Mutation of the Parkin gene in a Persian family: Clinical progression over a 40‐year period
Identifieur interne : 003834 ( Main/Exploration ); précédent : 003833; suivant : 003835Mutation 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 ] ; 2005-07.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Aged, DNA Mutational Analysis (methods), Exons, Female, Heterogeneity, Humans, Iran, Male, Mutation, Nervous system diseases, Odds Ratio, PARK2, Parkin, Parkinson disease, Parkinson's disease, Parkinsonian Disorders (genetics), Pedigree, RNA, Messenger (biosynthesis), Reverse Transcriptase Polymerase Chain Reaction (methods), Siblings, Ubiquitin-Protein Ligases (genetics), clinical heterogeneity, genetics.
- MESH :
- chemical , biosynthesis : RNA, Messenger.
- chemical , genetics : Ubiquitin-Protein Ligases.
- geographic : Iran.
- genetics : Parkinsonian Disorders.
- methods : DNA Mutational Analysis, Reverse Transcriptase Polymerase Chain Reaction.
- Aged, Exons, Female, Humans, Male, Mutation, Odds Ratio, Pedigree, Siblings.
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. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20495
Affiliations:
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sortKey="Djaldetti, Ruth" sort="Djaldetti, Ruth" uniqKey="Djaldetti R" first="Ruth" last="Djaldetti">Ruth Djaldetti</name><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Department of Neurology, Rabin Medical Center, Beilinson Campus Felsenstein Research Center, Petah Tiqva, affiliated to the Sackler School of Medicine, Tel Aviv University, Tel Aviv</wicri:regionArea><wicri:noRegion>Tel Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name><affiliation wicri:level="2"><country xml:lang="fr">États-Unis</country><wicri:regionArea>Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland</wicri:regionArea><placeName><region type="state">Maryland</region></placeName></affiliation></author><author><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" 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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2005-07">2005-07</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">7</biblScope><biblScope unit="page" from="887">887</biblScope><biblScope unit="page" to="890">890</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">6FBE5117A9567D473A5280467ED09DF53EB6FDDC</idno><idno type="DOI">10.1002/mds.20495</idno><idno type="ArticleID">MDS20495</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term><term>DNA Mutational Analysis (methods)</term><term>Exons</term><term>Female</term><term>Heterogeneity</term><term>Humans</term><term>Iran</term><term>Male</term><term>Mutation</term><term>Nervous system diseases</term><term>Odds Ratio</term><term>PARK2</term><term>Parkin</term><term>Parkinson disease</term><term>Parkinson's disease</term><term>Parkinsonian Disorders (genetics)</term><term>Pedigree</term><term>RNA, Messenger (biosynthesis)</term><term>Reverse Transcriptase Polymerase Chain Reaction (methods)</term><term>Siblings</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>clinical heterogeneity</term><term>genetics</term></keywords><keywords scheme="MESH" type="chemical" qualifier="biosynthesis" xml:lang="en"><term>RNA, Messenger</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Iran</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>DNA Mutational Analysis</term><term>Reverse Transcriptase Polymerase Chain Reaction</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Exons</term><term>Female</term><term>Humans</term><term>Male</term><term>Mutation</term><term>Odds Ratio</term><term>Pedigree</term><term>Siblings</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Hétérogénéité</term><term>Mutation</term><term>Parkine</term><term>Parkinson maladie</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><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. © 2005 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Israël</li><li>Japon</li><li>États-Unis</li></country><region><li>Maryland</li></region><settlement><li>Tokyo</li></settlement></list><tree><country name="États-Unis"><region name="Maryland"><name sortKey="Clarimon, Jordi" sort="Clarimon, Jordi" uniqKey="Clarimon J" first="Jordi" last="Clarimon">Jordi Clarimon</name></region><name sortKey="Hernandez, Dena" sort="Hernandez, Dena" uniqKey="Hernandez D" first="Dena" last="Hernandez">Dena Hernandez</name><name sortKey="Johnson, Janel" sort="Johnson, Janel" uniqKey="Johnson J" first="Janel" last="Johnson">Janel Johnson</name><name sortKey="Singleton, Andrew" sort="Singleton, Andrew" uniqKey="Singleton A" first="Andrew" last="Singleton">Andrew Singleton</name></country><country name="Israël"><noRegion><name sortKey="Djaldetti, Ruth" sort="Djaldetti, Ruth" uniqKey="Djaldetti R" first="Ruth" last="Djaldetti">Ruth Djaldetti</name></noRegion><name sortKey="Barhom, Yael" sort="Barhom, Yael" uniqKey="Barhom Y" first="Yael" last="Barhom">Yael Barhom</name><name sortKey="Sroka, Hava" sort="Sroka, Hava" uniqKey="Sroka H" first="Hava" last="Sroka">Hava Sroka</name></country><country name="Japon"><noRegion><name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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