EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias
Identifieur interne : 001A12 ( Main/Corpus ); précédent : 001A11; suivant : 001A13EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias
Auteurs : H. F. Harbo ; J. Finsterer ; J. Baets ; C. Van Broeckhoven ; S. Di Donato ; B. Fontaine ; P. De Jonghe ; A. Lossos ; T. Lynch ; C. Mariotti ; L. Schöls ; A. Spinazzola ; Z. Szolnoki ; S. J. Tabrizi ; C. Tallaksen ; M. Zeviani ; J. Burgunder ; T. GasserSource :
- European Journal of Neurology [ 1351-5101 ] ; 2009-07.
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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.
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DOI: 10.1111/j.1468-1331.2009.02646.x
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Burgunder</name><affiliation><mods:affiliation>Department of Neurology, University of Bern, Bern, Switzerland</mods:affiliation></affiliation></author><author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T." last="Gasser">T. 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Harbo</name><affiliation><mods:affiliation>Department of Neurology, Ullevål, Oslo University Hospital, and Faculty Division Ullevål, University of Oslo, Oslo, Norway</mods:affiliation></affiliation></author><author><name sortKey="Finsterer, J" sort="Finsterer, J" uniqKey="Finsterer J" first="J." last="Finsterer">J. Finsterer</name><affiliation><mods:affiliation>Department of Neurology, Rudolfstiftung and Danube University, Krems, Vienna, Austria</mods:affiliation></affiliation></author><author><name sortKey="Baets, J" sort="Baets, J" uniqKey="Baets J" first="J." last="Baets">J. Baets</name><affiliation><mods:affiliation>Department of Neurology, University Hospital of Antwerpen, Antwerpen, Belgium</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Molecular Genetics, VIB; and Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerpen, Antwerpen, Belgium</mods:affiliation></affiliation><affiliation><mods:affiliation>Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerp, Antwerpen, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Van Broeckhoven, C" sort="Van Broeckhoven, C" uniqKey="Van Broeckhoven C" first="C." last="Van Broeckhoven">C. Van Broeckhoven</name><affiliation><mods:affiliation>Department of Molecular Genetics, VIB; and Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerpen, Antwerpen, Belgium</mods:affiliation></affiliation><affiliation><mods:affiliation>Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerp, Antwerpen, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Di Donato, S" sort="Di Donato, S" uniqKey="Di Donato S" first="S." last="Di Donato">S. Di Donato</name><affiliation><mods:affiliation>Fondazione‐IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy</mods:affiliation></affiliation></author><author><name sortKey="Fontaine, B" sort="Fontaine, B" uniqKey="Fontaine B" first="B." last="Fontaine">B. Fontaine</name><affiliation><mods:affiliation>Assistance Publique‐Hôpitaux de Paris, Centre de référence des canalopathies musculaires, Groupe Hospitalier Pitié‐Salpêtrière, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="De Jonghe, P" sort="De Jonghe, P" uniqKey="De Jonghe P" first="P." last="De Jonghe">P. De Jonghe</name><affiliation><mods:affiliation>Department of Neurology, University Hospital of Antwerpen, Antwerpen, Belgium</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Molecular Genetics, VIB; and Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerpen, Antwerpen, Belgium</mods:affiliation></affiliation></author><author><name sortKey="Lossos, A" sort="Lossos, A" uniqKey="Lossos A" first="A." last="Lossos">A. Lossos</name><affiliation><mods:affiliation>Department of Neurology, Hadassah University Hospital, Jerusalem, Israel</mods:affiliation></affiliation></author><author><name sortKey="Lynch, T" sort="Lynch, T" uniqKey="Lynch T" first="T." last="Lynch">T. Lynch</name><affiliation><mods:affiliation>The Dublin Neurological Institute, Mater Misericordiae University, Beaumont & Mater Private Hospitals, Dublin, Ireland</mods:affiliation></affiliation></author><author><name sortKey="Mariotti, C" sort="Mariotti, C" uniqKey="Mariotti C" first="C." last="Mariotti">C. Mariotti</name><affiliation><mods:affiliation>Unit of Biochemistry and Genetic of Neurogenetic and Metabolic Diseases, IRCCS Foundation, Neurological Institute Carlo Besta, Milan, Italy</mods:affiliation></affiliation></author><author><name