Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
Identifieur interne : 002206 ( Istex/Corpus ); précédent : 002205; suivant : 002207Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
Auteurs : Katja Lohmann ; Robert A. Wilcox ; Susen Winkler ; Alfredo Ramirez ; Aleksandar Rakovic ; Jin-Sung Park ; Björn Arns ; Thora Lohnau ; Justus Groen ; Meike Kasten ; Norbert Brüggemann ; Johann Hagenah ; Alexander Schmidt ; Frank J. Kaiser ; Kishore R. Kumar ; Katja Zschiedrich ; Daniel Alvarez-Fischer ; Eckart Altenmüller ; Andreas Ferbert ; Anthony E. Lang ; Alexander Münchau ; Vladimir Kostic ; Kristina Simonyan ; Marc Agzarian ; Laurie J. Ozelius ; Antonius P. M. Langeveld ; Carolyn M. Sue ; Marina A. J. Tijssen ; Christine KleinSource :
- Annals of Neurology [ 0364-5134 ] ; 2013-04.
Abstract
A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family.
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DOI: 10.1002/ana.23829
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<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene</title><author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Wilcox, Robert A" sort="Wilcox, Robert A" uniqKey="Wilcox R" first="Robert A." last="Wilcox">Robert A. Wilcox</name><affiliation><mods:affiliation>Department of Neurology, Flinders Medical Centre, Adelaide, Australia</mods:affiliation></affiliation></author><author><name sortKey="Winkler, Susen" sort="Winkler, Susen" uniqKey="Winkler S" first="Susen" last="Winkler">Susen Winkler</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Psychiatry and Psychotherapy, University of Bonn, Bonn, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Institute of Human Genetics, University of Bonn, Bonn, Germany</mods:affiliation></affiliation></author><author><name sortKey="Rakovic, Aleksandar" sort="Rakovic, Aleksandar" uniqKey="Rakovic A" first="Aleksandar" last="Rakovic">Aleksandar Rakovic</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Park, Jin Ung" sort="Park, Jin Ung" uniqKey="Park J" first="Jin-Sung" last="Park">Jin-Sung Park</name><affiliation><mods:affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</mods:affiliation></affiliation></author><author><name sortKey="Arns, Bjorn" sort="Arns, Bjorn" uniqKey="Arns B" first="Björn" last="Arns">Björn Arns</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Lohnau, Thora" sort="Lohnau, Thora" uniqKey="Lohnau T" first="Thora" last="Lohnau">Thora Lohnau</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Groen, Justus" sort="Groen, Justus" uniqKey="Groen J" first="Justus" last="Groen">Justus Groen</name><affiliation><mods:affiliation>Department of Neurology, Academic Medical Center, Amsterdam, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Kaiser, Frank J" sort="Kaiser, Frank J" uniqKey="Kaiser F" first="Frank J." last="Kaiser">Frank J. Kaiser</name><affiliation><mods:affiliation>Institute of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Kumar, Kishore R" sort="Kumar, Kishore R" uniqKey="Kumar K" first="Kishore R." last="Kumar">Kishore R. Kumar</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</mods:affiliation></affiliation></author><author><name sortKey="Zschiedrich, Katja" sort="Zschiedrich, Katja" uniqKey="Zschiedrich K" first="Katja" last="Zschiedrich">Katja Zschiedrich</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Alvarez Ischer, Daniel" sort="Alvarez Ischer, Daniel" uniqKey="Alvarez Ischer D" first="Daniel" last="Alvarez-Fischer">Daniel Alvarez-Fischer</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Altenmuller, Eckart" sort="Altenmuller, Eckart" uniqKey="Altenmuller E" first="Eckart" last="Altenmüller">Eckart Altenmüller</name><affiliation><mods:affiliation>Institute of Music Physiology and Musicians' Medicine, Hanover University of Music, Drama, and Media, Hanover, Germany</mods:affiliation></affiliation></author><author><name sortKey="Ferbert, Andreas" sort="Ferbert, Andreas" uniqKey="Ferbert A" first="Andreas" last="Ferbert">Andreas Ferbert</name><affiliation><mods:affiliation>Clinic of Neurology, Kassel School of Medicine, Kassel, Germany</mods:affiliation></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><affiliation><mods:affiliation>Morton and Gloria Shulman Movement Disorders Center and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Ontario, Toronto, Canada</mods:affiliation></affiliation></author><author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name><affiliation><mods:affiliation>Department of Neurology, University Medical Center Eppendorf, Hamburg, Germany</mods:affiliation></affiliation></author><author><name sortKey="Kostic, Vladimir" sort="Kostic, Vladimir" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir Kostic</name><affiliation><mods:affiliation>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</mods:affiliation></affiliation></author><author><name sortKey="Simonyan, Kristina" sort="Simonyan, Kristina" uniqKey="Simonyan K" first="Kristina" last="Simonyan">Kristina Simonyan</name><affiliation><mods:affiliation>Departments of Neurology and Otolaryngology, Mount Sinai School of Medicine, NY, New York</mods:affiliation></affiliation></author><author><name sortKey="Agzarian, Marc" sort="Agzarian, Marc" uniqKey="Agzarian M" first="Marc" last="Agzarian">Marc Agzarian</name><affiliation><mods:affiliation>MRI Unit, Department of Radiology, Flinders Medical Centre, Adelaide, Australia</mods:affiliation></affiliation></author><author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name><affiliation><mods:affiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, NY, New York</mods:affiliation></affiliation></author><author><name sortKey="Langeveld, Antonius P M" sort="Langeveld, Antonius P M" uniqKey="Langeveld A" first="Antonius P. M." last="Langeveld">Antonius P. M. Langeveld</name><affiliation><mods:affiliation>Department of Otorhinolaryngology, Head and Neck Surgery, Leiden University Medical Center, Leiden, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M." last="Sue">Carolyn M. Sue</name><affiliation><mods:affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</mods:affiliation></affiliation></author><author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A. J." last="Tijssen">Marina A. J. Tijssen</name><affiliation><mods:affiliation>Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: christine.klein@neuro.uni-luebeck.de</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:F6A00D29EF6786FF6A04D8706628D149643C161B</idno><date