Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease
Identifieur interne : 001338 ( Main/Exploration ); précédent : 001337; suivant : 001339Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease
Auteurs : Kenya Nishioka [Japon] ; Shin Hayashi [Japon] ; Matthew J. Farrer [États-Unis] ; Andrew B. Singleton [États-Unis] ; Hiroyo Yoshino ; Hisamasa Imai [Japon] ; Toshiaki Kitami [Japon] ; Kenichi Sato [Japon] ; Ryu Kuroda ; Hiroyuki Tomiyama [Japon] ; Koichi Mizoguchi ; Miho Murata [Japon] ; Tatsushi Toda [Japon] ; Issei Imoto [Japon] ; Johji Inazawa [Japon] ; Yoshikuni Mizuno [Japon] ; Nobutaka Hattori [Japon]Source :
- 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
Url:
DOI: 10.1002/ana.20753
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title 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></author><author><name sortKey="Hayashi, Shin" sort="Hayashi, Shin" uniqKey="Hayashi S" first="Shin" last="Hayashi">Shin Hayashi</name></author><author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name></author><author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name></author><author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name></author><author><name sortKey="Imai, Hisamasa" sort="Imai, Hisamasa" uniqKey="Imai H" first="Hisamasa" last="Imai">Hisamasa Imai</name></author><author><name sortKey="Kitami, Toshiaki" sort="Kitami, Toshiaki" uniqKey="Kitami T" first="Toshiaki" last="Kitami">Toshiaki Kitami</name></author><author><name sortKey="Sato, Kenichi" sort="Sato, Kenichi" uniqKey="Sato K" first="Kenichi" last="Sato">Kenichi Sato</name></author><author><name sortKey="Kuroda, Ryu" sort="Kuroda, Ryu" uniqKey="Kuroda R" first="Ryu" last="Kuroda">Ryu Kuroda</name></author><author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name></author><author><name sortKey="Mizoguchi, Koichi" sort="Mizoguchi, Koichi" uniqKey="Mizoguchi K" first="Koichi" last="Mizoguchi">Koichi Mizoguchi</name></author><author><name sortKey="Murata, Miho" sort="Murata, Miho" uniqKey="Murata M" first="Miho" last="Murata">Miho Murata</name></author><author><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name></author><author><name sortKey="Imoto, Issei" sort="Imoto, Issei" uniqKey="Imoto I" first="Issei" last="Imoto">Issei Imoto</name></author><author><name sortKey="Inazawa, Johji" sort="Inazawa, Johji" uniqKey="Inazawa J" first="Johji" last="Inazawa">Johji Inazawa</name></author><author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name></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><idno type="wicri:Area/Main/Curation">000E05</idno><idno type="wicri:Area/Main/Exploration">001338</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 wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Hayashi, Shin" sort="Hayashi, Shin" uniqKey="Hayashi S" first="Shin" last="Hayashi">Shin Hayashi</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Floride</region></placeName><wicri:cityArea>Department of Neuroscience, Mayo Clinic, Jacksonville</wicri:cityArea></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 wicri:level="2"><country xml:lang="fr">États-Unis</country><placeName><region type="state">Maryland</region></placeName><wicri:cityArea>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</wicri:cityArea></affiliation></author><author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name><affiliation><wicri:noCountry code="subField">Juntendo University School of Medicine</wicri:noCountry></affiliation></author><author><name sortKey="Imai, Hisamasa" sort="Imai, Hisamasa" uniqKey="Imai H" first="Hisamasa" last="Imai">Hisamasa Imai</name><affiliation wicri:level="3"><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName><wicri:orgArea>Deparment of Neurology, Tokyo Rinkai Hospital</wicri:orgArea></affiliation></author><author><name sortKey="Kitami, Toshiaki" sort="Kitami, Toshiaki" uniqKey="Kitami T" first="Toshiaki" last="Kitami">Toshiaki Kitami</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Sato, Kenichi" sort="Sato, Kenichi" uniqKey="Sato K" first="Kenichi" last="Sato">Kenichi Sato</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Kuroda, Ryu" sort="Kuroda, Ryu" uniqKey="Kuroda R" first="Ryu" last="Kuroda">Ryu Kuroda</name><affiliation><wicri:noCountry code="subField">Shizuoka</wicri:noCountry></affiliation></author><author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation><affiliation><wicri:noCountry