Premutations in the FMR1 gene as a modifying factor in Parkin‐associated Parkinson's disease?
Identifieur interne : 003782 ( Main/Exploration ); précédent : 003781; suivant : 003783Premutations in the FMR1 gene as a modifying factor in Parkin‐associated Parkinson's disease?
Auteurs : Katja Hedrich [Allemagne] ; Peter P. Pramstaller [Italie] ; Katrin Stübke [Allemagne] ; Anja Hiller [Allemagne] ; Kemal Kabakci [Allemagne] ; Sabine Purmann [Allemagne] ; Meike Kasten [Allemagne] ; Cesa Scaglione [Italie] ; Eberhard Schwinger [Allemagne] ; Jens Volkmann [Allemagne] ; Vladimir Kostic [Serbie] ; Peter Vieregge [Allemagne] ; Paolo Martinelli [Italie] ; Giovanni Abbruzzese [Italie] ; Christine Klein [Allemagne] ; Christine Zühlke [Allemagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-08.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adolescent, Adult, Aged, Aged, 80 and over, Alleles, CGG repeat, DNA Mutational Analysis, FMR1, Female, Fragile X Mental Retardation Protein, Fragile X Syndrome (genetics), Genetic Linkage (genetics), Humans, Magnetic Resonance Imaging (methods), Male, Middle Aged, Mutation, Nerve Tissue Proteins (genetics), Nervous system diseases, Nuclear magnetic resonance imaging, Parkin, Parkin mutation, Parkinson Disease (genetics), Parkinson Disease (pathology), Parkinson disease, Parkinsonism, RNA, Messenger (biosynthesis), RNA-Binding Proteins (genetics), Reverse Transcriptase Polymerase Chain Reaction (methods), Sex Factors, Trinucleotide Repeats (genetics), Ubiquitin-Protein Ligases (genetics), parkinsonism.
- MESH :
- chemical , biosynthesis : RNA, Messenger.
- chemical , genetics : Nerve Tissue Proteins, RNA-Binding Proteins, Ubiquitin-Protein Ligases.
- chemical : Fragile X Mental Retardation Protein.
- genetics : Fragile X Syndrome, Genetic Linkage, Parkinson Disease, Trinucleotide Repeats.
- methods : Magnetic Resonance Imaging, Reverse Transcriptase Polymerase Chain Reaction.
- pathology : Parkinson Disease.
- Adolescent, Adult, Aged, Aged, 80 and over, Alleles, DNA Mutational Analysis, Female, Humans, Male, Middle Aged, Sex Factors.
Abstract
Premutations in the FMR1 gene may be associated with some cases of parkinsonism. To test this hypothesis, we determined the CGG repeat number in FMR1 in 673 individuals with and without parkinsonism and detected 3 premutation carriers (2 patients, 1 control). Of note, 1 of the affected premutation carriers had a heterozygous Parkin mutation. © 2005 Movement Disorder Society
Url:
DOI: 10.1002/mds.20512
Affiliations:
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Pramstaller</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurology, Regional Hospital Bolzano AND EURAC, Bolzano</wicri:regionArea><wicri:noRegion>Bolzano</wicri:noRegion></affiliation></author><author><name sortKey="Stubke, Katrin" sort="Stubke, Katrin" uniqKey="Stubke K" first="Katrin" last="Stübke">Katrin Stübke</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Hiller, Anja" sort="Hiller, Anja" uniqKey="Hiller A" first="Anja" last="Hiller">Anja Hiller</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Kabakci, Kemal" sort="Kabakci, Kemal" uniqKey="Kabakci K" first="Kemal" last="Kabakci">Kemal Kabakci</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Purmann, Sabine" sort="Purmann, Sabine" uniqKey="Purmann S" first="Sabine" last="Purmann">Sabine Purmann</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Christian Albrechts University of Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Scaglione, Cesa" sort="Scaglione, Cesa" uniqKey="Scaglione C" first="Cesa" last="Scaglione">Cesa Scaglione</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Schwinger, Eberhard" sort="Schwinger, Eberhard" uniqKey="Schwinger E" first="Eberhard" last="Schwinger">Eberhard Schwinger</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Volkmann, Jens" sort="Volkmann, Jens" uniqKey="Volkmann