when="2013" year="2013">2013</date><idno type="doi">10.1002/ana.23829</idno><idno type="url">https://api-v5.istex.fr/document/F6A00D29EF6786FF6A04D8706628D149643C161B/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002206</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002206</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene</title><author><name sortKey="Lohmann, Katja" sort="Lohmann, Katja" uniqKey="Lohmann K" first="Katja" last="Lohmann">Katja Lohmann</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Wilcox, Robert A" sort="Wilcox, Robert A" uniqKey="Wilcox R" first="Robert A." last="Wilcox">Robert A. Wilcox</name><affiliation><mods:affiliation>Department of Neurology, Flinders Medical Centre, Adelaide, Australia</mods:affiliation></affiliation></author><author><name sortKey="Winkler, Susen" sort="Winkler, Susen" uniqKey="Winkler S" first="Susen" last="Winkler">Susen Winkler</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Ramirez, Alfredo" sort="Ramirez, Alfredo" uniqKey="Ramirez A" first="Alfredo" last="Ramirez">Alfredo Ramirez</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Psychiatry and Psychotherapy, University of Bonn, Bonn, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Institute of Human Genetics, University of Bonn, Bonn, Germany</mods:affiliation></affiliation></author><author><name sortKey="Rakovic, Aleksandar" sort="Rakovic, Aleksandar" uniqKey="Rakovic A" first="Aleksandar" last="Rakovic">Aleksandar Rakovic</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Park, Jin Ung" sort="Park, Jin Ung" uniqKey="Park J" first="Jin-Sung" last="Park">Jin-Sung Park</name><affiliation><mods:affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</mods:affiliation></affiliation></author><author><name sortKey="Arns, Bjorn" sort="Arns, Bjorn" uniqKey="Arns B" first="Björn" last="Arns">Björn Arns</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Lohnau, Thora" sort="Lohnau, Thora" uniqKey="Lohnau T" first="Thora" last="Lohnau">Thora Lohnau</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Groen, Justus" sort="Groen, Justus" uniqKey="Groen J" first="Justus" last="Groen">Justus Groen</name><affiliation><mods:affiliation>Department of Neurology, Academic Medical Center, Amsterdam, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Bruggemann, Norbert" sort="Bruggemann, Norbert" uniqKey="Bruggemann N" first="Norbert" last="Brüggemann">Norbert Brüggemann</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Hagenah, Johann" sort="Hagenah, Johann" uniqKey="Hagenah J" first="Johann" last="Hagenah">Johann Hagenah</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Schmidt, Alexander" sort="Schmidt, Alexander" uniqKey="Schmidt A" first="Alexander" last="Schmidt">Alexander Schmidt</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Kaiser, Frank J" sort="Kaiser, Frank J" uniqKey="Kaiser F" first="Frank J." last="Kaiser">Frank J. Kaiser</name><affiliation><mods:affiliation>Institute of Human Genetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Kumar, Kishore R" sort="Kumar, Kishore R" uniqKey="Kumar K" first="Kishore R." last="Kumar">Kishore R. Kumar</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</mods:affiliation></affiliation></author><author><name sortKey="Zschiedrich, Katja" sort="Zschiedrich, Katja" uniqKey="Zschiedrich K" first="Katja" last="Zschiedrich">Katja Zschiedrich</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Alvarez Ischer, Daniel" sort="Alvarez Ischer, Daniel" uniqKey="Alvarez Ischer D" first="Daniel" last="Alvarez-Fischer">Daniel Alvarez-Fischer</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation></author><author><name sortKey="Altenmuller, Eckart" sort="Altenmuller, Eckart" uniqKey="Altenmuller E" first="Eckart" last="Altenmüller">Eckart Altenmüller</name><affiliation><mods:affiliation>Institute of Music Physiology and Musicians' Medicine, Hanover University of Music, Drama, and Media, Hanover, Germany</mods:affiliation></affiliation></author><author><name sortKey="Ferbert, Andreas" sort="Ferbert, Andreas" uniqKey="Ferbert A" first="Andreas" last="Ferbert">Andreas Ferbert</name><affiliation><mods:affiliation>Clinic of Neurology, Kassel School of Medicine, Kassel, Germany</mods:affiliation></affiliation></author><author><name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name><affiliation><mods:affiliation>Morton and Gloria Shulman Movement Disorders Center and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Ontario, Toronto, Canada</mods:affiliation></affiliation></author><author><name sortKey="Munchau, Alexander" sort="Munchau, Alexander" uniqKey="Munchau A" first="Alexander" last="Münchau">Alexander Münchau</name><affiliation><mods:affiliation>Department of Neurology, University Medical Center Eppendorf, Hamburg, Germany</mods:affiliation></affiliation></author><author><name sortKey="Kostic, Vladimir" sort="Kostic, Vladimir" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir Kostic</name><affiliation><mods:affiliation>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</mods:affiliation></affiliation></author><author><name sortKey="Simonyan, Kristina" sort="Simonyan, Kristina" uniqKey="Simonyan K" first="Kristina" last="Simonyan">Kristina Simonyan</name><affiliation><mods:affiliation>Departments of Neurology and Otolaryngology, Mount Sinai School of Medicine, NY, New York</mods:affiliation></affiliation></author><author><name sortKey="Agzarian, Marc" sort="Agzarian, Marc" uniqKey="Agzarian M" first="Marc" last="Agzarian">Marc Agzarian</name><affiliation><mods:affiliation>MRI Unit, Department of Radiology, Flinders Medical Centre, Adelaide, Australia</mods:affiliation></affiliation></author><author><name sortKey="Ozelius, Laurie J" sort="Ozelius, Laurie J" uniqKey="Ozelius L" first="Laurie J." last="Ozelius">Laurie J. Ozelius</name><affiliation><mods:affiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, NY, New York</mods:affiliation></affiliation></author><author><name sortKey="Langeveld, Antonius P M" sort="Langeveld, Antonius P M" uniqKey="Langeveld A" first="Antonius P. M." last="Langeveld">Antonius P. M. Langeveld</name><affiliation><mods:affiliation>Department of Otorhinolaryngology, Head and Neck Surgery, Leiden University Medical Center, Leiden, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Sue, Carolyn M" sort="Sue, Carolyn M" uniqKey="Sue C" first="Carolyn M." last="Sue">Carolyn M. Sue</name><affiliation><mods:affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</mods:affiliation></affiliation></author><author><name sortKey="Tijssen, Marina A J" sort="Tijssen, Marina A J" uniqKey="Tijssen M" first="Marina A. J." last="Tijssen">Marina A. J. Tijssen</name><affiliation><mods:affiliation>Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands</mods:affiliation></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation><mods:affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: christine.klein@neuro.uni-luebeck.de</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Annals of Neurology</title><title level="j" type="abbrev">Ann Neurol.