sortKey="Schols, L" sort="Schols, L" uniqKey="Schols L" first="L." last="Schöls">L. Schöls</name><affiliation><mods:affiliation>Clinical Neurogenetics, Center of Neurology and Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</mods:affiliation></affiliation></author><author><name sortKey="Spinazzola, A" sort="Spinazzola, A" uniqKey="Spinazzola A" first="A." last="Spinazzola">A. Spinazzola</name><affiliation><mods:affiliation>Division of Molecular Neurogenetics, IRCCS Foundation Neurological Institute Carlo Besta, Milan, Italy</mods:affiliation></affiliation></author><author><name sortKey="Szolnoki, Z" sort="Szolnoki, Z" uniqKey="Szolnoki Z" first="Z." last="Szolnoki">Z. Szolnoki</name><affiliation><mods:affiliation>Department of Neurology and Cerebrovascular Diseases, Pandy County Hospital, Gyula, Hungary</mods:affiliation></affiliation></author><author><name sortKey="Tabrizi, S J" sort="Tabrizi, S J" uniqKey="Tabrizi S" first="S. J." last="Tabrizi">S. J. Tabrizi</name><affiliation><mods:affiliation>Department of Neurodegenerative Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK</mods:affiliation></affiliation></author><author><name sortKey="Tallaksen, C" sort="Tallaksen, C" uniqKey="Tallaksen C" first="C." last="Tallaksen">C. Tallaksen</name><affiliation><mods:affiliation>Department of Neurology, Ullevål, Oslo University Hospital, and Faculty Division Ullevål, University of Oslo, Oslo, Norway</mods:affiliation></affiliation></author><author><name sortKey="Zeviani, M" sort="Zeviani, M" uniqKey="Zeviani M" first="M." last="Zeviani">M. Zeviani</name><affiliation><mods:affiliation>Division of Molecular Neurogenetics, IRCCS Foundation Neurological Institute Carlo Besta, Milan, Italy</mods:affiliation></affiliation></author><author><name sortKey="Burgunder, J" sort="Burgunder, J" uniqKey="Burgunder J" first="J." last="Burgunder">J. Burgunder</name><affiliation><mods:affiliation>Department of Neurology, University of Bern, Bern, Switzerland</mods:affiliation></affiliation></author><author><name sortKey="Gasser, T" sort="Gasser, T" uniqKey="Gasser T" first="T." last="Gasser">T. Gasser</name><affiliation><mods:affiliation>Department of Neurodegenerative Diseases, Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</mods:affiliation></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><istex><corpusName>wiley</corpusName><author><json:item><name>H. F. Harbo</name><affiliations><json:string>Department of Neurology, Ullevål, Oslo University Hospital, and Faculty Division Ullevål, University of Oslo, Oslo, Norway</json:string></affiliations></json:item><json:item><name>J. Finsterer</name><affiliations><json:string>Department of Neurology, Rudolfstiftung and Danube University, Krems, Vienna, Austria</json:string></affiliations></json:item><json:item><name>J. Baets</name><affiliations><json:string>Department of Neurology, University Hospital of Antwerpen, Antwerpen, Belgium</json:string><json:string>Department of Molecular Genetics, VIB; and Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerpen, Antwerpen, Belgium</json:string><json:string>Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerp, Antwerpen, Belgium</json:string></affiliations></json:item><json:item><name>C. Van Broeckhoven</name><affiliations><json:string>Department of Molecular Genetics, VIB; and Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerpen, Antwerpen, Belgium</json:string><json:string>Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerp, Antwerpen, Belgium</json:string></affiliations></json:item><json:item><name>S. Di Donato</name><affiliations><json:string>Fondazione‐IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy</json:string></affiliations></json:item><json:item><name>B. Fontaine</name><affiliations><json:string>Assistance Publique‐Hôpitaux de Paris, Centre de référence des canalopathies musculaires, Groupe Hospitalier Pitié‐Salpêtrière, Paris, France</json:string></affiliations></json:item><json:item><name>P. De Jonghe</name><affiliations><json:string>Department of Neurology, University Hospital of Antwerpen, Antwerpen, Belgium</json:string><json:string>Department of Molecular Genetics, VIB; and Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerpen, Antwerpen, Belgium</json:string></affiliations></json:item><json:item><name>A. Lossos</name><affiliations><json:string>Department of Neurology, Hadassah University