Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease
Identifieur interne : 000F89 ( Main/Corpus ); précédent : 000F88; suivant : 000F90Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease
Auteurs : Kenya Nishioka ; Shin Hayashi ; Matthew J. Farrer ; Andrew B. Singleton ; Hiroyo Yoshino ; Hisamasa Imai ; Toshiaki Kitami ; Kenichi Sato ; Ryu Kuroda ; Hiroyuki Tomiyama ; Koichi Mizoguchi ; Miho Murata ; Tatsushi Toda ; Issei Imoto ; Johji Inazawa ; Yoshikuni Mizuno ; Nobutaka HattoriSource :
- Annals of Neurology [ 0364-5134 ] ; 2006-02.
Abstract
Objective: Recently, genomic multiplications of α‐synuclein gene (SNCA) have been reported to cause hereditary early‐onset parkinsonism. The objective of this study was to assess the frequency of SNCA multiplications among autosomal dominant hereditary Parkinson's disease (ADPD). Methods: We screened 113 ADPD probands and 200 sporadic PD cases by quantitative polymerase chain reaction and confirmed SNCA multiplications by flurorescence in situ hybridization (FISH) and comparative genomic hybridization array. Results: Two families (two patients from Family A and one from Family B) with SNCA duplication were identified among ADPD patients. Even though they had the same SNCA duplication, one patient had dementia. Because there was exactly the same difference between the regions originated from each patient, the finding suggests that the phenotype of SNCA multiplication may be also influenced by the range of duplication region. We also detected asymptomatic carriers in the families of both patients. Interestingly, the penetrance ratio was 33.3% (2/6) in one kindred, indicating that the ratio was very much lower than expected. Interpretation: These two newly identified Japanese patients with SNCA duplication and the five previously identified American and European families with SNCA triplication or duplication mutations indicate that the incidence of SNCA multiplication may be more frequent than previously estimated. Ann Neurol 2006
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DOI: 10.1002/ana.20753
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Japan</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</mods:affiliation></affiliation></author><author><name sortKey="Mizoguchi, Koichi" sort="Mizoguchi, Koichi" uniqKey="Mizoguchi K" first="Koichi" last="Mizoguchi">Koichi Mizoguchi</name><affiliation><mods:affiliation>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</mods:affiliation></affiliation></author><author><name sortKey="Murata, Miho" sort="Murata, Miho" uniqKey="Murata M" first="Miho" last="Murata">Miho Murata</name><affiliation><mods:affiliation>Department of Neurology, Musashi Hospital, National Center of Neurology and Psychiatry, Kodaira</mods:affiliation></affiliation><affiliation><mods:affiliation>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan</mods:affiliation></affiliation></author><author><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name><affiliation><mods:affiliation>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan</mods:affiliation></affiliation><affiliation><mods:affiliation>Division of Functional Genomics, Osaka University Graduate School of Medicine, Suita, Japan</mods:affiliation></affiliation></author><author><name sortKey="Imoto, Issei" sort="Imoto, Issei" uniqKey="Imoto I" first="Issei" last="Imoto">Issei Imoto</name><affiliation><mods:affiliation>Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan</mods:affiliation></affiliation></author><author><name sortKey="Inazawa, Johji" sort="Inazawa, Johji" uniqKey="Inazawa J" first="Johji" last="Inazawa">Johji Inazawa</name><affiliation><mods:affiliation>Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan</mods:affiliation></affiliation></author><author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation></affiliation><affiliation><mods:affiliation>Research Institute for Disease of Old Ages, Juntendo University School of Medicine</mods:affiliation></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation></affiliation><affiliation><mods:affiliation>Research Institute for Disease of Old Ages, Juntendo University School of Medicine</mods:affiliation></affiliation><affiliation><mods:affiliation>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:0613181A8E5F5CBDC24E6162C6BDA3F32A64F97D</idno><date when="2006" year="2006">2006</date><idno type="doi">10.1002/ana.20753</idno><idno type="url">https://api.istex.fr/document/0613181A8E5F5CBDC24E6162C6BDA3F32A64F97D/fulltext/pdf</idno><idno type="wicri:Area/Main/Corpus">000F89</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease</title><author><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation></affiliation></author><author><name sortKey="Hayashi, Shin" sort="Hayashi, Shin" uniqKey="Hayashi S" first="Shin" last="Hayashi">Shin Hayashi</name><affiliation><mods:affiliation>Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan</mods:affiliation></affiliation></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name><affiliation><mods:affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</mods:affiliation></affiliation></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name><affiliation><mods:affiliation>Laboratory of Neurogenetics, National Institute on Aging, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Genetic Diseases Research Branch, National Institute of Health, Bethesda, MD</mods:affiliation></affiliation></author><author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name><affiliation><mods:affiliation>Research Institute for Disease of Old Ages, Juntendo University School of Medicine</mods:affiliation></affiliation></author><author><name sortKey="Imai, Hisamasa" sort="Imai, Hisamasa" uniqKey="Imai H" first="Hisamasa" last="Imai">Hisamasa Imai</name><affiliation><mods:affiliation>Deparment of Neurology, Tokyo Rinkai Hospital, Tokyo</mods:affiliation></affiliation></author><author><name sortKey="Kitami, Toshiaki" sort="Kitami, Toshiaki" uniqKey="Kitami T" first="Toshiaki" last="Kitami">Toshiaki Kitami</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation></affiliation></author><author><name sortKey="Sato, Kenichi" sort="Sato, Kenichi" uniqKey="Sato K" first="Kenichi" last="Sato">Kenichi Sato</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation></affiliation></author><author><name sortKey="Kuroda, Ryu" sort="Kuroda, Ryu" uniqKey="Kuroda R" first="Ryu" last="Kuroda">Ryu Kuroda</name><affiliation><mods:affiliation>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</mods:affiliation></affiliation></author><author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</mods:affiliation></affiliation></author><author><name sortKey="Mizoguchi, Koichi" sort="Mizoguchi, Koichi" uniqKey="Mizoguchi K" first="Koichi" last="Mizoguchi">Koichi Mizoguchi</name><affiliation><mods:affiliation>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</mods:affiliation></affiliation></author><author><name sortKey="Murata, Miho" sort="Murata, Miho" uniqKey="Murata M" first="Miho" last="Murata">Miho Murata</name><affiliation><mods:affiliation>Department of Neurology, Musashi Hospital, National Center of Neurology and Psychiatry, Kodaira</mods:affiliation></affiliation><affiliation><mods:affiliation>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan</mods:affiliation></affiliation></author><author><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name><affiliation><mods:affiliation>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan</mods:affiliation></affiliation><affiliation><mods:affiliation>Division of Functional Genomics, Osaka University Graduate School of Medicine, Suita, Japan</mods:affiliation></affiliation></author><author><name sortKey="Imoto, Issei" sort="Imoto, Issei" uniqKey="Imoto I" first="Issei" last="Imoto">Issei Imoto</name><affiliation><mods:affiliation>Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan</mods:affiliation></affiliation></author><author><name sortKey="Inazawa, Johji" sort="Inazawa, Johji" uniqKey="Inazawa J" first="Johji" last="Inazawa">Johji Inazawa</name><affiliation><mods:affiliation>Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan</mods:affiliation></affiliation></author><author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation></affiliation><affiliation><mods:affiliation>Research Institute for Disease of Old Ages, Juntendo University School of Medicine</mods:affiliation></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation><mods:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</mods:affiliation></affiliation><affiliation><mods:affiliation>Research Institute for Disease of Old Ages, Juntendo University School of Medicine</mods:affiliation></affiliation><affiliation><mods:affiliation>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Annals of Neurology</title><title level="j" type="sub">Official Journal of the American Neurological Association and the Child Neurology Society</title><title level="j" type="abbrev">Ann Neurol.