MovDisordV3, Main, Merge, bibRecord, 005266

Mutation of the parkin gene in a persian family : Clinical progression over a 40-year period

Identifieur interne : 005266 ( Main/Merge ); précédent : 005265; suivant : 005267

Mutation of the parkin gene in a persian family : Clinical progression over a 40-year period

Auteurs : Jordi Clarimon [États-Unis] ; Janel Johnson [États-Unis] ; Ruth Djaldetti [Israël] ; Dena Hernandez [États-Unis] ; Nobutaka Hattori [Japon] ; Hava Sroka [Israël] ; Yael Barhom [Israël] ; Andrew Singleton [États-Unis]

Source :

Movement disorders [ 0885-3185 ] ; 2005.

RBID : Pascal:05-0387188

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinson maladie, Mutation, Parkine, Hétérogénéité.

English descriptors

KwdEn :
- Heterogeneity, Mutation, Nervous system diseases, Parkin, Parkinson disease.

Abstract

We report on an Israeli family originating from Iran in which 4 of 7 brothers born from a consanguineous marriage had juvenile Parkinsonism. Linkage analysis of markers covering the autosomal recessive juvenile Parkinsonism (AR-JP, PARK2, Parkin gene, OMIM #602544) gene resulted in a maximal logarithm of odds score of 2.18. A homozygous deletion that expanded from exon 4 to exon 6 was identified in all the patients. Significant clinical heterogeneity was present between siblings.

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Pascal:05-0387188

Le document en format XML

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<affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Neurology, Rabin Medical Center, Beilinson Campus, and Felsenstein Research Center, Petah Tiqva, affiliated to the Sackler School of Medicine, Tel Aviv University</s1>
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<author><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name>
<affiliation wicri:level="2"><inist:fA14 i1="01"><s1>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health</s1>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Heterogeneity</term>
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<keywords scheme="Pascal" xml:lang="fr"><term>Système nerveux pathologie</term>
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<front><div type="abstract" xml:lang="en">We report on an Israeli family originating from Iran in which 4 of 7 brothers born from a consanguineous marriage had juvenile Parkinsonism. Linkage analysis of markers covering the autosomal recessive juvenile Parkinsonism (AR-JP, PARK2, Parkin gene, OMIM #602544) gene resulted in a maximal logarithm of odds score of 2.18. A homozygous deletion that expanded from exon 4 to exon 6 was identified in all the patients. Significant clinical heterogeneity was present between siblings.</div>
</front>
</TEI>
<affiliations><list><country><li>Israël</li>
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<name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name>
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<country name="Israël"><noRegion><name sortKey="Djaldetti, Ruth" sort="Djaldetti, Ruth" uniqKey="Djaldetti R" first="Ruth" last="Djaldetti">Ruth Djaldetti</name>
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<country name="Japon"><noRegion><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Mutation of the parkin gene in a persian family : Clinical progression over a 40-year period

Mutation of the parkin gene in a persian family : Clinical progression over a 40-year period

Source :

Descripteurs français

English descriptors

Abstract

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

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