neurological diseases in 2001, rapid progress has been made in this field, necessitating an updated series of guidelines. Methods: Literature searches were performed before expert members of the task force wrote proposals, which were discussed in detail until final consensus had been reached among all task force members. Results and conclusion: This paper provides updated guidelines for molecular diagnosis of Huntington’s disease, Parkinson’s disease and dystonias as well as a general introduction to the topic. Possibilities and limitations of molecular genetic diagnosis of these disorders are evaluated and recommendations are provided.
Url:
DOI: 10.1111/j.1468-1331.2009.02646.x
Affiliations:
- Allemagne, Autriche, Belgique, France, Hongrie, Irlande (pays), Israël, Italie, Norvège, Royaume-Uni, Suisse
- Angleterre, Bade-Wurtemberg, Canton de Berne, District de Tübingen, Grand Londres, Lombardie, Province d'Anvers, Vienne (Autriche)
- Anvers, Berne, Londres, Milan, Paris, Tübingen, Vienne (Autriche)
- Université d'Anvers, Université de Berne
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Lynch</name><affiliation wicri:level="1"><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>The Dublin Neurological Institute, Mater Misericordiae University, Beaumont & Mater Private Hospitals, Dublin</wicri:regionArea><wicri:noRegion>Dublin</wicri:noRegion></affiliation></author><author><name sortKey="Mariotti, C" sort="Mariotti, C" uniqKey="Mariotti C" first="C." last="Mariotti">C. Mariotti</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Unit of Biochemistry and Genetic of Neurogenetic and Metabolic Diseases, IRCCS Foundation, Neurological Institute Carlo Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Schols, L" sort="Schols, L" uniqKey="Schols L" first="L." last="Schöls">L. Schöls</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Clinical Neurogenetics, Center of Neurology and Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author><author><name sortKey="Spinazzola, A" sort="Spinazzola, A" uniqKey="Spinazzola A" first="A." last="Spinazzola">A. 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Tabrizi</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Neurodegenerative Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Tallaksen, C" sort="Tallaksen, C" uniqKey="Tallaksen C" first="C." last="Tallaksen">C. Tallaksen</name><affiliation wicri:level="1"><country xml:lang="fr">Norvège</country><wicri:regionArea>Department of Neurology, Ullevål, Oslo University Hospital, and Faculty Division Ullevål, University of Oslo, Oslo</wicri:regionArea><wicri:noRegion>Oslo</wicri:noRegion></affiliation></author><author><name sortKey="Zeviani, M" sort="Zeviani, M" uniqKey="Zeviani M" first="M." last="Zeviani">M. Zeviani</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Division of Molecular Neurogenetics, IRCCS Foundation Neurological Institute Carlo Besta, Milan</wicri:regionArea><placeName><settlement type="city">Milan</settlement><region nuts="2">Lombardie</region></placeName></affiliation></author><author><name sortKey="Burgunder, J" sort="Burgunder, J" uniqKey="Burgunder J" first="J." last="Burgunder">J. Burgunder</name><affiliation wicri:level="4"><country xml:lang="fr">Suisse</country><wicri:regionArea>Department of Neurology, University of Bern, Bern</wicri:regionArea><placeName><settlement type="city">Berne</settlement><region type="région" nuts="3">Canton de Berne</region></placeName><orgName type="university">Université de Berne</orgName></affiliation></author><author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T." last="Gasser">T. Gasser</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurodegenerative Diseases, Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen</wicri:regionArea><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Tübingen</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">European Journal of Neurology</title><idno type="ISSN">1351-5101</idno><idno type="eISSN">1468-1331</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2009-07">2009-07</date><biblScope unit="volume">16</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="777">777</biblScope><biblScope unit="page" to="785">785</biblScope></imprint><idno type="ISSN">1351-5101</idno></series><idno type="istex">C1F73A8F0E327250605A71574ACEB7D0F74A3537</idno><idno type="DOI">10.1111/j.1468-1331.2009.02646.x</idno><idno type="ArticleID">ENE2646</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1351-5101</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>EFNS task force</term><term>Huntington’s disease</term><term>Parkinson disease</term><term>dystonia</term><term>molecular diagnosis</term><term>neurogenetic</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Background and purpose: These EFNS guidelines on the molecular diagnosis of neurogenetic disorders are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics in diagnosing neurogenetic disorders. Since the publication of the first two EFNS‐guideline papers on the molecular diagnosis of neurological diseases in 2001, rapid progress has been made in this field, necessitating an updated series of guidelines. Methods: Literature searches were performed before expert members of the task force wrote proposals, which were discussed in detail until final consensus had been reached among all task force members. Results and conclusion: This paper provides updated guidelines for molecular diagnosis of Huntington’s disease, Parkinson’s disease and dystonias as well as a general introduction to the topic. Possibilities and limitations of molecular genetic diagnosis of these disorders are evaluated and recommendations are provided.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Autriche</li><li>Belgique</li><li>France</li><li>Hongrie</li><li>Irlande (pays)</li><li>Israël</li><li>Italie</li><li>Norvège</li><li>Royaume-Uni</li><li>Suisse</li></country><region><li>Angleterre</li><li>Bade-Wurtemberg</li><li>Canton de Berne</li><li>District de Tübingen</li><li>Grand Londres</li><li>Lombardie</li><li>Province d'Anvers</li><li>Vienne (Autriche)</li></region><settlement><li>Anvers</li><li>Berne</li><li>Londres</li><li>Milan</li><li>Paris</li><li>Tübingen</li><li>Vienne (Autriche)</li></settlement><orgName><li>Université d'Anvers</li><li>Université de Berne</li></orgName></list><tree><country name="Norvège"><noRegion><name sortKey="Harbo, H F" sort="Harbo, H F" uniqKey="Harbo H" first="H. F." last="Harbo">H. F. 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De Jonghe</name><name sortKey="Van Broeckhoven, C" sort="Van Broeckhoven, C" uniqKey="Van Broeckhoven C" first="C." last="Van Broeckhoven">C. Van Broeckhoven</name><name sortKey="Van Broeckhoven, C" sort="Van Broeckhoven, C" uniqKey="Van Broeckhoven C" first="C." last="Van Broeckhoven">C. Van Broeckhoven</name></country><country name="Italie"><region name="Lombardie"><name sortKey="Di Donato, S" sort="Di Donato, S" uniqKey="Di Donato S" first="S." last="Di Donato">S. Di Donato</name></region><name sortKey="Mariotti, C" sort="Mariotti, C" uniqKey="Mariotti C" first="C." last="Mariotti">C. Mariotti</name><name sortKey="Spinazzola, A" sort="Spinazzola, A" uniqKey="Spinazzola A" first="A." last="Spinazzola">A. Spinazzola</name><name sortKey="Zeviani, M" sort="Zeviani, M" uniqKey="Zeviani M" first="M." last="Zeviani">M. Zeviani</name></country><country name="France"><noRegion><name sortKey="Fontaine, B" sort="Fontaine, B" uniqKey="Fontaine B" first="B." last="Fontaine">B. 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