MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 000B59

Clinical Course of the First Asian Family with Parkinsonism Related to SNCA Triplication

Identifieur interne : 000B59 ( PascalFrancis/Checkpoint ); précédent : 000B58; suivant : 000B60

Clinical 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.

RBID : Pascal:11-0065130

Descripteurs français

Pascal (Inist)
- Parkinsonisme, Maladie de Parkinson, Pathologie du système nerveux, Duplication, Maladie familiale.

English descriptors

KwdEn :
- Duplication, Familial disease, Nervous system diseases, Parkinson disease, Parkinsonism.

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.

Affiliations:

Japon
Tokyo

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Pascal:11-0065130

Le document en format XML

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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>
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<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>

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   |texte=   Clinical Course of the First Asian Family with Parkinsonism Related to SNCA Triplication
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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

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