MovDisordV3, Main, Exploration, bibRecord, 001D95

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

Identifieur interne : 001D95 ( Main/Exploration ); précédent : 001D94; suivant : 001D96

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 ] ; 2010-12-15.

RBID : ISTEX:9810DFD63642D9AC7C5E6948BE51883F6E605E90

Descripteurs français

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

English descriptors

KwdEn :
- Adult, Alleles, Asian Continental Ancestry Group (genetics), Disease Progression, Duplication, Familial disease, Gene Dosage, Humans, Male, Middle Aged, Nervous system diseases, Parkinson Disease (genetics), Parkinson disease, Parkinsonism, Pedigree, SNCA, alpha-Synuclein (genetics), duplication, familial Parkinson's disease, triplication.
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. © 2010 Movement Disorder Society

Url:

https://api.istex.fr/document/9810DFD63642D9AC7C5E6948BE51883F6E605E90/fulltext/pdf

DOI: 10.1002/mds.23313

Affiliations:

Japon
Tokyo

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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 :

Descripteurs français

English descriptors

Abstract

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

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

	Movement Disorders (revue)
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