Hospital, Jerusalem, Israel</json:string></affiliations></json:item><json:item><name>T. Lynch</name><affiliations><json:string>The Dublin Neurological Institute, Mater Misericordiae University, Beaumont & Mater Private Hospitals, Dublin, Ireland</json:string></affiliations></json:item><json:item><name>C. Mariotti</name><affiliations><json:string>Unit of Biochemistry and Genetic of Neurogenetic and Metabolic Diseases, IRCCS Foundation, Neurological Institute Carlo Besta, Milan, Italy</json:string></affiliations></json:item><json:item><name>L. Schöls</name><affiliations><json:string>Clinical Neurogenetics, Center of Neurology and Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</json:string></affiliations></json:item><json:item><name>A. Spinazzola</name><affiliations><json:string>Division of Molecular Neurogenetics, IRCCS Foundation Neurological Institute Carlo Besta, Milan, Italy</json:string></affiliations></json:item><json:item><name>Z. Szolnoki</name><affiliations><json:string>Department of Neurology and Cerebrovascular Diseases, Pandy County Hospital, Gyula, Hungary</json:string></affiliations></json:item><json:item><name>S. J. Tabrizi</name><affiliations><json:string>Department of Neurodegenerative Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK</json:string></affiliations></json:item><json:item><name>C. Tallaksen</name><affiliations><json:string>Department of Neurology, Ullevål, Oslo University Hospital, and Faculty Division Ullevål, University of Oslo, Oslo, Norway</json:string></affiliations></json:item><json:item><name>M. Zeviani</name><affiliations><json:string>Division of Molecular Neurogenetics, IRCCS Foundation Neurological Institute Carlo Besta, Milan, Italy</json:string></affiliations></json:item><json:item><name>J.‐M. Burgunder</name><affiliations><json:string>Department of Neurology, University of Bern, Bern, Switzerland</json:string></affiliations></json:item><json:item><name>T. Gasser</name><affiliations><json:string>Department of Neurodegenerative Diseases, Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>dystonia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>EFNS task force</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Huntington’s disease</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>molecular diagnosis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>neurogenetic</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Parkinson disease</value></json:item></subject><articleId><json:string>ENE2646</json:string></articleId><language><json:string>eng</json:string></language><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. 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F.</forename><surname>Harbo</surname></persName><affiliation>Department of Neurology, Ullevål, Oslo University Hospital, and Faculty Division Ullevål, University of Oslo, Oslo, Norway</affiliation></author><author><persName><forename type="first">J.</forename><surname>Finsterer</surname></persName><affiliation>Department of Neurology, Rudolfstiftung and Danube University, Krems, Vienna, Austria</affiliation></author><author><persName><forename type="first">J.</forename><surname>Baets</surname></persName><affiliation>Department of Neurology, University Hospital of Antwerpen, Antwerpen, Belgium</affiliation><affiliation>Department of Molecular Genetics, VIB; and Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerpen, Antwerpen, Belgium</affiliation><affiliation>Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerp, Antwerpen, Belgium</affiliation></author><author><persName><forename type="first">C.</forename><surname>Van Broeckhoven</surname></persName><affiliation>Department of Molecular Genetics, VIB; and Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerpen, Antwerpen, Belgium</affiliation><affiliation>Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerp, Antwerpen, Belgium</affiliation></author><author><persName><forename type="first">S.</forename><surname>Di Donato</surname></persName><affiliation>Fondazione‐IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy</affiliation></author><author><persName><forename type="first">B.</forename><surname>Fontaine</surname></persName><affiliation>Assistance Publique‐Hôpitaux de Paris, Centre de référence des canalopathies musculaires, Groupe Hospitalier Pitié‐Salpêtrière, Paris, France</affiliation></author><author><persName><forename type="first">P.