</title><idno type="ISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-02">2006-02</date><biblScope unit="volume">59</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="298">298</biblScope><biblScope unit="page" to="309">309</biblScope></imprint><idno type="ISSN">0364-5134</idno></series><idno type="istex">0613181A8E5F5CBDC24E6162C6BDA3F32A64F97D</idno><idno type="DOI">10.1002/ana.20753</idno><idno type="ArticleID">ANA20753</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" xml:lang="en">Objective: Recently, genomic multiplications of α‐synuclein gene (SNCA) have been reported to cause hereditary early‐onset parkinsonism. The objective of this study was to assess the frequency of SNCA multiplications among autosomal dominant hereditary Parkinson's disease (ADPD). Methods: We screened 113 ADPD probands and 200 sporadic PD cases by quantitative polymerase chain reaction and confirmed SNCA multiplications by flurorescence in situ hybridization (FISH) and comparative genomic hybridization array. Results: Two families (two patients from Family A and one from Family B) with SNCA duplication were identified among ADPD patients. Even though they had the same SNCA duplication, one patient had dementia. Because there was exactly the same difference between the regions originated from each patient, the finding suggests that the phenotype of SNCA multiplication may be also influenced by the range of duplication region. We also detected asymptomatic carriers in the families of both patients. Interestingly, the penetrance ratio was 33.3% (2/6) in one kindred, indicating that the ratio was very much lower than expected. Interpretation: These two newly identified Japanese patients with SNCA duplication and the five previously identified American and European families with SNCA triplication or duplication mutations indicate that the incidence of SNCA multiplication may be more frequent than previously estimated. Ann Neurol 2006</div></front></TEI><istex><corpusName>wiley</corpusName><author><json:item><name>Kenya Nishioka MD</name><affiliations><json:string>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</json:string></affiliations></json:item><json:item><name>Shin Hayashi MD</name><affiliations><json:string>Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan</json:string></affiliations></json:item><json:item><name>Matthew J. Farrer PhD</name><affiliations><json:string>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</json:string></affiliations></json:item><json:item><name>Andrew B. Singleton PhD</name><affiliations><json:string>Laboratory of Neurogenetics, National Institute on Aging, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Genetic Diseases Research Branch, National Institute of Health, Bethesda, MD</json:string></affiliations></json:item><json:item><name>Hiroyo Yoshino BS</name><affiliations><json:string>Research Institute for Disease of Old Ages, Juntendo University School of Medicine</json:string></affiliations></json:item><json:item><name>Hisamasa Imai MD</name><affiliations><json:string>Deparment of Neurology, Tokyo Rinkai Hospital, Tokyo</json:string></affiliations></json:item><json:item><name>Toshiaki Kitami MD</name><affiliations><json:string>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</json:string></affiliations></json:item><json:item><name>Kenichi Sato MD</name><affiliations><json:string>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</json:string></affiliations></json:item><json:item><name>Ryu Kuroda MD</name><affiliations><json:string>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</json:string></affiliations></json:item><json:item><name>Hiroyuki Tomiyama MD</name><affiliations><json:string>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</json:string><json:string>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</json:string></affiliations></json:item><json:item><name>Koichi Mizoguchi MD</name><affiliations><json:string>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</json:string></affiliations></json:item><json:item><name>Miho Murata MD</name><affiliations><json:string>Department of Neurology, Musashi Hospital, National Center of Neurology and Psychiatry, Kodaira</json:string><json:string>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan</json:string></affiliations></json:item><json:item><name>Tatsushi Toda MD</name><affiliations><json:string>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan</json:string><json:string>Division of Functional Genomics, Osaka University Graduate School of Medicine, Suita, Japan</json:string></affiliations></json:item><json:item><name>Issei Imoto MD, PhD</name><affiliations><json:string>Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan</json:string></affiliations></json:item><json:item><name>Johji Inazawa MD, PhD</name><affiliations><json:string>Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan</json:string></affiliations></json:item><json:item><name>Yoshikuni Mizuno MD</name><affiliations><json:string>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</json:string><json:string>Research Institute for Disease of Old Ages, Juntendo University School of Medicine</json:string></affiliations></json:item><json:item><name>Nobutaka Hattori MD, PhD</name><affiliations><json:string>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</json:string><json:string>Research