MovDisordV3, Main, Exploration, bibRecord, 003292

Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the basques

Identifieur interne : 003292 ( Main/Exploration ); précédent : 003291; suivant : 003293

Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the basques

Auteurs : Javier Sim N-Sánchez [Espagne] ; José-Félix Martí-Mass [Espagne] ; José Vicente Sánchez-Mut [Espagne] ; Coro Paisán-Ruiz [États-Unis] ; Angel Martínez-Gil [Espagne] ; Javier Ruiz-Martínez [Espagne] ; Amets Sáenz [Espagne] ; Andrew B. Singleton [États-Unis] ; Adolfo L Pez De Munain [Espagne] ; Jordi Pérez-Tur [Espagne]

Source :

Movement Disorders [ 0885-3185 ] ; 2006-11.

RBID : ISTEX:47F64B595DB88EBD1D11014B776E48E2E1A12B34

Descripteurs français

Wicri :
- geographic : Espagne.
- topic : Pays basque.

English descriptors

KwdEn :
- Aged, Arginine (genetics), Basque Country, Chromosomes, Human, Pair 12, DNA Mutational Analysis, Dardarin, Demography, Family Health, Female, Glycine (genetics), Humans, LRRK2, Male, Middle Aged, Parkinson Disease (epidemiology), Parkinson Disease (genetics), Parkinson's disease, Polymorphism, Single Nucleotide, Protein-Serine-Threonine Kinases (genetics), Spain (epidemiology), Spain (ethnology), founder effect.
MESH :
- chemical , genetics : Arginine, Glycine, Protein-Serine-Threonine Kinases.
- geographic , epidemiology : Spain.
- geographic , ethnology : Spain.
- epidemiology : Parkinson Disease.
- genetics : Parkinson Disease.
- Aged, Chromosomes, Human, Pair 12, DNA Mutational Analysis, Demography, Family Health, Female, Humans, Male, Middle Aged, Polymorphism, Single Nucleotide.

Abstract

The recent discovery of mutations in Dardarin (LRRK2) have been related to the appearance of Parkinson's disease in several families. Notably, one single mutation in this gene (R1441G) not only appeared in familial, but also in apparently sporadic Parkinson disease (PD) patients of Basque descent. A clinical population was ascertained, and subjects were classified into Basque and non‐Basque descent according to their known ancestry. The R1441G mutation was assayed using an allele‐specific polymerase chain reaction, and several single nucleotide polymorphisms surrounding this mutation were analyzed by direct sequencing. In addition to 22 members of the original Basque families where R1441G was identified, we observed 17 carriers of the mutation who were apparently related through a common ancestor. From a clinical perspective, the disease observed in mutation carriers is indistinguishable from that in noncarriers. The R1441G mutation causes a form of Parkinson's disease that is equivalent to that observed in idiopathic Parkinson's disease. This mutation appears in 16.4% and 4.0% of familial and sporadic PD in this Basque population, respectively. © 2006 Movement Disorder Society

Url:

https://api.istex.fr/document/47F64B595DB88EBD1D11014B776E48E2E1A12B34/fulltext/pdf

DOI: 10.1002/mds.21114

Affiliations:

Le document en format XML

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<author><name sortKey="Sim N Nchez, Javier" sort="Sim N Nchez, Javier" uniqKey="Sim N Nchez J" first="Javier" last="Sim N-Sánchez">Javier Sim N-Sánchez</name>
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<author><name sortKey="Marti Ass, Jose Elix" sort="Marti Ass, Jose Elix" uniqKey="Marti Ass J" first="José-Félix" last="Martí-Mass">José-Félix Martí-Mass</name>
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<author><name sortKey="Sanchez Ut, Jose Vicente" sort="Sanchez Ut, Jose Vicente" uniqKey="Sanchez Ut J" first="José Vicente" last="Sánchez-Mut">José Vicente Sánchez-Mut</name>
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<author><name sortKey="Paisan Uiz, Coro" sort="Paisan Uiz, Coro" uniqKey="Paisan Uiz C" first="Coro" last="Paisán-Ruiz">Coro Paisán-Ruiz</name>
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<author><name sortKey="Martinez Il, Angel" sort="Martinez Il, Angel" uniqKey="Martinez Il A" first="Angel" last="Martínez-Gil">Angel Martínez-Gil</name>
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<author><name sortKey="Ruiz Artinez, Javier" sort="Ruiz Artinez, Javier" uniqKey="Ruiz Artinez J" first="Javier" last="Ruiz-Martínez">Javier Ruiz-Martínez</name>
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<author><name sortKey="Saenz, Amets" sort="Saenz, Amets" uniqKey="Saenz A" first="Amets" last="Sáenz">Amets Sáenz</name>
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<author><name sortKey="Singleton, Andrew B" sort="Singleton, Andrew B" uniqKey="Singleton A" first="Andrew B." last="Singleton">Andrew B. Singleton</name>
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<author><name sortKey="L Pez De Munain, Adolfo" sort="L Pez De Munain, Adolfo" uniqKey="L Pez De Munain A" first="Adolfo" last="L Pez De Munain">Adolfo L Pez De Munain</name>
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<author><name sortKey="Perez Ur, Jordi" sort="Perez Ur, Jordi" uniqKey="Perez Ur J" first="Jordi" last="Pérez-Tur">Jordi Pérez-Tur</name>
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<author><name sortKey="Marti Ass, Jose Elix" sort="Marti Ass, Jose Elix" uniqKey="Marti Ass J" first="José-Félix" last="Martí-Mass">José-Félix Martí-Mass</name>
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<author><name sortKey="Paisan Uiz, Coro" sort="Paisan Uiz, Coro" uniqKey="Paisan Uiz C" first="Coro" last="Paisán-Ruiz">Coro Paisán-Ruiz</name>
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<wicri:regionArea>Current Address: Servicio de Neurología, Hospital San Millán, Logroño</wicri:regionArea>
<wicri:noRegion>Logroño</wicri:noRegion>
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<author><name sortKey="Ruiz Artinez, Javier" sort="Ruiz Artinez, Javier" uniqKey="Ruiz Artinez J" first="Javier" last="Ruiz-Martínez">Javier Ruiz-Martínez</name>
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<term>DNA Mutational Analysis</term>
<term>Dardarin</term>
<term>Demography</term>
<term>Family Health</term>
<term>Female</term>
<term>Glycine (genetics)</term>
<term>Humans</term>
<term>LRRK2</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Parkinson Disease (epidemiology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson's disease</term>
<term>Polymorphism, Single Nucleotide</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Spain (epidemiology)</term>
<term>Spain (ethnology)</term>
<term>founder effect</term>
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<term>Glycine</term>
<term>Protein-Serine-Threonine Kinases</term>
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<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term>
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<term>Chromosomes, Human, Pair 12</term>
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<term>Demography</term>
<term>Family Health</term>
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<front><div type="abstract" xml:lang="en">The recent discovery of mutations in Dardarin (LRRK2) have been related to the appearance of Parkinson's disease in several families. Notably, one single mutation in this gene (R1441G) not only appeared in familial, but also in apparently sporadic Parkinson disease (PD) patients of Basque descent. A clinical population was ascertained, and subjects were classified into Basque and non‐Basque descent according to their known ancestry. The R1441G mutation was assayed using an allele‐specific polymerase chain reaction, and several single nucleotide polymorphisms surrounding this mutation were analyzed by direct sequencing. In addition to 22 members of the original Basque families where R1441G was identified, we observed 17 carriers of the mutation who were apparently related through a common ancestor. From a clinical perspective, the disease observed in mutation carriers is indistinguishable from that in noncarriers. The R1441G mutation causes a form of Parkinson's disease that is equivalent to that observed in idiopathic Parkinson's disease. This mutation appears in 16.4% and 4.0% of familial and sporadic PD in this Basque population, respectively. © 2006 Movement Disorder Society</div>
</front>
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<name sortKey="Sanchez Ut, Jose Vicente" sort="Sanchez Ut, Jose Vicente" uniqKey="Sanchez Ut J" first="José Vicente" last="Sánchez-Mut">José Vicente Sánchez-Mut</name>
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Movement Disorders (revue)

Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the basques

Parkinson's disease due to the R1441G mutation in Dardarin: A founder effect in the basques

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)
	Attention, ce site est en cours de développement ! Attention, site généré par des moyens informatiques à partir de corpus bruts. Les informations ne sont donc pas validées.