Clinical Course of the First Asian Family with Parkinsonism Related to SNCA Triplication
Identifieur interne : 002746 ( Main/Merge ); précédent : 002745; suivant : 002747Clinical Course of the First Asian Family with Parkinsonism Related to SNCA Triplication
Auteurs : Takeshi Sekine [Japon] ; Hajime Kagaya [Japon] ; Manabu Funayama [Japon] ; YUANZHE LI [Japon] ; Hiroyo Yoshino [Japon] ; Hiroyuki Tomiyama [Japon] ; Nobutaka Hattori [Japon]Source :
- Movement disorders [ 0885-3185 ] ; 2010.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
Triplication of SNCA is a rare cause of familial Parkinson's disease compared with duplication. Its clinical course is believed to be more robust than duplication, though it is uncertain. Marked as the first among the Asian population, we identified a Japanese family (paternal grandfather, father, and son) with SNCA triplication based on genetic and clinical analyses. The proband had a completely triplicated region including SNCA. This allele did not share any common haplotypes with those of previously reported Japanese families with SNCA duplication. Clinical analysis indicated early onset, rapidly progressive parkinsonism with mild levodopa response. Further studies are needed to clarify the gene dose effect of SNCA.
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Clinical Course of the First Asian Family with Parkinsonism Related to SNCA Triplication</title><author><name sortKey="Sekine, Takeshi" sort="Sekine, Takeshi" uniqKey="Sekine T" first="Takeshi" last="Sekine">Takeshi Sekine</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Kagaya, Hajime" sort="Kagaya, Hajime" uniqKey="Kagaya H" first="Hajime" last="Kagaya">Hajime Kagaya</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Nakadori General Hospital</s1><s2>Akita</s2><s3>JPN</s3><sZ>2 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uniqKey="Sekine T" first="Takeshi" last="Sekine">Takeshi Sekine</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Kagaya, Hajime" sort="Kagaya, Hajime" uniqKey="Kagaya H" first="Hajime" last="Kagaya">Hajime Kagaya</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Nakadori General Hospital</s1><s2>Akita</s2><s3>JPN</s3><sZ>2 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Akita</wicri:noRegion></affiliation></author><author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Yuanzhe Li" sort="Yuanzhe Li" uniqKey="Yuanzhe Li" last="Yuanzhe Li">YUANZHE LI</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Neurology, Juntendo University School of Medicine</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>1 aut.</sZ><sZ>3 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Research Institute for Diseases of Old Age, Graduate School of Medicine, Juntendo University</s1><s2>Tokyo</s2><s3>JPN</s3><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>7 aut.</sZ></inist:fA14><country>Japon</country><placeName><settlement type="city">Tokyo</settlement></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Duplication</term><term>Familial disease</term><term>Nervous system diseases</term><term>Parkinson disease</term><term>Parkinsonism</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Parkinsonisme</term><term>Maladie de Parkinson</term><term>Pathologie du système nerveux</term><term>Duplication</term><term>Maladie familiale</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Triplication of SNCA is a rare cause of familial Parkinson's disease compared with duplication. Its clinical course is believed to be more robust than duplication, though it is uncertain. Marked as the first among the Asian population, we identified a Japanese family (paternal grandfather, father, and son) with SNCA triplication based on genetic and clinical analyses. The proband had a completely triplicated region including SNCA. This allele did not share any common haplotypes with those of previously reported Japanese families with SNCA duplication. Clinical analysis indicated early onset, rapidly progressive parkinsonism with mild levodopa response. Further studies are needed to clarify the gene dose effect of SNCA.</div></front></TEI><affiliations><list><country><li>Japon</li></country><settlement><li>Tokyo</li></settlement></list><tree><country name="Japon"><noRegion><name sortKey="Sekine, Takeshi" sort="Sekine, Takeshi" uniqKey="Sekine T" first="Takeshi" last="Sekine">Takeshi Sekine</name></noRegion><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name><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="Kagaya, Hajime" sort="Kagaya, Hajime" uniqKey="Kagaya H" first="Hajime" last="Kagaya">Hajime Kagaya</name><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name><name sortKey="Yuanzhe Li" sort="Yuanzhe Li" uniqKey="Yuanzhe Li" last="Yuanzhe Li">YUANZHE LI</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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