</title><idno type="ISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><date type="published" when="2013-04">2013-04</date><biblScope unit="volume">73</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="537">537</biblScope><biblScope unit="page" to="545">545</biblScope></imprint><idno type="ISSN">0364-5134</idno></series><idno type="istex">F6A00D29EF6786FF6A04D8706628D149643C161B</idno><idno type="DOI">10.1002/ana.23829</idno><idno type="ArticleID">ANA23829</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0364-5134</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family.</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Katja Lohmann PhD</name><affiliations><json:string>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Robert A. Wilcox BMBS, PhD</name><affiliations><json:string>Department of Neurology, Flinders Medical Centre, Adelaide, Australia</json:string></affiliations></json:item><json:item><name>Susen Winkler BSc</name><affiliations><json:string>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Alfredo Ramirez MD</name><affiliations><json:string>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</json:string><json:string>Department of Psychiatry and Psychotherapy, University of Bonn, Bonn, Germany</json:string><json:string>Institute of Human Genetics, University of Bonn, Bonn, Germany</json:string></affiliations></json:item><json:item><name>Aleksandar Rakovic PhD</name><affiliations><json:string>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Jin‐Sung Park DVM, PhD</name><affiliations><json:string>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</json:string></affiliations></json:item><json:item><name>Björn Arns cand.med.</name><affiliations><json:string>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Thora Lohnau BSc</name><affiliations><json:string>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Justus Groen MD</name><affiliations><json:string>Department of Neurology, Academic Medical Center, Amsterdam, the Netherlands</json:string></affiliations></json:item><json:item><name>Meike Kasten MD</name><affiliations><json:string>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Norbert Brüggemann MD</name><affiliations><json:string>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Johann Hagenah MD</name><affiliations><json:string>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Alexander Schmidt MD</name><affiliations><json:string>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Frank J. Kaiser PhD</name><affiliations><json:string>Institute of Human Genetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Kishore R. Kumar MBBS, FRACP</name><affiliations><json:string>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</json:string><json:string>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</json:string></affiliations></json:item><json:item><name>Katja Zschiedrich MD</name><affiliations><json:string>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Daniel Alvarez‐Fischer MD</name><affiliations><json:string>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</json:string></affiliations></json:item><json:item><name>Eckart Altenmüller MD</name><affiliations><json:string>Institute of Music Physiology and Musicians' Medicine, Hanover University of Music, Drama, and Media, Hanover, Germany</json:string></affiliations></json:item><json:item><name>Andreas Ferbert MD</name><affiliations><json:string>Clinic of Neurology, Kassel School of Medicine, Kassel, Germany</json:string></affiliations></json:item><json:item><name>Anthony E. Lang MD</name><affiliations><json:string>Morton and Gloria Shulman Movement Disorders Center and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Ontario, Toronto, Canada</json:string></affiliations></json:item><json:item><name>Alexander Münchau MD</name><affiliations><json:string>Department of Neurology, University Medical Center Eppendorf, Hamburg, Germany</json:string></affiliations></json:item><json:item><name>Vladimir Kostic MD</name><affiliations><json:string>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</json:string></affiliations></json:item><json:item><name>Kristina Simonyan MD, PhD</name><affiliations><json:string>Departments of Neurology and Otolaryngology, Mount Sinai School of Medicine, NY, New York</json:string></affiliations></json:item><json:item><name>Marc Agzarian MD</name><affiliations><json:string>MRI Unit, Department of Radiology, Flinders Medical Centre, Adelaide, Australia</json:string></affiliations></json:item><json:item><name>Laurie J. Ozelius PhD</name><affiliations><json:string>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, NY, New York</json:string></affiliations></json:item><json:item><name>Antonius P. M. Langeveld MD, PhD</name><affiliations><json:string>Department of Otorhinolaryngology, Head and Neck Surgery, Leiden University Medical Center, Leiden, the Netherlands</json:string></affiliations></json:item><json:item><name>Carolyn M. Sue MBBS, FRACP, PhD</name><affiliations><json:string>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</json:string></affiliations></json:item><json:item><name>Marina A. J. Tijssen MD, PhD</name><affiliations><json:string>Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands</json:string></affiliations></json:item><json:item><name>Christine Klein MD</name><affiliations><json:string>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</json:string><json:string>E-mail: christine.klein@neuro.uni-luebeck.de</json:string></affiliations></json:item></author><articleId><json:string>ANA23829</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><qualityIndicators><score>5.194</score><pdfVersion>1.3</pdfVersion><pdfPageSize>612 x 800.957 