ParkinsonCanadaV1, Main, Exploration, bibRecord, 002F13

Parkin-proven disease: Common founders but divergent phenotypes

Identifieur interne : 002F13 ( Main/Exploration ); précédent : 002F12; suivant : 002F14

Parkin-proven disease: Common founders but divergent phenotypes

Auteurs : S. Lincoln [États-Unis] ; J. Wiley [Irlande (pays)] ; T. Lynch [Irlande (pays)] ; J. W. Langston [États-Unis] ; R. Chen [États-Unis] ; A. Lang [Canada] ; E. Rogaeva [Canada] ; D. S. Sa [Canada] ; R. P. Munhoz [Canada] ; J. Harris [États-Unis] ; K. Marder [États-Unis] ; C. Klein [Allemagne] ; G. Bisceglio [États-Unis] ; J. Hussey [États-Unis] ; A. West [États-Unis] ; M. Hulihan [États-Unis] ; J. Hardy [États-Unis] ; M. Farrer [États-Unis]

Source :

Neurology [ 0028-3878 ] ; 2003.

RBID : Pascal:03-0368173

Descripteurs français

Pascal (Inist)
- Parkinson maladie, Délétion, Phénotype, Etude cas, Exploration, Homme, Etude comparative, Parkine.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Case study, Comparative study, Deletion, Exploration, Human, Parkinson disease, Phenotype.

Abstract

Objective: To compare and contrast clinical and genetic findings in six probands with parkinsonism with a parkin exon 3 438- to 477-bp deletion (Ex3A40) to search for evidence of a common founder. Method: Clinical review, parkin gene sequencing, dosage studies, and high-resolution genotype/haplotype analysis were performed. Results: All subjects had two or more signs consistent with a diagnosis of possible or probable PD with age at onset younger than 45 years (mean ± SD 29.3 ± 10.2 years, range 16 to 42 years). Affected individuals were either homozygotes, compound heterozygotes, or Ex3Δ40 carriers with one normal parkin allele. Haplotype analysis revealed both Ex3A40 and Ex7 924 C→T (R275W) mutations originated from common founders, the former most probably of Irish descent. Although three cases had Ex7 924 C→T (R275W) and Ex3Δ40 mutations, their clinical presentation and mode of inheritance were variable. Conclusion: Parkin mutations on common parkin haplotypes provide testable hypotheses of parkin function in genetically defined parkinsonism.

Affiliations:

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

to stream PascalFrancis, to step Corpus: 000A64
to stream PascalFrancis, to step Curation: 000259
to stream PascalFrancis, to step Checkpoint: 000930
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to stream Main, to step Curation: 002F13