code="subField">Shizuoka</wicri:noCountry></affiliation></author><author><name sortKey="Mizoguchi, Koichi" sort="Mizoguchi, Koichi" uniqKey="Mizoguchi K" first="Koichi" last="Mizoguchi">Koichi Mizoguchi</name><affiliation><wicri:noCountry code="subField">Shizuoka</wicri:noCountry></affiliation></author><author><name sortKey="Murata, Miho" sort="Murata, Miho" uniqKey="Murata M" first="Miho" last="Murata">Miho Murata</name><affiliation><wicri:noCountry code="subField">Kodaira</wicri:noCountry></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama</wicri:regionArea><wicri:noRegion>Saitama</wicri:noRegion></affiliation></author><author><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama</wicri:regionArea><wicri:noRegion>Saitama</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Division of Functional Genomics, Osaka University Graduate School of Medicine, Suita</wicri:regionArea><wicri:noRegion>Suita</wicri:noRegion></affiliation></author><author><name sortKey="Imoto, Issei" sort="Imoto, Issei" uniqKey="Imoto I" first="Issei" last="Imoto">Issei Imoto</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Inazawa, Johji" sort="Inazawa, Johji" uniqKey="Inazawa J" first="Johji" last="Inazawa">Johji Inazawa</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation><affiliation><wicri:noCountry code="subField">Juntendo University School of Medicine</wicri:noCountry></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation wicri:level="3"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Neurology, Juntendo University School of Medicine, Tokyo</wicri:regionArea><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation><affiliation><wicri:noCountry code="subField">Juntendo University School of Medicine</wicri:noCountry></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>CREST, Japan Science and Technology Corporation, Kawaguchi, Saitama</wicri:regionArea><wicri:noRegion>Saitama</wicri:noRegion></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><affiliations><list><country><li>Japon</li><li>États-Unis</li></country><region><li>Floride</li><li>Maryland</li></region><settlement><li>Tokyo</li></settlement></list><tree><noCountry><name sortKey="Kuroda, Ryu" sort="Kuroda, Ryu" uniqKey="Kuroda R" first="Ryu" last="Kuroda">Ryu Kuroda</name><name sortKey="Mizoguchi, Koichi" sort="Mizoguchi, Koichi" uniqKey="Mizoguchi K" first="Koichi" last="Mizoguchi">Koichi Mizoguchi</name><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name></noCountry><country name="Japon"><noRegion><name sortKey="Nishioka, Kenya" sort="Nishioka, Kenya" uniqKey="Nishioka K" first="Kenya" last="Nishioka">Kenya Nishioka</name></noRegion><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><name sortKey="Hayashi, Shin" sort="Hayashi, Shin" uniqKey="Hayashi S" first="Shin" last="Hayashi">Shin Hayashi</name><name sortKey="Imai, Hisamasa" sort="Imai, Hisamasa" uniqKey="Imai H" first="Hisamasa" last="Imai">Hisamasa Imai</name><name sortKey="Imoto, Issei" sort="Imoto, Issei" uniqKey="Imoto I" first="Issei" last="Imoto">Issei Imoto</name><name sortKey="Inazawa, Johji" sort="Inazawa, Johji" uniqKey="Inazawa J" first="Johji" last="Inazawa">Johji Inazawa</name><name sortKey="Kitami, Toshiaki" sort="Kitami, Toshiaki" uniqKey="Kitami T" first="Toshiaki" last="Kitami">Toshiaki Kitami</name><name sortKey="Mizuno, Yoshikuni" sort="Mizuno, Yoshikuni" uniqKey="Mizuno Y" first="Yoshikuni" last="Mizuno">Yoshikuni Mizuno</name><name sortKey="Murata, Miho" sort="Murata, Miho" uniqKey="Murata M" first="Miho" last="Murata">Miho Murata</name><name sortKey="Sato, Kenichi" sort="Sato, Kenichi" uniqKey="Sato K" first="Kenichi" last="Sato">Kenichi Sato</name><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name><name sortKey="Toda, Tatsushi" sort="Toda, Tatsushi" uniqKey="Toda T" first="Tatsushi" last="Toda">Tatsushi Toda</name><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name></country><country name="États-Unis"><region name="Floride"><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name></region><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001338 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001338 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= ISTEX:0613181A8E5F5CBDC24E6162C6BDA3F32A64F97D
|texte= Clinical heterogeneity of α‐synuclein gene duplication in Parkinson's disease
}}
| This area was generated with Dilib version V0.6.23. |  |