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractCharCount>241</abstractCharCount><pdfWordCount>4762</pdfWordCount><pdfCharCount>31469</pdfCharCount><pdfPageCount>9</pdfPageCount><abstractWordCount>36</abstractWordCount></qualityIndicators><title>Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene</title><genre><json:string>article</json:string></genre><host><title>Annals of Neurology</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1531-8249</json:string></doi><issn><json:string>0364-5134</json:string></issn><eissn><json:string>1531-8249</json:string></eissn><publisherId><json:string>ANA</json:string></publisherId><volume>73</volume><issue>4</issue><pages><first>537</first><last>545</last><total>9</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Original Article</value></json:item></subject></host><categories><wos><json:string>science</json:string><json:string>neurosciences</json:string><json:string>clinical neurology</json:string></wos><scienceMetrix><json:string>health sciences</json:string><json:string>clinical medicine</json:string><json:string>neurology & neurosurgery</json:string></scienceMetrix></categories><publicationDate>2013</publicationDate><copyrightDate>2013</copyrightDate><doi><json:string>10.1002/ana.23829</json:string></doi><id>F6A00D29EF6786FF6A04D8706628D149643C161B</id><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api-v5.istex.fr/document/F6A00D29EF6786FF6A04D8706628D149643C161B/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api-v5.istex.fr/document/F6A00D29EF6786FF6A04D8706628D149643C161B/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api-v5.istex.fr/document/F6A00D29EF6786FF6A04D8706628D149643C161B/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a" type="main" xml:lang="en">Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Blackwell Publishing Ltd</publisher><availability><p>Copyright © 2012 American Neurological AssociationCopyright © 2012 American Neurological Association</p></availability><date>2012-12-26</date></publicationStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a" type="main" xml:lang="en">Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene</title><author xml:id="author-1"><persName><forename type="first">Katja</forename><surname>Lohmann</surname></persName><roleName type="degree">PhD</roleName><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation></author><author xml:id="author-2"><persName><forename type="first">Robert A.</forename><surname>Wilcox</surname></persName><roleName type="degree">BMBS, PhD</roleName><affiliation>Department of Neurology, Flinders Medical Centre, Adelaide, Australia</affiliation></author><author xml:id="author-3"><persName><forename type="first">Susen</forename><surname>Winkler</surname></persName><roleName type="degree">BSc</roleName><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation></author><author xml:id="author-4"><persName><forename type="first">Alfredo</forename><surname>Ramirez</surname></persName><roleName type="degree">MD</roleName><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Psychiatry and Psychotherapy, University of Bonn, Bonn, Germany</affiliation><affiliation>Institute of Human Genetics, University of Bonn, Bonn, Germany</affiliation></author><author xml:id="author-5"><persName><forename type="first">Aleksandar</forename><surname>Rakovic</surname></persName><roleName type="degree">PhD</roleName><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation></author><author xml:id="author-6"><persName><forename type="first">Jin‐Sung</forename><surname>Park</surname></persName><roleName type="degree">DVM, PhD</roleName><affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</affiliation></author><author xml:id="author-7"><persName><forename type="first">Björn</forename><surname>Arns</surname></persName><roleName type="degree">cand.med.</roleName><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation></author><author xml:id="author-8"><persName><forename type="first">Thora</forename><surname>Lohnau</surname></persName><roleName type="degree">BSc</roleName><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation></author><author xml:id="author-9"><persName><forename type="first">Justus</forename><surname>Groen</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Academic Medical Center, Amsterdam, the Netherlands</affiliation></author><author xml:id="author-10"><persName><forename type="first">Meike</forename><surname>Kasten</surname></persName><roleName type="degree">MD</roleName><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation></author><author xml:id="author-11"><persName><forename type="first">Norbert</forename><surname>Brüggemann</surname></persName><roleName type="degree">MD</roleName><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation></author><author xml:id="author-12"><persName><forename type="first">Johann</forename><surname>Hagenah</surname></persName><roleName type="degree">MD</roleName><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation></author><author xml:id="author-13"><persName><forename type="first">Alexander</forename><surname>Schmidt</surname></persName><roleName type="degree">MD</roleName><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation></author><author xml:id="author-14"><persName><forename type="first">Frank J.</forename><surname>Kaiser</surname></persName><roleName type="degree">PhD</roleName><affiliation>Institute of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation></author><author xml:id="author-15"><persName><forename type="first">Kishore R.</forename><surname>Kumar</surname></persName><roleName type="degree">MBBS, FRACP</roleName><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</affiliation></author><author xml:id="author-16"><persName><forename type="first">Katja</forename><surname>Zschiedrich</surname></persName><roleName type="degree">MD</roleName><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation></author><author xml:id="author-17"><persName><forename type="first">Daniel</forename><surname>Alvarez‐Fischer</surname></persName><roleName type="degree">MD</roleName><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation></author><author xml:id="author-18"><persName><forename type="first">Eckart</forename><surname>Altenmüller</surname></persName><roleName type="degree">MD</roleName><affiliation>Institute of Music Physiology and Musicians' Medicine, Hanover University of Music, Drama, and Media, Hanover, Germany</affiliation></author><author xml:id="author-19"><persName><forename type="first">Andreas</forename><surname>Ferbert</surname></persName><roleName type="degree">MD</roleName><affiliation>Clinic of Neurology, Kassel School of Medicine, Kassel, Germany</affiliation></author><author xml:id="author-20"><persName><forename type="first">Anthony E.