J" first="Jens" last="Volkmann">Jens Volkmann</name><affiliation wicri:level="3"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Christian Albrechts University of Kiel, Kiel</wicri:regionArea><placeName><region type="land" nuts="2">Schleswig-Holstein</region><settlement type="city">Kiel</settlement></placeName></affiliation></author><author><name sortKey="Kostic, Vladimir" sort="Kostic, Vladimir" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir Kostic</name><affiliation wicri:level="1"><country xml:lang="fr">Serbie</country><wicri:regionArea>Department of Neurology, University of Belgrade, Belgrade</wicri:regionArea><wicri:noRegion>Belgrade</wicri:noRegion></affiliation></author><author><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, Klinikum Lippe‐Lemgo, Lemgo</wicri:regionArea><wicri:noRegion>Lemgo</wicri:noRegion><wicri:noRegion>Lemgo</wicri:noRegion></affiliation></author><author><name sortKey="Martinelli, Paolo" sort="Martinelli, Paolo" uniqKey="Martinelli P" first="Paolo" last="Martinelli">Paolo Martinelli</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University of Bologna, Bologna</wicri:regionArea><wicri:noRegion>Bologna</wicri:noRegion></affiliation></author><author><name sortKey="Abbruzzese, Giovanni" sort="Abbruzzese, Giovanni" uniqKey="Abbruzzese G" first="Giovanni" last="Abbruzzese">Giovanni Abbruzzese</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences and Vision, University of Genova, Genova</wicri:regionArea><wicri:noRegion>Genova</wicri:noRegion></affiliation></author><author><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Neurology, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author><author><name sortKey="Zuhlke, Christine" sort="Zuhlke, Christine" uniqKey="Zuhlke C" first="Christine" last="Zühlke">Christine Zühlke</name><affiliation wicri:level="1"><country xml:lang="fr">Allemagne</country><wicri:regionArea>Department of Human Genetics, University of Lübeck, Lübeck</wicri:regionArea><wicri:noRegion>Lübeck</wicri:noRegion><wicri:noRegion>Lübeck</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. 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="2005-08">2005-08</date><biblScope unit="vol">20</biblScope><biblScope unit="issue">8</biblScope><biblScope unit="page" from="1060">1060</biblScope><biblScope unit="page" to="1062">1062</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">34F9D173D5AEB31D62B4D522D06756029353F676</idno><idno type="DOI">10.1002/mds.20512</idno><idno type="ArticleID">MDS20512</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Alleles</term><term>CGG repeat</term><term>DNA Mutational Analysis</term><term>FMR1</term><term>Female</term><term>Fragile X Mental Retardation Protein</term><term>Fragile X Syndrome (genetics)</term><term>Genetic Linkage (genetics)</term><term>Humans</term><term>Magnetic Resonance Imaging (methods)</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Nerve Tissue Proteins (genetics)</term><term>Nervous system diseases</term><term>Nuclear magnetic resonance imaging</term><term>Parkin</term><term>Parkin mutation</term><term>Parkinson Disease (genetics)</term><term>Parkinson Disease (pathology)</term><term>Parkinson disease</term><term>Parkinsonism</term><term>RNA, Messenger (biosynthesis)</term><term>RNA-Binding Proteins (genetics)</term><term>Reverse Transcriptase Polymerase Chain Reaction (methods)</term><term>Sex Factors</term><term>Trinucleotide Repeats (genetics)</term><term>Ubiquitin-Protein Ligases (genetics)</term><term>parkinsonism</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>Nerve Tissue Proteins</term><term>RNA-Binding Proteins</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Fragile X Mental Retardation Protein</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Fragile X Syndrome</term><term>Genetic Linkage</term><term>Parkinson