</forename><surname>De Jonghe</surname></persName><affiliation>Department of Neurology, University Hospital of Antwerpen, Antwerpen, Belgium</affiliation><affiliation>Department of Molecular Genetics, VIB; and Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerpen, Antwerpen, Belgium</affiliation></author><author><persName><forename type="first">A.</forename><surname>Lossos</surname></persName><affiliation>Department of Neurology, Hadassah University Hospital, Jerusalem, Israel</affiliation></author><author><persName><forename type="first">T.</forename><surname>Lynch</surname></persName><affiliation>The Dublin Neurological Institute, Mater Misericordiae University, Beaumont & Mater Private Hospitals, Dublin, Ireland</affiliation></author><author><persName><forename type="first">C.</forename><surname>Mariotti</surname></persName><affiliation>Unit of Biochemistry and Genetic of Neurogenetic and Metabolic Diseases, IRCCS Foundation, Neurological Institute Carlo Besta, Milan, Italy</affiliation></author><author><persName><forename type="first">L.</forename><surname>Schöls</surname></persName><affiliation>Clinical Neurogenetics, Center of Neurology and Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</affiliation></author><author><persName><forename type="first">A.</forename><surname>Spinazzola</surname></persName><affiliation>Division of Molecular Neurogenetics, IRCCS Foundation Neurological Institute Carlo Besta, Milan, Italy</affiliation></author><author><persName><forename type="first">Z.</forename><surname>Szolnoki</surname></persName><affiliation>Department of Neurology and Cerebrovascular Diseases, Pandy County Hospital, Gyula, Hungary</affiliation></author><author><persName><forename type="first">S. J.</forename><surname>Tabrizi</surname></persName><affiliation>Department of Neurodegenerative Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK</affiliation></author><author><persName><forename type="first">C.</forename><surname>Tallaksen</surname></persName><affiliation>Department of Neurology, Ullevål, Oslo University Hospital, and Faculty Division Ullevål, University of Oslo, Oslo, Norway</affiliation></author><author><persName><forename type="first">M.</forename><surname>Zeviani</surname></persName><affiliation>Division of Molecular Neurogenetics, IRCCS Foundation Neurological Institute Carlo Besta, Milan, Italy</affiliation></author><author><persName><forename type="first">J.‐M.</forename><surname>Burgunder</surname></persName><affiliation>Department of Neurology, University of Bern, Bern, Switzerland</affiliation></author><author><persName><forename type="first">T.</forename><surname>Gasser</surname></persName><affiliation>Department of Neurodegenerative Diseases, Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</affiliation></author></analytic><monogr><title level="j">European Journal of Neurology</title><idno type="pISSN">1351-5101</idno><idno type="eISSN">1468-1331</idno><idno type="DOI">10.1111/(ISSN)1468-1331</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="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></monogr><idno type="istex">C1F73A8F0E327250605A71574ACEB7D0F74A3537</idno><idno type="DOI">10.1111/j.1468-1331.2009.02646.x</idno><idno type="ArticleID">ENE2646</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2009</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>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.</p></abstract><textClass xml:lang="en"><keywords scheme="keyword"><list><head>Keywords</head><item><term>dystonia</term></item><item><term>EFNS task force</term></item><item><term>Huntington’s disease</term></item><item><term>molecular diagnosis</term></item><item><term>neurogenetic</term></item><item><term>Parkinson disease</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2009-07">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/C1F73A8F0E327250605A71574ACEB7D0F74A3537/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Publishing Ltd</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1468-1331</doi><issn type="print">1351-5101</issn><issn type="electronic">1468-1331</issn><idGroup><id type="product" value="ENE"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="EUROPEAN JOURNAL OF NEUROLOGY">European Journal of Neurology</title></titleGroup></publicationMeta><publicationMeta level="part" position="07007"><doi origin="wiley">10.1111/ene.2009.16.issue-7</doi><numberingGroup><numbering type="journalVolume" number="16">16</numbering><numbering