MovDisordV3, PubMed, Checkpoint, bibRecord, 001985

Clinical course of the first Asian family with Parkinsonism related to SNCA triplication.

Identifieur interne : 001985 ( PubMed/Checkpoint ); précédent : 001984; suivant : 001986

Clinical course of the first Asian family with Parkinsonism related to SNCA triplication.

Auteurs : Takeshi Sekine [Japon] ; Hajime Kagaya ; Manabu Funayama ; Yuanzhe Li ; Hiroyo Yoshino ; Hiroyuki Tomiyama ; Nobutaka Hattori

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.

RBID : pubmed:20818659

English descriptors

KwdEn :
- Adult, Alleles, Asian Continental Ancestry Group (genetics), Disease Progression, Gene Dosage, Humans, Male, Middle Aged, Parkinson Disease (genetics), Pedigree, alpha-Synuclein (genetics).
MESH :
- chemical , genetics : alpha-Synuclein.
- genetics : Asian Continental Ancestry Group, Parkinson Disease.
- Adult, Alleles, Disease Progression, Gene Dosage, Humans, Male, Middle Aged, Pedigree.

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.

DOI: 10.1002/mds.23313
PubMed: 20818659

Affiliations:

Japon
Tokyo

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Le document en format XML

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<author><name sortKey="Sekine, Takeshi" sort="Sekine, Takeshi" uniqKey="Sekine T" first="Takeshi" last="Sekine">Takeshi Sekine</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Neurology, Juntendo University School of Medicine, Tokyo, Japan.</nlm:affiliation>
<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>
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<author><name sortKey="Kagaya, Hajime" sort="Kagaya, Hajime" uniqKey="Kagaya H" first="Hajime" last="Kagaya">Hajime Kagaya</name>
</author>
<author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
</author>
<author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name>
</author>
<author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name>
</author>
<author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name>
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<author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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<author><name sortKey="Kagaya, Hajime" sort="Kagaya, Hajime" uniqKey="Kagaya H" first="Hajime" last="Kagaya">Hajime Kagaya</name>
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<author><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
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<author><name sortKey="Li, Yuanzhe" sort="Li, Yuanzhe" uniqKey="Li Y" first="Yuanzhe" last="Li">Yuanzhe Li</name>
</author>
<author><name sortKey="Yoshino, Hiroyo" sort="Yoshino, Hiroyo" uniqKey="Yoshino H" first="Hiroyo" last="Yoshino">Hiroyo Yoshino</name>
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<author><name sortKey="Tomiyama, Hiroyuki" sort="Tomiyama, Hiroyuki" uniqKey="Tomiyama H" first="Hiroyuki" last="Tomiyama">Hiroyuki Tomiyama</name>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Gene Dosage</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Parkinson Disease (genetics)</term>
<term>Pedigree</term>
<term>alpha-Synuclein (genetics)</term>
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<term>Parkinson Disease</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Alleles</term>
<term>Disease Progression</term>
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<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>
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<Title>Movement disorders : official journal of the Movement Disorder Society</Title>
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<ArticleTitle>Clinical course of the first Asian family with Parkinsonism related to SNCA triplication.</ArticleTitle>
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<Abstract><AbstractText>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.</AbstractText>
<CopyrightInformation>© 2010 Movement Disorder Society.</CopyrightInformation>
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<AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Sekine</LastName>
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<tree><noCountry><name sortKey="Funayama, Manabu" sort="Funayama, Manabu" uniqKey="Funayama M" first="Manabu" last="Funayama">Manabu Funayama</name>
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<name sortKey="Kagaya, Hajime" sort="Kagaya, Hajime" uniqKey="Kagaya H" first="Hajime" last="Kagaya">Hajime Kagaya</name>
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<country name="Japon"><noRegion><name sortKey="Sekine, Takeshi" sort="Sekine, Takeshi" uniqKey="Sekine T" first="Takeshi" last="Sekine">Takeshi Sekine</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Clinical course of the first Asian family with Parkinsonism related to SNCA triplication.

Clinical course of the first Asian family with Parkinsonism related to SNCA triplication.

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki