MovDisordV3, Main, Exploration, bibRecord, 003366

Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease

Identifieur interne : 003366 ( Main/Exploration ); précédent : 003365; suivant : 003367

Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease

Auteurs : Hon-Chung Fung [États-Unis, Royaume-Uni, Taïwan] ; Chiung-Mei Chen [Taïwan] ; John Hardy [États-Unis, Royaume-Uni] ; Dena Hernandez [États-Unis] ; Andrew Singleton [États-Unis] ; Yih-Ru Wu [Taïwan]

Source :

Movement Disorders [ 0885-3185 ] ; 2006-06-06.

RBID : ISTEX:FCA97266CE677EDAE1FB3991DFC34BDFF0F0AF2A

Descripteurs français

Pascal (Inist)
- Mutation, Parkinson maladie, Sporadique, Système nerveux pathologie, Taiwan.
Wicri :
- geographic : Taïwan.

English descriptors

KwdEn :
- Adult, Aged, Aged, 80 and over, Amino Acid Substitution, Female, Founder Effect, Gene Frequency, Humans, LRRK2, Male, Middle Aged, Mutation, Nervous system diseases, Parkinson Disease (genetics), Parkinson disease, Parkinson's disease, Protein-Serine-Threonine Kinases (genetics), Sporadic, Taiwan, mutation.
MESH :
- chemical , genetics : Protein-Serine-Threonine Kinases.
- geographic : Taiwan.
- genetics : Parkinson Disease.
- Adult, Aged, Aged, 80 and over, Amino Acid Substitution, Female, Founder Effect, Gene Frequency, Humans, Male, Middle Aged, Mutation.

Abstract

Mutations in the leucine‐rich repeat kinase 2 (LRRK2) gene have been shown to cause autosomal dominant and sporadic Parkinson's disease (PD). We report here the frequency of a common heterozygous mutation, 2877510G>A, which produces a glycine‐to‐serine amino acid substitution at codon 2019 in idiopathic Taiwanese PD. The extreme rarity of the G2019S mutation in our population suggests the occurrence of this mutation resulted from a common European founder. © 2006 Movement Disorder Society

Url:

https://api.istex.fr/document/FCA97266CE677EDAE1FB3991DFC34BDFF0F0AF2A/fulltext/pdf

DOI: 10.1002/mds.20814

Affiliations:

Le document en format XML

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<author><name sortKey="Hardy, John" sort="Hardy, John" uniqKey="Hardy J" first="John" last="Hardy">John Hardy</name>
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<author><name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name>
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<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
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<term>Founder Effect</term>
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<term>Aged</term>
<term>Aged, 80 and over</term>
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<term>Founder Effect</term>
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<front><div type="abstract" xml:lang="en">Mutations in the leucine‐rich repeat kinase 2 (LRRK2) gene have been shown to cause autosomal dominant and sporadic Parkinson's disease (PD). We report here the frequency of a common heterozygous mutation, 2877510G>A, which produces a glycine‐to‐serine amino acid substitution at codon 2019 in idiopathic Taiwanese PD. The extreme rarity of the G2019S mutation in our population suggests the occurrence of this mutation resulted from a common European founder. © 2006 Movement Disorder Society</div>
</front>
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Movement Disorders (revue)

Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease

Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease

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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