Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1
Identifieur interne : 000A79 ( Istex/Curation ); précédent : 000A78; suivant : 000A80Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1
Auteurs : Raquel Ros [Espagne] ; Pilar G [Espagne] ; Michio Hirano [États-Unis] ; Yen Tai [Royaume-Uni] ; Israel Ampuero [Espagne] ; Lídice Vidal [Espagne] ; Ana Rojo [Espagne] ; Aurora Fontan [Espagne] ; Ana Vazquez [Espagne] ; Samira Fanjul [Espagne] ; Jaime Hernandez [Espagne] ; Susana Cantarero [Espagne] ; Janet Hoenicka [Espagne] ; Alison Jones [États-Unis] ; R Ahsan [Royaume-Uni] ; Nicola Pavese [Royaume-Uni] ; Paola Piccini [Royaume-Uni] ; David Brooks [Royaume-Uni] ; Jordi Perez [Espagne] ; Torbjorn Nyggard [États-Unis] ; Justo De [Espagne]Source :
- Annals of Neurology [ 0364-5134 ] ; 2005-05.
Abstract
Progressive supranuclear palsy (PSP) is a disorder of unknown pathogenesis. Familial clusters of PSP have been reported related to mutations of protein tau. We report the linkage of a large Spanish family with typical autosomal dominant PSP to a new locus in chromosome 1. Four members of this family had typical PSP, confirmed by neuropathology in one case. At least five ancestors had similar disease. Other members of the family have incomplete phenotypes. The power of the linkage analysis was increased by detecting presymptomatic individuals with 18F‐fluoro‐dopa and 18F‐deoxyglucose positron emission tomography. We screened the human genome with 340 polymorphic markers and we enriched the areas of interest with additional markers. The disease status was defined according to the clinical and positron emission tomography data. We excluded linkage to the tau gene in chromosome 17. PSP was linked, in this family, to one area of 3.4cM in chromosome 1q31.1, with a maximal multipoint < OD score of +3.53. This area contains at least three genes, whose relevance in PSP is unknown. We expect to further define the gene responsible for PSP, which could help to understand the pathogenesis of this disease and to design effective treatment. Ann Neurol 2005;57:634–641
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DOI: 10.1002/ana.20449
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Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Cantarero, Susana" sort="Cantarero, Susana" uniqKey="Cantarero S" first="Susana" last="Cantarero">Susana Cantarero</name><affiliation wicri:level="1"><mods:affiliation>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Hoenicka, Janet" sort="Hoenicka, Janet" uniqKey="Hoenicka J" first="Janet" last="Hoenicka">Janet Hoenicka</name><affiliation wicri:level="1"><mods:affiliation>Banco de Tejidos para Investigaciones Neurológicas, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Jones, Alison" sort="Jones, Alison" uniqKey="Jones A" 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sortKey="Pavese, Nicola" sort="Pavese, Nicola" uniqKey="Pavese N" first="Nicola" last="Pavese">Nicola Pavese</name><affiliation wicri:level="1"><mods:affiliation>MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Piccini, Paola" sort="Piccini, Paola" uniqKey="Piccini P" first="Paola" last="Piccini">Paola Piccini</name><affiliation wicri:level="1"><mods:affiliation>MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Brooks, David J" 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Valencia</wicri:regionArea></affiliation></author><author><name sortKey="Nyggard, Torbjorn" sort="Nyggard, Torbjorn" uniqKey="Nyggard T" first="Torbjorn" last="Nyggard">Torbjorn Nyggard</name><affiliation wicri:level="2"><mods:affiliation>Laboratory of Neurogenetics, Department of Neurology, The Neurological Institute, Columbia University, New York, NY</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Laboratory of Neurogenetics, Department of Neurology, The Neurological Institute, Columbia University, New York</wicri:cityArea></affiliation></author><author><name sortKey="De Yebenes, Justo G" sort="De Yebenes, Justo G" uniqKey="De Yebenes J" first="Justo" last="De">Justo De</name><affiliation wicri:level="1"><mods:affiliation>Banco de Tejidos para Investigaciones Neurológicas, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:B2C5B21E22B758047A441C8F6E5ECF628527B20F</idno><date when="2005" year="2005">2005</date><idno