Institute for Disease of Old Ages, Juntendo University School of Medicine</json:string><json:string>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan</json:string></affiliations></json:item></author><articleId><json:string>ANA20753</json:string></articleId><language><json:string>eng</json:string></language><abstract>Objective: Recently, genomic multiplications of α‐synuclein gene (SNCA) have been reported to cause hereditary early‐onset parkinsonism. The objective of this study was to assess the frequency of SNCA multiplications among autosomal dominant hereditary Parkinson's disease (ADPD). Methods: We screened 113 ADPD probands and 200 sporadic PD cases by quantitative polymerase chain reaction and confirmed SNCA multiplications by flurorescence in situ hybridization (FISH) and comparative genomic hybridization array. Results: Two families (two patients from Family A and one from Family B) with SNCA duplication were identified among ADPD patients. Even though they had the same SNCA duplication, one patient had dementia. Because there was exactly the same difference between the regions originated from each patient, the finding suggests that the phenotype of SNCA multiplication may be also influenced by the range of duplication region. We also detected asymptomatic carriers in the families of both patients. Interestingly, the penetrance ratio was 33.3% (2/6) in one kindred, indicating that the ratio was very much lower than expected. Interpretation: These two newly identified Japanese patients with SNCA duplication and the five previously identified American and European families with SNCA triplication or duplication mutations indicate that the incidence of SNCA multiplication may be more frequent than previously estimated. 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Japan</affiliation></author><author><persName><forename type="first">Matthew J.</forename><surname>Farrer</surname></persName><roleName type="degree">PhD</roleName><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</affiliation></author><author><persName><forename type="first">Andrew B.</forename><surname>Singleton</surname></persName><roleName type="degree">PhD</roleName><affiliation>Laboratory of Neurogenetics, National Institute on Aging, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Genetic Diseases Research Branch, National Institute of Health, Bethesda, MD</affiliation></author><author><persName><forename type="first">Hiroyo</forename><surname>Yoshino</surname></persName><roleName type="degree">BS</roleName><affiliation>Research Institute for Disease of Old Ages, Juntendo University School of Medicine</affiliation></author><author><persName><forename type="first">Hisamasa</forename><surname>Imai</surname></persName><roleName type="degree">MD</roleName><affiliation>Deparment of Neurology, Tokyo Rinkai Hospital, Tokyo</affiliation></author><author><persName><forename type="first">Toshiaki</forename><surname>Kitami</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation></author><author><persName><forename type="first">Kenichi</forename><surname>Sato</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation></author><author><persName><forename type="first">Ryu</forename><surname>Kuroda</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</affiliation></author><author><persName><forename type="first">Hiroyuki</forename><surname>Tomiyama</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation><affiliation>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</affiliation></author><author><persName><forename type="first">Koichi</forename><surname>Mizoguchi</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</affiliation></author><author><persName><forename type="first">Miho</forename><surname>Murata</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Musashi Hospital, National Center of Neurology and Psychiatry, Kodaira</affiliation><affiliation>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan</affiliation></author><author><persName><forename type="first">Tatsushi</forename><surname>Toda</surname></persName><roleName type="degree">MD</roleName><affiliation>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan</affiliation><affiliation>Division of Functional Genomics, Osaka University Graduate School of Medicine, Suita, Japan</affiliation></author><author><persName><forename type="first">Issei</forename><surname>Imoto</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan</affiliation></author><author><persName><forename type="first">Johji</forename><surname>Inazawa</surname></persName><roleName type="degree">MD, PhD</roleName><affiliation>Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan</affiliation></author><author><persName><forename