JankovicV1, PubMed, Corpus, bibRecord, 000173

Genetic analysis of LRRK2 mutations in patients with Parkinson disease.

Identifieur interne : 000173 ( PubMed/Corpus ); précédent : 000172; suivant : 000174

Genetic analysis of LRRK2 mutations in patients with Parkinson disease.

Auteurs : Hao Deng ; Weidong Le ; Yi Guo ; Christine. Hunter ; Wenjie Xie ; Maosheng Huang ; Joseph Jankovic

Source :

Journal of the neurological sciences [ 0022-510X ] ; 2006.

RBID : pubmed:17097110

English descriptors

KwdEn :
- Adult, Aged, Arginine (genetics), Chromosomes, Human, Pair 12, DNA Mutational Analysis (methods), Female, Glycine (genetics), Humans, Male, Middle Aged, Mutation (genetics), Parkinson Disease (epidemiology), Parkinson Disease (ethnology), Parkinson Disease (genetics), Protein-Serine-Threonine Kinases (genetics), Serine (genetics).
MESH :
- chemical , genetics : Arginine, Glycine, Protein-Serine-Threonine Kinases, Serine.
- epidemiology : Parkinson Disease.
- ethnology : Parkinson Disease.
- genetics : Mutation, Parkinson Disease.
- methods : DNA Mutational Analysis.
- Adult, Aged, Chromosomes, Human, Pair 12, Female, Humans, Male, Middle Aged.

Abstract

In addition to the G2019S mutation in the leucine-rich repeat kinase 2 gene (LRRK2), which is particularly frequent in patients of Ashkenazi Jewish and Northern African origin, three amino acid substitutions (R1441C, R1441G, and R1441H), all at the same residue (R1441), have been identified as important genetic causes of Parkinson disease (PD). To evaluate the frequency of R1441C/G/H and G2019S mutations in the LRRK2 gene in North American patients with PD and to explore genotype-phenotype correlations, we screened 496 PD patients from North America. One Hispanic female was heterozygous for the LRRK2 R1441G mutation, and six other cases including 2 non-Jewish/non-Hispanic whites, 3 Ashkenazi Jewish, and 1 Hispanic, were found to be heterozygous for the LRRK2 G2019S mutation. G2019S mutation in the LRRK2 gene is a common mutation associated with PD in a North American population, especially in Jewish PD patients (10.7%), while the R1441C/G/H mutation occurs at a relatively low frequency in North Americans except possibly in Hispanics for R1441G. All six G2019S carriers shared a common haplotype with that observed in Europeans and North Africans. The clinical features of all seven cases with LRRK2 mutation were quite broad and included early and late disease onset. These finding may provide new insights into the cause and diagnosis of PD and have implications for genetic counseling.

DOI: 10.1016/j.jns.2006.09.017
PubMed: 17097110

Links to Exploration step

pubmed:17097110

Le document en format XML

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<author><name sortKey="Deng, Hao" sort="Deng, Hao" uniqKey="Deng H" first="Hao" last="Deng">Hao Deng</name>
<affiliation><nlm:affiliation>Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation>
</affiliation>
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<author><name sortKey="Le, Weidong" sort="Le, Weidong" uniqKey="Le W" first="Weidong" last="Le">Weidong Le</name>
</author>
<author><name sortKey="Guo, Yi" sort="Guo, Yi" uniqKey="Guo Y" first="Yi" last="Guo">Yi Guo</name>
</author>
<author><name sortKey="Hunter, Christine B" sort="Hunter, Christine B" uniqKey="Hunter C" first="Christine" last="Hunter">Christine. Hunter</name>
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<author><name sortKey="Xie, Wenjie" sort="Xie, Wenjie" uniqKey="Xie W" first="Wenjie" last="Xie">Wenjie Xie</name>
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<author><name sortKey="Huang, Maosheng" sort="Huang, Maosheng" uniqKey="Huang M" first="Maosheng" last="Huang">Maosheng Huang</name>
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<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Genetic analysis of LRRK2 mutations in patients with Parkinson disease.</title>
<author><name sortKey="Deng, Hao" sort="Deng, Hao" uniqKey="Deng H" first="Hao" last="Deng">Hao Deng</name>
<affiliation><nlm:affiliation>Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA.</nlm:affiliation>
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<author><name sortKey="Hunter, Christine B" sort="Hunter, Christine B" uniqKey="Hunter C" first="Christine" last="Hunter">Christine. Hunter</name>
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<author><name sortKey="Xie, Wenjie" sort="Xie, Wenjie" uniqKey="Xie W" first="Wenjie" last="Xie">Wenjie Xie</name>
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<author><name sortKey="Huang, Maosheng" sort="Huang, Maosheng" uniqKey="Huang M" first="Maosheng" last="Huang">Maosheng Huang</name>
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<author><name sortKey="Jankovic, Joseph" sort="Jankovic, Joseph" uniqKey="Jankovic J" first="Joseph" last="Jankovic">Joseph Jankovic</name>
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<term>DNA Mutational Analysis (methods)</term>
<term>Female</term>
<term>Glycine (genetics)</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mutation (genetics)</term>
<term>Parkinson Disease (epidemiology)</term>
<term>Parkinson Disease (ethnology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Serine (genetics)</term>
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<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Arginine</term>
<term>Glycine</term>
<term>Protein-Serine-Threonine Kinases</term>
<term>Serine</term>
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<keywords scheme="MESH" qualifier="epidemiology" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="ethnology" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term>
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<keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term>
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<keywords scheme="MESH" xml:lang="en"><term>Adult</term>
<term>Aged</term>
<term>Chromosomes, Human, Pair 12</term>
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<front><div type="abstract" xml:lang="en">In addition to the G2019S mutation in the leucine-rich repeat kinase 2 gene (LRRK2), which is particularly frequent in patients of Ashkenazi Jewish and Northern African origin, three amino acid substitutions (R1441C, R1441G, and R1441H), all at the same residue (R1441), have been identified as important genetic causes of Parkinson disease (PD). To evaluate the frequency of R1441C/G/H and G2019S mutations in the LRRK2 gene in North American patients with PD and to explore genotype-phenotype correlations, we screened 496 PD patients from North America. One Hispanic female was heterozygous for the LRRK2 R1441G mutation, and six other cases including 2 non-Jewish/non-Hispanic whites, 3 Ashkenazi Jewish, and 1 Hispanic, were found to be heterozygous for the LRRK2 G2019S mutation. G2019S mutation in the LRRK2 gene is a common mutation associated with PD in a North American population, especially in Jewish PD patients (10.7%), while the R1441C/G/H mutation occurs at a relatively low frequency in North Americans except possibly in Hispanics for R1441G. All six G2019S carriers shared a common haplotype with that observed in Europeans and North Africans. The clinical features of all seven cases with LRRK2 mutation were quite broad and included early and late disease onset. These finding may provide new insights into the cause and diagnosis of PD and have implications for genetic counseling.</div>
</front>
</TEI>
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<ArticleTitle>Genetic analysis of LRRK2 mutations in patients with Parkinson disease.</ArticleTitle>
<Pagination><MedlinePgn>102-6</MedlinePgn>
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<Abstract><AbstractText>In addition to the G2019S mutation in the leucine-rich repeat kinase 2 gene (LRRK2), which is particularly frequent in patients of Ashkenazi Jewish and Northern African origin, three amino acid substitutions (R1441C, R1441G, and R1441H), all at the same residue (R1441), have been identified as important genetic causes of Parkinson disease (PD). To evaluate the frequency of R1441C/G/H and G2019S mutations in the LRRK2 gene in North American patients with PD and to explore genotype-phenotype correlations, we screened 496 PD patients from North America. One Hispanic female was heterozygous for the LRRK2 R1441G mutation, and six other cases including 2 non-Jewish/non-Hispanic whites, 3 Ashkenazi Jewish, and 1 Hispanic, were found to be heterozygous for the LRRK2 G2019S mutation. G2019S mutation in the LRRK2 gene is a common mutation associated with PD in a North American population, especially in Jewish PD patients (10.7%), while the R1441C/G/H mutation occurs at a relatively low frequency in North Americans except possibly in Hispanics for R1441G. All six G2019S carriers shared a common haplotype with that observed in Europeans and North Africans. The clinical features of all seven cases with LRRK2 mutation were quite broad and included early and late disease onset. These finding may provide new insights into the cause and diagnosis of PD and have implications for genetic counseling.</AbstractText>
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<Language>eng</Language>
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<Acronym>NS</Acronym>
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<Country>United States</Country>
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<Grant><GrantID>NS 40370</GrantID>
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Serveur d'exploration autour de Joseph Jankovic

Genetic analysis of LRRK2 mutations in patients with Parkinson disease.

Genetic analysis of LRRK2 mutations in patients with Parkinson disease.

Source :

English descriptors

Abstract

Links to Exploration step

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki