MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 001547

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

Identifieur interne : 001547 ( PascalFrancis/Checkpoint ); précédent : 001546; suivant : 001548

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

Auteurs : Mathias Toft [États-Unis, Norvège] ; Ignacio F. Mata [États-Unis, Espagne] ; Owen A. Ross [États-Unis] ; Jennifer Kachergus [États-Unis] ; Mary M. Hulihan [États-Unis] ; Kristoffer Haugarvoll [États-Unis, Norvège] ; Jeremy T. Stone [États-Unis] ; Marta Blazquez [Espagne] ; J. Mark Gibson [Irlande (pays)] ; Jan O. Aasly [Norvège] ; Linda R. White [Norvège] ; Timothy Lynch [Irlande (pays)] ; Charles H. Adler [États-Unis] ; Katrina Gwinn-Hardy [États-Unis] ; Matthew J. Farrer [États-Unis]

Source :

Movement disorders [ 0885-3185 ] ; 2007.

RBID : Pascal:07-0181700

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinson maladie, Pouvoir pathogène, Substitution.

English descriptors

KwdEn :
- Nervous system diseases, Parkinson disease, Pathogenicity, Substitution.

Abstract

An increasing number of nonsynonymous LRRK2 variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case-control series demonstrate that the R1514Q substitution is not associated with increased risk of disease (OR: 1.3; 95% CI: 0.6-2.8; P = 0.45). These findings highlight the importance of using family-based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease.

Affiliations:

Espagne, Irlande (pays), Norvège, États-Unis
Floride, Maryland, Trøndelag
Trondheim

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Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease</title>
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<country>Norvège</country>
<placeName><settlement type="city">Trondheim</settlement>
<region type="région" nuts="2">Trøndelag</region>
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</author>
<author><name sortKey="Lynch, Timothy" sort="Lynch, Timothy" uniqKey="Lynch T" first="Timothy" last="Lynch">Timothy Lynch</name>
<affiliation wicri:level="1"><inist:fA14 i1="07"><s1>Department of Neurology, Mater Misericordiae Hospital, Dublin, and University College Dublin Conway Neur</s1>
<s2>Dublin</s2>
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<sZ>12 aut.</sZ>
</inist:fA14>
<country>Irlande (pays)</country>
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</affiliation>
</author>
<author><name sortKey="Adler, Charles H" sort="Adler, Charles H" uniqKey="Adler C" first="Charles H." last="Adler">Charles H. Adler</name>
<affiliation wicri:level="2"><inist:fA14 i1="08"><s1>Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health</s1>
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<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
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<country>États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gwinn Hardy, Katrina" sort="Gwinn Hardy, Katrina" uniqKey="Gwinn Hardy K" first="Katrina" last="Gwinn-Hardy">Katrina Gwinn-Hardy</name>
<affiliation wicri:level="2"><inist:fA14 i1="08"><s1>Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health</s1>
<s2>Bethesda, Maryland</s2>
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</affiliation>
</author>
<author><name sortKey="Farrer, Matthew J" sort="Farrer, Matthew J" uniqKey="Farrer M" first="Matthew J." last="Farrer">Matthew J. Farrer</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Department of Neuroscience, Mayo Clinic College of Medicine</s1>
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<sZ>2 aut.</sZ>
<sZ>3 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
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<series><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
<imprint><date when="2007">2007</date>
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<term>Parkinson disease</term>
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<front><div type="abstract" xml:lang="en">An increasing number of nonsynonymous LRRK2 variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case-control series demonstrate that the R1514Q substitution is not associated with increased risk of disease (OR: 1.3; 95% CI: 0.6-2.8; P = 0.45). These findings highlight the importance of using family-based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease.</div>
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<fA11 i1="10" i2="1"><s1>AASLY (Jan O.)</s1>
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<fA11 i1="15" i2="1"><s1>FARRER (Matthew J.)</s1>
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<fA14 i1="01"><s1>Department of Neuroscience, Mayo Clinic College of Medicine</s1>
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<s3>USA</s3>
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<sZ>7 aut.</sZ>
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<fA14 i1="02"><s1>Department of Neuroscience, Norwegian University of Science and Technology</s1>
<s2>Trondheim</s2>
<s3>NOR</s3>
<sZ>1 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>11 aut.</sZ>
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<fA14 i1="03"><s1>Laboratorio de Genetica Molecular, Instituto de Investigacion Nefrologica (IRSIN-FRIAT), Hospital Universitario Central de Asturias</s1>
<s2>Oviedo</s2>
<s3>ESP</s3>
<sZ>2 aut.</sZ>
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<fA14 i1="04"><s1>Servicio de Neurologia, Hospital Universitario Central de Asturias</s1>
<s2>Oviedo</s2>
<s3>ESP</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Department of Neurology, Royal Victoria Hospital</s1>
<s2>Belfast</s2>
<s3>IRL</s3>
<sZ>9 aut.</sZ>
</fA14>
<fA14 i1="06"><s1>Department of Neurology, St. Olav's Hospital</s1>
<s2>Trondheim</s2>
<s3>NOR</s3>
<sZ>10 aut.</sZ>
</fA14>
<fA14 i1="07"><s1>Department of Neurology, Mater Misericordiae Hospital, Dublin, and University College Dublin Conway Neur</s1>
<s2>Dublin</s2>
<s3>IRL</s3>
<sZ>12 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Neurogenetics, National Institute of Neurological Disorders and Stroke, National Institutes of Health</s1>
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<fC01 i1="01" l="ENG"><s0>An increasing number of nonsynonymous LRRK2 variants are being reported as putative pathogenic mutations. We identified one large kindred harboring the Lrrk2 R1514Q substitution; however, the variant did not segregate fully with disease. Combined analyses of three case-control series demonstrate that the R1514Q substitution is not associated with increased risk of disease (OR: 1.3; 95% CI: 0.6-2.8; P = 0.45). These findings highlight the importance of using family-based studies and multiple population screenings when examining the association of these polymorphic LRRK2 gene variants with Parkinson's disease.</s0>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease

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