type="journalIssue" number="7">7</numbering></numberingGroup><coverDate startDate="2009-07">July 2009</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="2" status="forIssue"><doi origin="wiley">10.1111/j.1468-1331.2009.02646.x</doi><idGroup><id type="unit" value="ENE2646"></id></idGroup><countGroup><count type="pageTotal" number="9"></count></countGroup><titleGroup><title type="tocHeading1">EFNS Guidelines/CME Article</title></titleGroup><copyright>© 2009 The Author(s). Journal compilation © 2009 EFNS</copyright><eventGroup><event type="firstOnline" date="2009-05-12"></event><event type="publishedOnlineFinalForm" date="2009-06-03"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.3.2 mode:FullText source:FullText result:FullText" date="2010-03-06"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-24"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-16"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="777">777</numbering><numbering type="pageLast" number="785">785</numbering></numberingGroup><correspondenceTo>Hanne F. Harbo, MD, PhD. Department of Neurology, Ullevål, Oslo University Hospital, 0407 Oslo, Norway (tel.: +47 22118636/+47 99546680; fax: +47 23027455; e‐mail: <email>h.f.harbo@medisin.uio.no</email>/<email>hahb@uus.no</email>).</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:ENE.ENE2646.pdf"></link></linkGroup></publicationMeta><contentMeta><unparsedEditorialHistory>Received 6 November 2008 Accepted 9 April 2009</unparsedEditorialHistory><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="2"></count></countGroup><titleGroup><title type="main">EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias</title><title type="shortAuthors">H. F. Harbo <i>et al.</i></title><title type="short">Neurogenetic guidelines on HD, PD and dystonia</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1"><personName><givenNames>H. 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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.</p><p><b>Methods: </b> 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.</p><p><b>Results and conclusion: </b> 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.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1" numbered="no"><p> <b>This is a Continuing Medical Education article, and can be found with corresponding questions on the internet at </b><url href="http://www.efns.org/content.php?pid=132">http://www.efns.org/content.php?pid=132</url>. Certificates for correctly answering the questions will be issued by the EFNS.</p></note><note xml:id="artCateg-note" numbered="no"><p><b>This is a Continuing Medical Education article, and can be found with corresponding questions on the internet at </b><url href="http://www.efns.org/content.php?pid=132">http://www.efns.org/content.php?pid=132</url>. Certificates for correctly answering the questions will be issued by the EFNS.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias</title></titleInfo><titleInfo type="abbreviated"><title>Neurogenetic guidelines on HD, PD and dystonia</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington’s disease, Parkinson’s disease and dystonias</title></titleInfo><name type="personal"><namePart type="given">H. F.</namePart><namePart type="family">Harbo</namePart><affiliation>Department of Neurology, Ullevål, Oslo University Hospital, and Faculty Division Ullevål, University of Oslo, Oslo, Norway</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J.</namePart><namePart type="family">Finsterer</namePart><affiliation>Department of Neurology, Rudolfstiftung and Danube University, Krems, Vienna, Austria</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J.</namePart><namePart type="family">Baets</namePart><affiliation>Department of Neurology, University Hospital of Antwerpen, Antwerpen, Belgium</affiliation><affiliation>Department of Molecular Genetics, VIB; and Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerpen, Antwerpen, Belgium</affiliation><affiliation>Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerp, Antwerpen, Belgium</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C.</namePart><namePart type="family">Van Broeckhoven</namePart><affiliation>Department of Molecular Genetics, VIB; and Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerpen, Antwerpen, Belgium</affiliation><affiliation>Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerp, Antwerpen, Belgium</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">S.