type="doi">10.1002/ana.20449</idno><idno type="url">https://api.istex.fr/document/B2C5B21E22B758047A441C8F6E5ECF628527B20F/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000A79</idno><idno type="wicri:Area/Istex/Curation">000A79</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1</title><author><name sortKey="Ros, Raquel" sort="Ros, Raquel" uniqKey="Ros R" first="Raquel" last="Ros">Raquel Ros</name><affiliation wicri:level="1"><mods:affiliation>Banco de Tejidos para Investigaciones Neurológicas, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="G Mez Garre, Pilar" sort="G Mez Garre, Pilar" uniqKey="G Mez Garre P" first="Pilar" last="G">Pilar G</name><affiliation wicri:level="1"><mods:affiliation>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Hirano, Michio" sort="Hirano, Michio" uniqKey="Hirano M" first="Michio" last="Hirano">Michio Hirano</name><affiliation wicri:level="2"><mods:affiliation>Laboratory of Neurogenetics, Department of Neurology, The Neurological Institute, Columbia University, New York, NY</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Laboratory of Neurogenetics, Department of Neurology, The Neurological Institute, Columbia University, New York</wicri:cityArea></affiliation></author><author><name sortKey="Tai, Yen F" sort="Tai, Yen F" uniqKey="Tai Y" first="Yen" last="Tai">Yen Tai</name><affiliation wicri:level="1"><mods:affiliation>MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Ampuero, Israel" sort="Ampuero, Israel" uniqKey="Ampuero I" first="Israel" last="Ampuero">Israel Ampuero</name><affiliation wicri:level="1"><mods:affiliation>Banco de Tejidos para Investigaciones Neurológicas, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Vidal, Lidice" sort="Vidal, Lidice" uniqKey="Vidal L" first="Lídice" last="Vidal">Lídice Vidal</name><affiliation wicri:level="1"><mods:affiliation>Banco de Tejidos para Investigaciones Neurológicas, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Rojo, Ana" sort="Rojo, Ana" uniqKey="Rojo A" first="Ana" last="Rojo">Ana Rojo</name><affiliation wicri:level="1"><mods:affiliation>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Fontan, Aurora" sort="Fontan, Aurora" uniqKey="Fontan A" first="Aurora" last="Fontan">Aurora Fontan</name><affiliation wicri:level="1"><mods:affiliation>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Vazquez, Ana" sort="Vazquez, Ana" uniqKey="Vazquez A" first="Ana" last="Vazquez">Ana Vazquez</name><affiliation wicri:level="1"><mods:affiliation>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Fanjul, Samira" sort="Fanjul, Samira" uniqKey="Fanjul S" first="Samira" last="Fanjul">Samira Fanjul</name><affiliation wicri:level="1"><mods:affiliation>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Hernandez, Jaime" sort="Hernandez, Jaime" uniqKey="Hernandez J" first="Jaime" last="Hernandez">Jaime Hernandez</name><affiliation wicri:level="1"><mods:affiliation>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Cantarero, Susana" sort="Cantarero, Susana" uniqKey="Cantarero S" first="Susana" last="Cantarero">Susana Cantarero</name><affiliation wicri:level="1"><mods:affiliation>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Hoenicka, Janet" sort="Hoenicka, Janet" uniqKey="Hoenicka J" first="Janet" last="Hoenicka">Janet Hoenicka</name><affiliation wicri:level="1"><mods:affiliation>Banco de Tejidos para Investigaciones Neurológicas, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Jones, Alison" sort="Jones, Alison" uniqKey="Jones A" first="Alison" last="Jones">Alison Jones</name><affiliation wicri:level="2"><mods:affiliation>Laboratory of Neurogenetics, Department of Neurology, The Neurological Institute, Columbia University, New York, NY</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Laboratory of Neurogenetics, Department of Neurology, The Neurological Institute, Columbia University, New York</wicri:cityArea></affiliation></author><author><name sortKey="Ahsan, R Laila" sort="Ahsan, R Laila" uniqKey="Ahsan R" first="R" last="Ahsan">R Ahsan</name><affiliation wicri:level="1"><mods:affiliation>MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Pavese, Nicola" sort="Pavese, Nicola" uniqKey="Pavese N" first="Nicola" last="Pavese">Nicola Pavese</name><affiliation wicri:level="1"><mods:affiliation>MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Piccini, Paola" sort="Piccini, Paola" uniqKey="Piccini P" first="Paola" last="Piccini">Paola Piccini</name><affiliation wicri:level="1"><mods:affiliation>MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Brooks, David J" sort="Brooks, David J" uniqKey="Brooks D" first="David" last="Brooks">David Brooks</name><affiliation wicri:level="1"><mods:affiliation>MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Perez Ur, Jordi" sort="Perez Ur, Jordi" uniqKey="Perez Ur J" first="Jordi" last="Perez">Jordi Perez</name><affiliation wicri:level="1"><mods:affiliation>Unitat de Genètica Molecular, Institut de Biomedicina, Consejo Superior de Investigaciones Científicas, Universidad de València, Valencia, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Unitat de Genètica Molecular, Institut de Biomedicina, Consejo Superior de Investigaciones Científicas, Universidad de València, Valencia</wicri:regionArea></affiliation></author><author><name sortKey="Nyggard, Torbjorn" sort="Nyggard, Torbjorn" uniqKey="Nyggard T" first="Torbjorn" last="Nyggard">Torbjorn Nyggard</name><affiliation wicri:level="2"><mods:affiliation>Laboratory of Neurogenetics, Department of Neurology, The Neurological Institute, Columbia University, New York, NY</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Laboratory of Neurogenetics, Department of Neurology, The Neurological Institute, Columbia University, New York</wicri:cityArea></affiliation></author><author><name sortKey="De Yebenes, Justo G" sort="De Yebenes, Justo G" uniqKey="De Yebenes J" first="Justo" last="De">Justo De</name><affiliation wicri:level="1"><mods:affiliation>Banco de Tejidos para Investigaciones Neurológicas, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid</wicri:regionArea></affiliation></author></analytic><monogr></monogr><series><title level="j">Annals of Neurology</title><title level="j" type="sub">Official Journal of the American Neurological Association and the Child Neurology Society</title><title level="j" type="abbrev">Ann Neurol.</title><idno type="ISSN">0364-5134</idno><idno type="eISSN">1531-8249</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2005-05">2005-05</date><biblScope unit="volume">57</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="634">634</biblScope><biblScope unit="page" to="641">641</biblScope></imprint><idno type="ISSN">0364-5134</idno></series><idno type="istex">B2C5B21E22B758047A441C8F6E5ECF628527B20F</idno><idno type="DOI">10.1002/ana.20449</idno><idno type="ArticleID">ANA20449</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0364-5134</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Progressive supranuclear palsy (PSP) is a disorder of unknown pathogenesis. Familial clusters of PSP have been reported related to mutations of protein tau. We report the linkage of a large Spanish family with typical autosomal dominant PSP to a new locus in chromosome 1. Four members of this family had typical PSP, confirmed by neuropathology in one case. At least five ancestors had similar disease. Other members of the family have incomplete phenotypes. The power of the linkage analysis was increased by detecting presymptomatic individuals with 18F‐fluoro‐dopa and 18F‐deoxyglucose positron emission tomography. We screened the human genome with 340 polymorphic markers and we enriched the areas of interest with additional markers. The disease status was defined according to the clinical and positron emission tomography data. We excluded linkage to the tau gene in chromosome 17. PSP was linked, in this family, to one area of 3.4cM in chromosome 1q31.1, with a maximal multipoint < OD score of +3.53. This area contains at least three genes, whose relevance in PSP is unknown. We expect to further define the gene responsible for PSP, which could help to understand the pathogenesis of this disease and to design effective treatment. Ann Neurol 2005;57:634–641</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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|area= JankovicV1
|flux= Istex
|étape= Curation
|type= RBID
|clé= ISTEX:B2C5B21E22B758047A441C8F6E5ECF628527B20F
|texte= Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1
}}
| This area was generated with Dilib version V0.6.19. |  |