</forename><surname>Lang</surname></persName><roleName type="degree">MD</roleName><affiliation>Morton and Gloria Shulman Movement Disorders Center and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Ontario, Toronto, Canada</affiliation></author><author xml:id="author-21"><persName><forename type="first">Alexander</forename><surname>Münchau</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, University Medical Center Eppendorf, Hamburg, Germany</affiliation></author><author xml:id="author-22"><persName><forename type="first">Vladimir</forename><surname>Kostic</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</affiliation></author><author xml:id="author-23"><persName><forename type="first">Kristina</forename><surname>Simonyan</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>Departments of Neurology and Otolaryngology, Mount Sinai School of Medicine, NY, New York</affiliation></author><author xml:id="author-24"><persName><forename type="first">Marc</forename><surname>Agzarian</surname></persName><roleName type="degree">MD</roleName><affiliation>MRI Unit, Department of Radiology, Flinders Medical Centre, Adelaide, Australia</affiliation></author><author xml:id="author-25"><persName><forename type="first">Laurie J.</forename><surname>Ozelius</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, NY, New York</affiliation></author><author xml:id="author-26"><persName><forename type="first">Antonius P. M.</forename><surname>Langeveld</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>Department of Otorhinolaryngology, Head and Neck Surgery, Leiden University Medical Center, Leiden, the Netherlands</affiliation></author><author xml:id="author-27"><persName><forename type="first">Carolyn M.</forename><surname>Sue</surname></persName><roleName type="degree">MBBS, FRACP, PhD</roleName><affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</affiliation></author><author xml:id="author-28"><persName><forename type="first">Marina A. J.</forename><surname>Tijssen</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands</affiliation></author><author xml:id="author-29"><persName><forename type="first">Christine</forename><surname>Klein</surname></persName><roleName type="degree">MD</roleName><email>christine.klein@neuro.uni-luebeck.de</email><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation></author></analytic><monogr><title level="j">Annals of Neurology</title><title level="j" type="abbrev">Ann Neurol.</title><idno type="pISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><idno type="DOI">10.1002/(ISSN)1531-8249</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><date type="published" when="2013-04"></date><biblScope unit="volume">73</biblScope><biblScope unit="issue">4</biblScope><biblScope unit="page" from="537">537</biblScope><biblScope unit="page" to="545">545</biblScope></imprint></monogr><idno type="istex">F6A00D29EF6786FF6A04D8706628D149643C161B</idno><idno type="DOI">10.1002/ana.23829</idno><idno type="ArticleID">ANA23829</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2012-12-26</date></creation><langUsage><language ident="en">en</language></langUsage><abstract><p>A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family.</p></abstract><abstract><p>Genome‐wide linkage analysis was carried out in 14 family members followed by genome sequencing in 2 individuals. The index patient underwent a detailed neurological follow‐up examination, including electrophysiological studies and magnetic resonance imaging scanning. Biopsies of the skin and olfactory mucosa were obtained, and expression levels of TUBB4 mRNA were determined by quantitative real‐time polymerase chain reaction in 3 different cell types. All exons of TUBB4 were screened for mutations in 394 unrelated dystonia patients.</p></abstract><abstract><p>The disease‐causing gene was mapped to a 23cM region on chromosome 19p13.3‐p13.2 with a maximum multipoint LOD score of 5.338 at markers D9S427 and D9S1034. Genome sequencing revealed a missense variant in the TUBB4 (tubulin beta‐4; Arg2Gly) gene as the likely cause of disease. Sequencing of TUBB4 in 394 unrelated dystonia patients revealed another missense variant (Ala271Thr) in a familial case of segmental dystonia with spasmodic dysphonia. mRNA expression studies demonstrated significantly reduced levels of mutant TUBB4 mRNA in different cell types from a heterozygous Arg2Gly mutation carrier compared to controls.</p></abstract><abstract><p>A mutation in TUBB4 causes DYT4 dystonia in this Australian family with so‐called whispering dysphonia, and other mutations in TUBB4 may contribute to spasmodic dysphonia. Given that TUBB4 is a neuronally expressed tubulin, our results imply abnormal microtubule function as a novel mechanism in the pathophysiology of dystonia. Ann Neurol 2013;73:537–545</p></abstract><textClass><keywords scheme="Journal Subject"><list><head>article-category</head><item><term>Original Article</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2012-09-19">Received</change><change when="2012-11-30">Registration</change><change when="2012-12-26">Created</change><change when="2013-04">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api-v5.istex.fr/document/F6A00D29EF6786FF6A04D8706628D149643C161B/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" xml:id="ana23829"><header><publicationMeta level="product"><doi origin="wiley" registered="yes">10.1002/(ISSN)1531-8249</doi><issn type="print">0364-5134</issn><issn type="electronic">1531-8249</issn><idGroup><id type="product" value="ANA"></id></idGroup><titleGroup><title type="main" sort="ANNALS OF NEUROLOGY">Annals of Neurology</title><title type="short">Ann Neurol.