type="first">Yoshikuni</forename><surname>Mizuno</surname></persName><roleName type="degree">MD</roleName><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation><affiliation>Research Institute for Disease of Old Ages, Juntendo University School of Medicine</affiliation></author><author><persName><forename type="first">Nobutaka</forename><surname>Hattori</surname></persName><roleName type="degree">MD, PhD</roleName><note type="correspondence"><p>Correspondence: Department of Neurology, Juntendo University School of Medicine, 2‐1‐1 Hongo, Bunkyo, Tokyo 113‐8421, Japan</p></note><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation><affiliation>Research Institute for Disease of Old Ages, Juntendo University School of Medicine</affiliation><affiliation>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan</affiliation></author></analytic><monogr><title level="j">Annals of Neurology</title><title level="j" type="sub">Official Journal of the American Neurological Association and the Child Neurology Society</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>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2006-02"></date><biblScope unit="volume">59</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="298">298</biblScope><biblScope unit="page" to="309">309</biblScope></imprint></monogr><idno type="istex">0613181A8E5F5CBDC24E6162C6BDA3F32A64F97D</idno><idno type="DOI">10.1002/ana.20753</idno><idno type="ArticleID">ANA20753</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2006</date></creation><langUsage><language ident="en">en</language></langUsage><abstract xml:lang="en"><p>Objective: Recently, genomic multiplications of α‐synuclein gene (SNCA) have been reported to cause hereditary early‐onset parkinsonism. The objective of this study was to assess the frequency of SNCA multiplications among autosomal dominant hereditary Parkinson's disease (ADPD). Methods: We screened 113 ADPD probands and 200 sporadic PD cases by quantitative polymerase chain reaction and confirmed SNCA multiplications by flurorescence in situ hybridization (FISH) and comparative genomic hybridization array. Results: Two families (two patients from Family A and one from Family B) with SNCA duplication were identified among ADPD patients. Even though they had the same SNCA duplication, one patient had dementia. Because there was exactly the same difference between the regions originated from each patient, the finding suggests that the phenotype of SNCA multiplication may be also influenced by the range of duplication region. We also detected asymptomatic carriers in the families of both patients. Interestingly, the penetrance ratio was 33.3% (2/6) in one kindred, indicating that the ratio was very much lower than expected. Interpretation: These two newly identified Japanese patients with SNCA duplication and the five previously identified American and European families with SNCA triplication or duplication mutations indicate that the incidence of SNCA multiplication may be more frequent than previously estimated. Ann Neurol 2006</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="2005-08-10">Received</change><change when="2005-10-22">Registration</change><change when="2006-02">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/0613181A8E5F5CBDC24E6162C6BDA3F32A64F97D/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>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi 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" xml:lang="en" sort="ANNALS OF NEUROLOGY">Annals of Neurology</title><title type="subtitle">Official Journal of the American Neurological Association and the Child Neurology Society</title><title type="short">Ann Neurol.</title></titleGroup></publicationMeta><publicationMeta level="part" position="20"><doi origin="wiley" registered="yes">10.1002/ana.v59:2</doi><numberingGroup><numbering type="journalVolume" number="59">59</numbering><numbering type="journalIssue">2</numbering></numberingGroup><coverDate startDate="2006-02">February 2006</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="100" status="forIssue"><doi origin="wiley" registered="yes">10.1002/ana.20753</doi><idGroup><id type="unit" value="ANA20753"></id></idGroup><countGroup><count type="pageTotal" number="12"></count></countGroup><titleGroup><title type="articleCategory">Original Article</title><title type="tocHeading1">Original Articles</title></titleGroup><copyright ownership="thirdParty">Copyright © 2005 American Neurological Association</copyright><eventGroup><event type="manuscriptReceived" date="2005-08-10"></event><event type="manuscriptRevised" date="2005-10-19"></event><event type="manuscriptAccepted" date="2005-10-22"></event><event type="publishedOnlineEarlyUnpaginated" date="2005-12-15"></event><event type="firstOnline" date="2005-12-15"></event><event type="publishedOnlineFinalForm" date="2006-01-25"></event><event type="xmlConverted" agent="Converter:JWSART34_TO_WML3G version:2.3.1 mode:FullText source:FullText result:FullText" date="2010-02-23"></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:4.1.7 mode:FullText,remove_FC" date="2014-10-14"></event></eventGroup><numberingGroup><numbering type="pageFirst">298</numbering><numbering type="pageLast">309</numbering></numberingGroup><correspondenceTo>Department of Neurology, Juntendo University School of Medicine, 2‐1‐1 Hongo, Bunkyo, Tokyo 113‐8421, Japan</correspondenceTo><linkGroup><link type="toTypesetVersion" href="file:ANA.ANA20753.pdf"></link></linkGroup></publicationMeta><contentMeta><countGroup><count type="figureTotal" number="6"></count><count type="tableTotal" number="2"></count><count type="referenceTotal" number="36"></count><count type="wordTotal" number="5517"></count></countGroup><titleGroup><title type="main" xml:lang="en">Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease</title><title type="short" xml:lang="en">α‐Synuclein in AD‐FPD</title></titleGroup><creators><creator xml:id="au1" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Kenya</givenNames><familyName>Nishioka</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au2" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Shin</givenNames><familyName>Hayashi</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au3" creatorRole="author" affiliationRef="#af3"><personName><givenNames>Matthew J.</givenNames><familyName>Farrer</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au4" creatorRole="author" affiliationRef="#af4"><personName><givenNames>Andrew B.</givenNames><familyName>Singleton</familyName><degrees>PhD</degrees></personName></creator><creator xml:id="au5" creatorRole="author" affiliationRef="#af5"><personName><givenNames>Hiroyo</givenNames><familyName>Yoshino</familyName><degrees>BS</degrees></personName></creator><creator xml:id="au6" creatorRole="author" affiliationRef="#af6"><personName><givenNames>Hisamasa</givenNames><familyName>Imai</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au7" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Toshiaki</givenNames><familyName>Kitami</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au8" creatorRole="author" affiliationRef="#af1"><personName><givenNames>Kenichi</givenNames><familyName>Sato</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au9" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Ryu</givenNames><familyName>Kuroda</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au10" creatorRole="author" affiliationRef="#af1 #af7"><personName><givenNames>Hiroyuki</givenNames><familyName>Tomiyama</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au11" creatorRole="author" affiliationRef="#af7"><personName><givenNames>Koichi</givenNames><familyName>Mizoguchi</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au12" creatorRole="author" affiliationRef="#af8 #af9"><personName><givenNames>Miho</givenNames><familyName>Murata</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au13" creatorRole="author" affiliationRef="#af9 #af10"><personName><givenNames>Tatsushi</givenNames><familyName>Toda</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au14" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Issei</givenNames><familyName>Imoto</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au15" creatorRole="author" affiliationRef="#af2"><personName><givenNames>Johji</givenNames><familyName>Inazawa</familyName><degrees>MD, PhD</degrees></personName></creator><creator xml:id="au16" creatorRole="author" affiliationRef="#af1 #af5"><personName><givenNames>Yoshikuni</givenNames><familyName>Mizuno</familyName><degrees>MD</degrees></personName></creator><creator xml:id="au17" creatorRole="author" affiliationRef="#af1 #af5 #af9" corresponding="yes"><personName><givenNames>Nobutaka</givenNames><familyName>Hattori</familyName><degrees>MD, PhD</degrees></personName><contactDetails><email>nhattori@med.juntendo.ac.jp</email></contactDetails></creator></creators><affiliationGroup><affiliation xml:id="af1" countryCode="JP" type="organization"><unparsedAffiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</unparsedAffiliation></affiliation><affiliation xml:id="af2" countryCode="JP" type="organization"><unparsedAffiliation>Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan</unparsedAffiliation></affiliation><affiliation xml:id="af3" countryCode="US" type="organization"><unparsedAffiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</unparsedAffiliation></affiliation><affiliation xml:id="af4" countryCode="US" type="organization"><unparsedAffiliation>Laboratory of Neurogenetics, National Institute on Aging, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Genetic Diseases Research Branch, National Institute of Health, Bethesda, MD</unparsedAffiliation></affiliation><affiliation xml:id="af5" countryCode="US" type="organization"><unparsedAffiliation>Research Institute for Disease of Old Ages, Juntendo University School of Medicine</unparsedAffiliation></affiliation><affiliation xml:id="af6" countryCode="JP" type="organization"><unparsedAffiliation>Deparment of Neurology, Tokyo Rinkai Hospital, Tokyo</unparsedAffiliation></affiliation><affiliation xml:id="af7" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</unparsedAffiliation></affiliation><affiliation xml:id="af8" countryCode="US" type="organization"><unparsedAffiliation>Department of Neurology, Musashi Hospital, National Center of Neurology and Psychiatry, Kodaira</unparsedAffiliation></affiliation><affiliation xml:id="af9" countryCode="US" type="organization"><unparsedAffiliation>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan</unparsedAffiliation></affiliation><affiliation xml:id="af10" countryCode="JP" type="organization"><unparsedAffiliation>Division of Functional Genomics, Osaka University Graduate School of Medicine, Suita, Japan</unparsedAffiliation></affiliation></affiliationGroup><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><section xml:id="abs1-1"><title type="main">Objective</title><p>Recently, genomic multiplications of α‐synuclein gene (<i>SNCA</i>) have been reported to cause hereditary early‐onset parkinsonism. The objective of this study was to assess the frequency of SNCA multiplications among autosomal dominant hereditary Parkinson's disease (ADPD).</p></section><section xml:id="abs1-2"><title type="main">Methods</title><p>We screened 113 ADPD probands and 200 sporadic PD cases by quantitative polymerase chain reaction and confirmed <i>SNCA</i> multiplications by flurorescence in situ hybridization (FISH) and comparative genomic hybridization array.</p></section><section xml:id="abs1-3"><title type="main">Results</title><p>Two families (two patients from Family A and one from Family B) with SNCA duplication were identified among ADPD patients. Even though they had the same <i>SNCA</i> duplication, one patient had dementia. Because there was exactly the same difference between the regions originated from each patient, the finding suggests that the phenotype of <i>SNCA</i> multiplication may be also influenced by the range of duplication region. We also detected asymptomatic carriers in the families of both patients. Interestingly, the penetrance ratio was 33.3% (2/6) in one kindred, indicating that the ratio was very much lower than expected.</p></section><section xml:id="abs1-4"><title type="main">Interpretation</title><p>These two newly identified Japanese patients with <i>SNCA</i> duplication and the five previously identified American and European families with <i>SNCA</i> triplication or duplication mutations indicate that the incidence of <i>SNCA</i> multiplication may be more frequent than previously estimated. Ann Neurol 2006</p></section></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>α‐Synuclein in AD‐FPD</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease</title></titleInfo><name type="personal"><namePart type="given">Kenya</namePart><namePart type="family">Nishioka</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Shin</namePart><namePart type="family">Hayashi</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Matthew J.</namePart><namePart type="family">Farrer</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Department of Neuroscience, Mayo Clinic, Jacksonville, FL</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Andrew B.</namePart><namePart type="family">Singleton</namePart><namePart type="termsOfAddress">PhD</namePart><affiliation>Laboratory of Neurogenetics, National Institute on Aging, Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, Genetic Diseases Research Branch, National Institute of Health, Bethesda, MD</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hiroyo</namePart><namePart type="family">Yoshino</namePart><namePart type="termsOfAddress">BS</namePart><affiliation>Research Institute for Disease of Old Ages, Juntendo University School of Medicine</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hisamasa</namePart><namePart type="family">Imai</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Deparment of Neurology, Tokyo Rinkai Hospital, Tokyo</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Toshiaki</namePart><namePart type="family">Kitami</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kenichi</namePart><namePart type="family">Sato</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Ryu</namePart><namePart