Disease</term><term>Trinucleotide Repeats</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Magnetic Resonance Imaging</term><term>Reverse Transcriptase Polymerase Chain Reaction</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Alleles</term><term>DNA Mutational Analysis</term><term>Female</term><term>Humans</term><term>Male</term><term>Middle Aged</term><term>Sex Factors</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Imagerie RMN</term><term>Mutation</term><term>Parkine</term><term>Parkinson maladie</term><term>Parkinsonisme</term><term>Système nerveux pathologie</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Premutations in the FMR1 gene may be associated with some cases of parkinsonism. To test this hypothesis, we determined the CGG repeat number in FMR1 in 673 individuals with and without parkinsonism and detected 3 premutation carriers (2 patients, 1 control). Of note, 1 of the affected premutation carriers had a heterozygous Parkin mutation. © 2005 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Italie</li><li>Serbie</li></country><region><li>Schleswig-Holstein</li></region><settlement><li>Kiel</li></settlement></list><tree><country name="Allemagne"><noRegion><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name></noRegion><name sortKey="Hedrich, Katja" sort="Hedrich, Katja" uniqKey="Hedrich K" first="Katja" last="Hedrich">Katja Hedrich</name><name sortKey="Hiller, Anja" sort="Hiller, Anja" uniqKey="Hiller A" first="Anja" last="Hiller">Anja Hiller</name><name sortKey="Hiller, Anja" sort="Hiller, Anja" uniqKey="Hiller A" first="Anja" last="Hiller">Anja Hiller</name><name sortKey="Kabakci, Kemal" sort="Kabakci, Kemal" uniqKey="Kabakci K" first="Kemal" last="Kabakci">Kemal Kabakci</name><name sortKey="Kabakci, Kemal" sort="Kabakci, Kemal" uniqKey="Kabakci K" first="Kemal" last="Kabakci">Kemal Kabakci</name><name sortKey="Kasten, Meike" sort="Kasten, Meike" uniqKey="Kasten M" first="Meike" last="Kasten">Meike Kasten</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name><name sortKey="Purmann, Sabine" sort="Purmann, Sabine" uniqKey="Purmann S" first="Sabine" last="Purmann">Sabine Purmann</name><name sortKey="Schwinger, Eberhard" sort="Schwinger, Eberhard" uniqKey="Schwinger E" first="Eberhard" last="Schwinger">Eberhard Schwinger</name><name sortKey="Stubke, Katrin" sort="Stubke, Katrin" uniqKey="Stubke K" first="Katrin" last="Stübke">Katrin Stübke</name><name sortKey="Stubke, Katrin" sort="Stubke, Katrin" uniqKey="Stubke K" first="Katrin" last="Stübke">Katrin Stübke</name><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name><name sortKey="Vieregge, Peter" sort="Vieregge, Peter" uniqKey="Vieregge P" first="Peter" last="Vieregge">Peter Vieregge</name><name sortKey="Volkmann, Jens" sort="Volkmann, Jens" uniqKey="Volkmann J" first="Jens" last="Volkmann">Jens Volkmann</name><name sortKey="Zuhlke, Christine" sort="Zuhlke, Christine" uniqKey="Zuhlke C" first="Christine" last="Zühlke">Christine Zühlke</name></country><country name="Italie"><noRegion><name sortKey="Pramstaller, Peter P" sort="Pramstaller, Peter P" uniqKey="Pramstaller P" first="Peter P." last="Pramstaller">Peter P. Pramstaller</name></noRegion><name sortKey="Abbruzzese, Giovanni" sort="Abbruzzese, Giovanni" uniqKey="Abbruzzese G" first="Giovanni" last="Abbruzzese">Giovanni Abbruzzese</name><name sortKey="Martinelli, Paolo" sort="Martinelli, Paolo" uniqKey="Martinelli P" first="Paolo" last="Martinelli">Paolo Martinelli</name><name sortKey="Scaglione, Cesa" sort="Scaglione, Cesa" uniqKey="Scaglione C" first="Cesa" last="Scaglione">Cesa Scaglione</name></country><country name="Serbie"><noRegion><name sortKey="Kostic, Vladimir" sort="Kostic, Vladimir" uniqKey="Kostic V" first="Vladimir" last="Kostic">Vladimir Kostic</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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