</namePart><namePart type="family">Di Donato</namePart><affiliation>Fondazione‐IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">B.</namePart><namePart type="family">Fontaine</namePart><affiliation>Assistance Publique‐Hôpitaux de Paris, Centre de référence des canalopathies musculaires, Groupe Hospitalier Pitié‐Salpêtrière, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">P.</namePart><namePart type="family">De Jonghe</namePart><affiliation>Department of Neurology, University Hospital of Antwerpen, Antwerpen, Belgium</affiliation><affiliation>Department of Molecular Genetics, VIB; and Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerpen, Antwerpen, Belgium</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Lossos</namePart><affiliation>Department of Neurology, Hadassah University Hospital, Jerusalem, Israel</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">T.</namePart><namePart type="family">Lynch</namePart><affiliation>The Dublin Neurological Institute, Mater Misericordiae University, Beaumont & Mater Private Hospitals, Dublin, Ireland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C.</namePart><namePart type="family">Mariotti</namePart><affiliation>Unit of Biochemistry and Genetic of Neurogenetic and Metabolic Diseases, IRCCS Foundation, Neurological Institute Carlo Besta, Milan, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">L.</namePart><namePart type="family">Schöls</namePart><affiliation>Clinical Neurogenetics, Center of Neurology and Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Spinazzola</namePart><affiliation>Division of Molecular Neurogenetics, IRCCS Foundation Neurological Institute Carlo Besta, Milan, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Z.</namePart><namePart type="family">Szolnoki</namePart><affiliation>Department of Neurology and Cerebrovascular Diseases, Pandy County Hospital, Gyula, Hungary</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">S. J.</namePart><namePart type="family">Tabrizi</namePart><affiliation>Department of Neurodegenerative Disease, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">C.</namePart><namePart type="family">Tallaksen</namePart><affiliation>Department of Neurology, Ullevål, Oslo University Hospital, and Faculty Division Ullevål, University of Oslo, Oslo, Norway</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">M.</namePart><namePart type="family">Zeviani</namePart><affiliation>Division of Molecular Neurogenetics, IRCCS Foundation Neurological Institute Carlo Besta, Milan, Italy</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">J.‐M.</namePart><namePart type="family">Burgunder</namePart><affiliation>Department of Neurology, University of Bern, Bern, Switzerland</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">T.</namePart><namePart type="family">Gasser</namePart><affiliation>Department of Neurodegenerative Diseases, Hertie‐Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">2009-07</dateIssued><edition>Received 6 November 2008 Accepted 9 April 2009</edition><copyrightDate encoding="w3cdtf">2009</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="tables">2</extent></physicalDescription><abstract 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.</abstract><subject lang="en"><genre>Keywords</genre><topic>dystonia</topic><topic>EFNS task force</topic><topic>Huntington’s disease</topic><topic>molecular diagnosis</topic><topic>neurogenetic</topic><topic>Parkinson disease</topic></subject><relatedItem type="host"><titleInfo><title>European Journal of Neurology</title></titleInfo><genre type="Journal">journal</genre><identifier type="ISSN">1351-5101</identifier><identifier type="eISSN">1468-1331</identifier><identifier type="DOI">10.1111/(ISSN)1468-1331</identifier><identifier type="PublisherID">ENE</identifier><part><date>2009</date><detail type="volume"><caption>vol.</caption><number>16</number></detail><detail type="issue"><caption>no.</caption><number>7</number></detail><extent unit="pages"><start>777</start><end>785</end><total>9</total></extent></part></relatedItem><identifier type="istex">C1F73A8F0E327250605A71574ACEB7D0F74A3537</identifier><identifier type="DOI">10.1111/j.1468-1331.2009.02646.x</identifier><identifier type="ArticleID">ENE2646</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2009 The Author(s). 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