type="family">Kuroda</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Hiroyuki</namePart><namePart type="family">Tomiyama</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation><affiliation>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Koichi</namePart><namePart type="family">Mizoguchi</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Miho</namePart><namePart type="family">Murata</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Musashi Hospital, National Center of Neurology and Psychiatry, Kodaira</affiliation><affiliation>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Tatsushi</namePart><namePart type="family">Toda</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan</affiliation><affiliation>Division of Functional Genomics, Osaka University Graduate School of Medicine, Suita, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Issei</namePart><namePart type="family">Imoto</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Johji</namePart><namePart type="family">Inazawa</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yoshikuni</namePart><namePart type="family">Mizuno</namePart><namePart type="termsOfAddress">MD</namePart><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation><affiliation>Research Institute for Disease of Old Ages, Juntendo University School of Medicine</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nobutaka</namePart><namePart type="family">Hattori</namePart><namePart type="termsOfAddress">MD, PhD</namePart><affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan</affiliation><affiliation>Research Institute for Disease of Old Ages, Juntendo University School of Medicine</affiliation><affiliation>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama, Japan</affiliation><description>Correspondence: Department of Neurology, Juntendo University School of Medicine, 2‐1‐1 Hongo, Bunkyo, Tokyo 113‐8421, Japan</description><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2006-02</dateIssued><dateCaptured encoding="w3cdtf">2005-08-10</dateCaptured><dateValid encoding="w3cdtf">2005-10-22</dateValid><copyrightDate encoding="w3cdtf">2006</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="figures">6</extent><extent unit="tables">2</extent><extent unit="references">36</extent><extent unit="words">5517</extent></physicalDescription><abstract lang="en">Objective: Recently, genomic multiplications of α‐synuclein gene (SNCA) have been reported to cause hereditary early‐onset parkinsonism. The objective of this study was to assess the frequency of SNCA multiplications among autosomal dominant hereditary Parkinson's disease (ADPD). Methods: We screened 113 ADPD probands and 200 sporadic PD cases by quantitative polymerase chain reaction and confirmed SNCA multiplications by flurorescence in situ hybridization (FISH) and comparative genomic hybridization array. Results: Two families (two patients from Family A and one from Family B) with SNCA duplication were identified among ADPD patients. Even though they had the same SNCA duplication, one patient had dementia. Because there was exactly the same difference between the regions originated from each patient, the finding suggests that the phenotype of SNCA multiplication may be also influenced by the range of duplication region. We also detected asymptomatic carriers in the families of both patients. Interestingly, the penetrance ratio was 33.3% (2/6) in one kindred, indicating that the ratio was very much lower than expected. Interpretation: These two newly identified Japanese patients with SNCA duplication and the five previously identified American and European families with SNCA triplication or duplication mutations indicate that the incidence of SNCA multiplication may be more frequent than previously estimated. Ann Neurol 2006</abstract><relatedItem type="host"><titleInfo><title>Annals of Neurology</title><subTitle>Official Journal of the American Neurological Association and the Child Neurology Society</subTitle></titleInfo><titleInfo type="abbreviated"><title>Ann Neurol.</title></titleInfo><genre type="Journal">journal</genre><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>2006</date><detail type="volume"><caption>vol.</caption><number>59</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>298</start><end>309</end><total>12</total></extent></part></relatedItem><identifier type="istex">0613181A8E5F5CBDC24E6162C6BDA3F32A64F97D</identifier><identifier type="DOI">10.1002/ana.20753</identifier><identifier type="ArticleID">ANA20753</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2005 American Neurological Association</accessCondition><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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