</title></titleGroup></publicationMeta><publicationMeta level="part" position="40"><doi>10.1002/ana.v73.4</doi><copyright ownership="thirdParty">Copyright © 2012 American Neurological Association</copyright><numberingGroup><numbering type="journalVolume" number="73">73</numbering><numbering type="journalIssue">4</numbering></numberingGroup><coverDate startDate="2013-04">April 2013</coverDate></publicationMeta><publicationMeta level="unit" position="160" type="article" status="forIssue"><doi>10.1002/ana.23829</doi><idGroup><id type="unit" value="ANA23829"></id></idGroup><countGroup><count type="pageTotal" number="9"></count></countGroup><titleGroup><title type="articleCategory">Original Article</title><title type="tocHeading1">Original Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2012 American Neurological Association</copyright><eventGroup><event type="manuscriptReceived" date="2012-09-19"></event><event type="manuscriptRevised" date="2012-11-13"></event><event type="manuscriptAccepted" date="2012-11-30"></event><event type="xmlCreated" agent="Cenveo Publisher Services" date="2012-12-26"></event><event type="publishedOnlineAccepted" date="2012-12-13"></event><event type="publishedOnlineEarlyUnpaginated" date="2013-04-17"></event><event type="publishedOnlineFinalForm" date="2013-05-21"></event><event type="firstOnline" date="2013-04-17"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-03"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.6.4 mode:FullText" date="2015-10-04"></event></eventGroup><numberingGroup><numbering type="pageFirst">537</numbering><numbering type="pageLast">545</numbering></numberingGroup><correspondenceTo>Address correspondence to Dr Klein, Institute of Neurogenetics, University of Lübeck; Ratzeburger Allee 160; 23538 Lübeck, Germany. E‐mail: <email>christine.klein@neuro.uni-luebeck.de</email></correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:ANA.ANA23829.pdf"></link></linkGroup></publicationMeta><contentMeta><titleGroup><title type="main">Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the <i>TUBB4</i> gene</title><title type="short"><i>TUBB4</i> and DYT4 Dystonia</title><title type="shortAuthors">Lohmann et al</title></titleGroup><creators><creator affiliationRef="#ana23829-aff-0001" creatorRole="author" xml:id="ana23829-cr-0001"><personName><givenNames>Katja</givenNames><familyName>Lohmann</familyName><degrees>PhD</degrees></personName></creator><creator affiliationRef="#ana23829-aff-0002" creatorRole="author" xml:id="ana23829-cr-0002"><personName><givenNames>Robert A.</givenNames><familyName>Wilcox</familyName><degrees>BMBS, PhD</degrees></personName></creator><creator affiliationRef="#ana23829-aff-0001" creatorRole="author" 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creatorRole="author" xml:id="ana23829-cr-0025"><personName><givenNames>Laurie J.</givenNames><familyName>Ozelius</familyName><degrees>PhD</degrees></personName></creator><creator affiliationRef="#ana23829-aff-0016" creatorRole="author" xml:id="ana23829-cr-0026"><personName><givenNames>Antonius P. M.</givenNames><familyName>Langeveld</familyName><degrees>MD, PhD</degrees></personName></creator><creator affiliationRef="#ana23829-aff-0005" creatorRole="author" xml:id="ana23829-cr-0027"><personName><givenNames>Carolyn M.</givenNames><familyName>Sue</familyName><degrees>MBBS, FRACP, PhD</degrees></personName></creator><creator affiliationRef="#ana23829-aff-0017" creatorRole="author" xml:id="ana23829-cr-0028"><personName><givenNames>Marina A. J.</givenNames><familyName>Tijssen</familyName><degrees>MD, PhD</degrees></personName></creator><creator affiliationRef="#ana23829-aff-0001" corresponding="yes" creatorRole="author" xml:id="ana23829-cr-0029"><personName><givenNames>Christine</givenNames><familyName>Klein</familyName><degrees>MD</degrees></personName></creator></creators><affiliationGroup><affiliation countryCode="DE" type="organization" xml:id="ana23829-aff-0001"><orgDiv>Institute of Neurogenetics</orgDiv><orgName>University of Lübeck</orgName><address><city>Lübeck</city><country>Germany</country></address></affiliation><affiliation countryCode="AU" type="organization" xml:id="ana23829-aff-0002"><orgDiv>Department of Neurology</orgDiv><orgName>Flinders Medical Centre</orgName><address><city>Adelaide</city><country>Australia</country></address></affiliation><affiliation countryCode="DE" type="organization" xml:id="ana23829-aff-0003"><orgDiv>Department of Psychiatry and Psychotherapy</orgDiv><orgName>University of Bonn</orgName><address><city>Bonn</city><country>Germany</country></address></affiliation><affiliation countryCode="DE" type="organization" xml:id="ana23829-aff-0004"><orgName>Institute of Human Genetics, University of Bonn</orgName><address><city>Bonn</city><country>Germany</country></address></affiliation><affiliation countryCode="AU" type="organization" xml:id="ana23829-aff-0005"><orgDiv>Departments of Neurology and Neurogenetics</orgDiv><orgName>Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney</orgName><address><city>Sydney</city><country>Australia</country></address></affiliation><affiliation countryCode="NL" type="organization" xml:id="ana23829-aff-0006"><orgDiv>Department of Neurology</orgDiv><orgName>Academic Medical Center</orgName><address><city>Amsterdam</city><country>the Netherlands</country></address></affiliation><affiliation countryCode="DE" type="organization" xml:id="ana23829-aff-0007"><orgDiv>Institute of Human Genetics</orgDiv><orgName>University of Lübeck</orgName><address><city>Lübeck</city><country>Germany</country></address></affiliation><affiliation countryCode="DE" type="organization" xml:id="ana23829-aff-0008"><orgDiv>Institute of Music Physiology and Musicians' Medicine</orgDiv><orgName>Hanover University of Music, Drama, and Media</orgName><address><city>Hanover</city><country>Germany</country></address></affiliation><affiliation countryCode="DE" type="organization" xml:id="ana23829-aff-0009"><orgDiv>Clinic of Neurology</orgDiv><orgName>Kassel School of Medicine</orgName><address><city>Kassel</city><country>Germany</country></address></affiliation><affiliation countryCode="CA" type="organization" xml:id="ana23829-aff-0010"><orgDiv>Morton and Gloria Shulman Movement Disorders Center and the Edmond J. Safra Program in Parkinson's Disease</orgDiv><orgName>Toronto Western Hospital, University of Toronto</orgName><address><city>Toronto</city><countryPart>Ontario</countryPart><country>Canada</country></address></affiliation><affiliation countryCode="DE" type="organization" xml:id="ana23829-aff-0011"><orgDiv>Department of Neurology</orgDiv><orgName>University Medical Center Eppendorf</orgName><address><city>Hamburg</city><country>Germany</country></address></affiliation><affiliation countryCode="RS" type="organization" xml:id="ana23829-aff-0012"><orgDiv>Department