Clinical course of the first Asian family with Parkinsonism related to SNCA triplication.
Identifieur interne : 001985 ( PubMed/Checkpoint ); précédent : 001984; suivant : 001986Clinical 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 HattoriSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2010.
English descriptors
- KwdEn :
- 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:
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pubmed:20818659Le document en format XML
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<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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<term>Humans</term>
<term>Male</term>
<term>Middle Aged</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>
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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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