Le document en format XML

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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Parkin-proven disease: Common founders but divergent phenotypes</title>
<author><name sortKey="Lincoln, S" sort="Lincoln, S" uniqKey="Lincoln S" first="S." last="Lincoln">S. Lincoln</name>
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<wicri:noRegion>Medical University of Luebeck</wicri:noRegion>
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</affiliation>
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</affiliation>
</author>
<author><name sortKey="Hussey, J" sort="Hussey, J" uniqKey="Hussey J" first="J." last="Hussey">J. Hussey</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetic Laboratories, Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="West, A" sort="West, A" uniqKey="West A" first="A." last="West">A. West</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetic Laboratories, Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hulihan, M" sort="Hulihan, M" uniqKey="Hulihan M" first="M." last="Hulihan">M. Hulihan</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetic Laboratories, Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hardy, J" sort="Hardy, J" uniqKey="Hardy J" first="J." last="Hardy">J. Hardy</name>
<affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Laboratory of Neurogenetics, National Institute on Aging, NIH</s1>
<s2>Bethesda, MD</s2>
<s3>USA</s3>
<sZ>17 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Bethesda, MD</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Farrer, M" sort="Farrer, M" uniqKey="Farrer M" first="M." last="Farrer">M. Farrer</name>
<affiliation wicri:level="1"><inist:fA14 i1="01"><s1>Neurogenetic Laboratories, Department of Neuroscience, Mayo Clinic</s1>
<s2>Jacksonville, FL</s2>
<s3>USA</s3>
<sZ>1 aut.</sZ>
<sZ>13 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>15 aut.</sZ>
<sZ>16 aut.</sZ>
<sZ>18 aut.</sZ>
</inist:fA14>
<country>États-Unis</country>
<wicri:noRegion>Jacksonville, FL</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
<idno type="ISSN">0028-3878</idno>
<imprint><date when="2003">2003</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><title level="j" type="main">Neurology</title>
<title level="j" type="abbreviated">Neurology</title>
<idno type="ISSN">0028-3878</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Case study</term>
<term>Comparative study</term>
<term>Deletion</term>
<term>Exploration</term>
<term>Human</term>
<term>Parkinson disease</term>
<term>Phenotype</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Parkinson maladie</term>
<term>Délétion</term>
<term>Phénotype</term>
<term>Etude cas</term>
<term>Exploration</term>
<term>Homme</term>
<term>Etude comparative</term>
<term>Parkine</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Homme</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Objective: To compare and contrast clinical and genetic findings in six probands with parkinsonism with a parkin exon 3 438- to 477-bp deletion (Ex3A40) to search for evidence of a common founder. Method: Clinical review, parkin gene sequencing, dosage studies, and high-resolution genotype/haplotype analysis were performed. Results: All subjects had two or more signs consistent with a diagnosis of possible or probable PD with age at onset younger than 45 years (mean ± SD 29.3 ± 10.2 years, range 16 to 42 years). Affected individuals were either homozygotes, compound heterozygotes, or Ex3Δ40 carriers with one normal parkin allele. Haplotype analysis revealed both Ex3A40 and Ex7 924 C→T (R275W) mutations originated from common founders, the former most probably of Irish descent. Although three cases had Ex7 924 C→T (R275W) and Ex3Δ40 mutations, their clinical presentation and mode of inheritance were variable. Conclusion: Parkin mutations on common parkin haplotypes provide testable hypotheses of parkin function in genetically defined parkinsonism.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Canada</li>
<li>Irlande (pays)</li>
<li>États-Unis</li>
</country>
<region><li>Ontario</li>
<li>État de New York</li>
</region>
<settlement><li>New York</li>
<li>Toronto</li>
</settlement>
<orgName><li>Université Columbia</li>
<li>Université de Toronto</li>
</orgName>
</list>
<tree><country name="États-Unis"><noRegion><name sortKey="Lincoln, S" sort="Lincoln, S" uniqKey="Lincoln S" first="S." last="Lincoln">S. Lincoln</name>
</noRegion>
<name sortKey="Bisceglio, G" sort="Bisceglio, G" uniqKey="Bisceglio G" first="G." last="Bisceglio">G. Bisceglio</name>
<name sortKey="Chen, R" sort="Chen, R" uniqKey="Chen R" first="R." last="Chen">R. Chen</name>
<name sortKey="Farrer, M" sort="Farrer, M" uniqKey="Farrer M" first="M." last="Farrer">M. Farrer</name>
<name sortKey="Hardy, J" sort="Hardy, J" uniqKey="Hardy J" first="J." last="Hardy">J. Hardy</name>
<name sortKey="Harris, J" sort="Harris, J" uniqKey="Harris J" first="J." last="Harris">J. Harris</name>
<name sortKey="Hulihan, M" sort="Hulihan, M" uniqKey="Hulihan M" first="M." last="Hulihan">M. Hulihan</name>
<name sortKey="Hussey, J" sort="Hussey, J" uniqKey="Hussey J" first="J." last="Hussey">J. Hussey</name>
<name sortKey="Langston, J W" sort="Langston, J W" uniqKey="Langston J" first="J. W." last="Langston">J. W. Langston</name>
<name sortKey="Marder, K" sort="Marder, K" uniqKey="Marder K" first="K." last="Marder">K. Marder</name>
<name sortKey="West, A" sort="West, A" uniqKey="West A" first="A." last="West">A. West</name>
</country>
<country name="Irlande (pays)"><noRegion><name sortKey="Wiley, J" sort="Wiley, J" uniqKey="Wiley J" first="J." last="Wiley">J. Wiley</name>
</noRegion>
<name sortKey="Lynch, T" sort="Lynch, T" uniqKey="Lynch T" first="T." last="Lynch">T. Lynch</name>
</country>
<country name="Canada"><region name="Ontario"><name sortKey="Lang, A" sort="Lang, A" uniqKey="Lang A" first="A." last="Lang">A. Lang</name>
</region>
<name sortKey="Munhoz, R P" sort="Munhoz, R P" uniqKey="Munhoz R" first="R. P." last="Munhoz">R. P. Munhoz</name>
<name sortKey="Rogaeva, E" sort="Rogaeva, E" uniqKey="Rogaeva E" first="E." last="Rogaeva">E. Rogaeva</name>
<name sortKey="Sa, D S" sort="Sa, D S" uniqKey="Sa D" first="D. S." last="Sa">D. S. Sa</name>
</country>
<country name="Allemagne"><noRegion><name sortKey="Klein, C" sort="Klein, C" uniqKey="Klein C" first="C." last="Klein">C. Klein</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>

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	La maladie de Parkinson au Canada (serveur d'exploration)
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La maladie de Parkinson au Canada (serveur d'exploration)

Parkin-proven disease: Common founders but divergent phenotypes

Parkin-proven disease: Common founders but divergent phenotypes

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