of Neurology</orgDiv><orgName>School of Medicine, University of Belgrade</orgName><address><city>Belgrade</city><country>Serbia</country></address></affiliation><affiliation countryCode="US" type="organization" xml:id="ana23829-aff-0013"><orgDiv>Departments of Neurology and Otolaryngology</orgDiv><orgName>Mount Sinai School of Medicine</orgName><address><city>New York</city><countryPart>NY</countryPart></address></affiliation><affiliation countryCode="AU" type="organization" xml:id="ana23829-aff-0014"><orgDiv>MRI Unit</orgDiv><orgDiv>Department of Radiology</orgDiv><orgName>Flinders Medical Centre</orgName><address><city>Adelaide</city><country>Australia</country></address></affiliation><affiliation countryCode="US" type="organization" xml:id="ana23829-aff-0015"><orgDiv>Department of Genetics and Genomic Sciences</orgDiv><orgName>Mount Sinai School of Medicine</orgName><address><city>New York</city><countryPart>NY</countryPart></address></affiliation><affiliation countryCode="NL" type="organization" xml:id="ana23829-aff-0016"><orgDiv>Department of Otorhinolaryngology</orgDiv><orgName>Head and Neck Surgery, Leiden University Medical Center</orgName><address><city>Leiden</city><country>the Netherlands</country></address></affiliation><affiliation countryCode="NL" type="organization" xml:id="ana23829-aff-0017"><orgDiv>Department of Neurology</orgDiv><orgName>University Medical Center Groningen, University of Groningen</orgName><address><city>Groningen</city><country>the Netherlands</country></address></affiliation></affiliationGroup><supportingInformation><p>Additional Supporting Information may be found in the online version of this article.</p><supportingInfoItem><mediaResource alt="application/pdf" href="urn-x:wiley:03645134:media:ana23829:ana23829-sup-0001-suppinfo"></mediaResource><caption>Supplementary Information</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main"><section xml:id="ana23829-sec-0001"><title type="main">Objective</title><p>A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family.</p></section><section xml:id="ana23829-sec-0002"><title type="main">Methods</title><p>Genome‐wide linkage analysis was carried out in 14 family members followed by genome sequencing in 2 individuals. The index patient underwent a detailed neurological follow‐up examination, including electrophysiological studies and magnetic resonance imaging scanning. Biopsies of the skin and olfactory mucosa were obtained, and expression levels of <i>TUBB4</i> mRNA were determined by quantitative real‐time polymerase chain reaction in 3 different cell types. All exons of TUBB4 were screened for mutations in 394 unrelated dystonia patients.</p></section><section xml:id="ana23829-sec-0003"><title type="main">Results</title><p>The disease‐causing gene was mapped to a 23cM region on chromosome 19p13.3‐p13.2 with a maximum multipoint LOD score of 5.338 at markers D9S427 and D9S1034. Genome sequencing revealed a missense variant in the <i>TUBB4</i> (tubulin beta‐4; Arg2Gly) gene as the likely cause of disease. Sequencing of <i>TUBB4</i> in 394 unrelated dystonia patients revealed another missense variant (Ala271Thr) in a familial case of segmental dystonia with spasmodic dysphonia. mRNA expression studies demonstrated significantly reduced levels of mutant <i>TUBB4</i> mRNA in different cell types from a heterozygous Arg2Gly mutation carrier compared to controls.</p></section><section xml:id="ana23829-sec-0004"><title type="main">Interpretation</title><p>A mutation in <i>TUBB4</i> causes DYT4 dystonia in this Australian family with so‐called whispering dysphonia, and other mutations in <i>TUBB4</i> may contribute to spasmodic dysphonia. Given that TUBB4 is a neuronally expressed tubulin, our results imply abnormal microtubule function as a novel mechanism in the pathophysiology of dystonia. Ann Neurol 2013;73:537–545</p></section></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>TUBB4 and DYT4 Dystonia</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene</title></titleInfo><name type="personal"><namePart type="given">Katja</namePart><namePart type="family">Lohmann</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Robert A.</namePart><namePart type="family">Wilcox</namePart><namePart type="termsOfAddress">BMBS, PhD</namePart><affiliation>Department of Neurology, Flinders Medical Centre, Adelaide, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Susen</namePart><namePart type="family">Winkler</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alfredo</namePart><namePart type="family">Ramirez</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Department of Psychiatry and Psychotherapy, University of Bonn, Bonn, Germany</affiliation><affiliation>Institute of Human Genetics, University of Bonn, Bonn, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Aleksandar</namePart><namePart type="family">Rakovic</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jin‐Sung</namePart><namePart type="family">Park</namePart><namePart type="termsOfAddress">DVM, PhD</namePart><affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Björn</namePart><namePart type="family">Arns</namePart><namePart type="termsOfAddress">cand.med.</namePart><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Thora</namePart><namePart type="family">Lohnau</namePart><namePart type="termsOfAddress">BSc</namePart><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Justus</namePart><namePart type="family">Groen</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Academic Medical Center, Amsterdam, the Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Meike</namePart><namePart type="family">Kasten</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Norbert</namePart><namePart type="family">Brüggemann</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Johann</namePart><namePart type="family">Hagenah</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexander</namePart><namePart type="family">Schmidt</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Frank J.</namePart><namePart type="family">Kaiser</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Institute of Human Genetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kishore R.</namePart><namePart type="family">Kumar</namePart><namePart type="termsOfAddress">MBBS, FRACP</namePart><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation><affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Katja</namePart><namePart type="family">Zschiedrich</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Daniel</namePart><namePart type="family">Alvarez‐Fischer</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Eckart</namePart><namePart type="family">Altenmüller</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Music Physiology and Musicians' Medicine, Hanover University of Music, Drama, and Media, Hanover, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andreas</namePart><namePart type="family">Ferbert</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Clinic of Neurology, Kassel School of Medicine, Kassel, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anthony E.</namePart><namePart type="family">Lang</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Morton and Gloria Shulman Movement Disorders Center and the Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, University of Toronto, Ontario, Toronto, Canada</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Alexander</namePart><namePart type="family">Münchau</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, University Medical Center Eppendorf, Hamburg, Germany</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Vladimir</namePart><namePart type="family">Kostic</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, School of Medicine, University of Belgrade, Belgrade, Serbia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kristina</namePart><namePart type="family">Simonyan</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Departments of Neurology and Otolaryngology, Mount Sinai School of Medicine, NY, New York</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marc</namePart><namePart type="family">Agzarian</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>MRI Unit, Department of Radiology, Flinders Medical Centre, Adelaide, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Laurie J.</namePart><namePart type="family">Ozelius</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, NY, New York</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Antonius P. M.</namePart><namePart type="family">Langeveld</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Otorhinolaryngology, Head and Neck Surgery, Leiden University Medical Center, Leiden, the Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Carolyn M.</namePart><namePart type="family">Sue</namePart><namePart type="termsOfAddress">MBBS, FRACP, PhD</namePart><affiliation>Departments of Neurology and Neurogenetics, Royal North Shore Hospital and Kolling Institute of Medical Research, University of Sydney, Sydney, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marina A. J.</namePart><namePart type="family">Tijssen</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Christine</namePart><namePart type="family">Klein</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Institute of Neurogenetics, University of Lübeck, Lübeck, Germany</affiliation><affiliation>E-mail: christine.klein@neuro.uni-luebeck.de</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Blackwell Publishing Ltd</publisher><dateIssued encoding="w3cdtf">2013-04</dateIssued><dateCreated encoding="w3cdtf">2012-12-26</dateCreated><dateCaptured encoding="w3cdtf">2012-09-19</dateCaptured><dateValid encoding="w3cdtf">2012-11-30</dateValid><copyrightDate encoding="w3cdtf">2013</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract>A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family.</abstract><abstract>Genome‐wide linkage analysis was carried out in 14 family members followed by genome sequencing in 2 individuals. The index patient underwent a detailed neurological follow‐up examination, including electrophysiological studies and magnetic resonance imaging scanning. Biopsies of the skin and olfactory mucosa were obtained, and expression levels of TUBB4 mRNA were determined by quantitative real‐time polymerase chain reaction in 3 different cell types. All exons of TUBB4 were screened for mutations in 394 unrelated dystonia patients.</abstract><abstract>The disease‐causing gene was mapped to a 23cM region on chromosome 19p13.3‐p13.2 with a maximum multipoint LOD score of 5.338 at markers D9S427 and D9S1034. Genome sequencing revealed a missense variant in the TUBB4 (tubulin beta‐4; Arg2Gly) gene as the likely cause of disease. Sequencing of TUBB4 in 394 unrelated dystonia patients revealed another missense variant (Ala271Thr) in a familial case of segmental dystonia with spasmodic dysphonia. mRNA expression studies demonstrated significantly reduced levels of mutant TUBB4 mRNA in different cell types from a heterozygous Arg2Gly mutation carrier compared to controls.</abstract><abstract>A mutation in TUBB4 causes DYT4 dystonia in this Australian family with so‐called whispering dysphonia, and other mutations in TUBB4 may contribute to spasmodic dysphonia. Given that TUBB4 is a neuronally expressed tubulin, our results imply abnormal microtubule function as a novel mechanism in the pathophysiology of dystonia. Ann Neurol 2013;73:537–545</abstract><relatedItem type="host"><titleInfo><title>Annals of Neurology</title></titleInfo><titleInfo type="abbreviated"><title>Ann Neurol.</title></titleInfo><genre type="journal">journal</genre><note type="content"> Additional Supporting Information may be found in the online version of this article.Supporting Info Item: Supplementary Information - </note><subject><genre>article-category</genre><topic>Original Article</topic></subject><identifier type="ISSN">0364-5134</identifier><identifier type="eISSN">1531-8249</identifier><identifier type="DOI">10.1002/(ISSN)1531-8249</identifier><identifier type="PublisherID">ANA</identifier><part><date>2013</date><detail type="volume"><caption>vol.</caption><number>73</number></detail><detail type="issue"><caption>no.</caption><number>4</number></detail><extent unit="pages"><start>537</start><end>545</end><total>9</total></extent></part></relatedItem><identifier type="istex">F6A00D29EF6786FF6A04D8706628D149643C161B</identifier><identifier type="DOI">10.1002/ana.23829</identifier><identifier type="ArticleID">ANA23829</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2012 American Neurological AssociationCopyright © 2012 American Neurological Association</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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