Genetic linkage of autosomal dominant progressive supranuclear palsy to 1q31.1
Identifieur interne : 000D05 ( Istex/Checkpoint ); précédent : 000D04; suivant : 000D06Genetic 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
Url:
DOI: 10.1002/ana.20449
Affiliations:
- Espagne, Royaume-Uni, États-Unis
- Angleterre, Communauté de Madrid, Grand Londres, État de New York
- Londres, Madrid
- Université autonome de Madrid
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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="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Pavese, Nicola" sort="Pavese, Nicola" uniqKey="Pavese N" first="Nicola" last="Pavese">Nicola Pavese</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></affiliation></author><author><name sortKey="Piccini, Paola" sort="Piccini, Paola" uniqKey="Piccini P" first="Paola" last="Piccini">Paola Piccini</name><affiliation wicri:level="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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="3"><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Clinical Sciences Centre, Hammersmith Hospital, Imperial College London, London</wicri:regionArea><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName></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"><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><wicri:noRegion>Valencia</wicri:noRegion></affiliation></author><author><name sortKey="Nyggard, Torbjorn" sort="Nyggard, Torbjorn" uniqKey="Nyggard T" first="Torbjorn" last="Nyggard">Torbjorn Nyggard</name><affiliation wicri:level="2"><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"><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea><wicri:noRegion>Madrid</wicri:noRegion></affiliation><affiliation wicri:level="4"><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Universidad Autónoma de Madrid, Madrid</wicri:regionArea><orgName type="university">Université autonome de Madrid</orgName><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></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><affiliations><list><country><li>Espagne</li><li>Royaume-Uni</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Communauté de Madrid</li><li>Grand Londres</li><li>État de New York</li></region><settlement><li>Londres</li><li>Madrid</li></settlement><orgName><li>Université autonome de Madrid</li></orgName></list><tree><country name="Espagne"><noRegion><name sortKey="Ros, Raquel" sort="Ros, Raquel" uniqKey="Ros R" first="Raquel" last="Ros">Raquel Ros</name></noRegion><name sortKey="Ampuero, Israel" sort="Ampuero, Israel" uniqKey="Ampuero I" first="Israel" last="Ampuero">Israel Ampuero</name><name sortKey="Cantarero, Susana" sort="Cantarero, Susana" uniqKey="Cantarero S" first="Susana" last="Cantarero">Susana Cantarero</name><name sortKey="De Yebenes, Justo G" sort="De Yebenes, Justo G" uniqKey="De Yebenes J" first="Justo" last="De">Justo De</name><name sortKey="De Yebenes, Justo G" sort="De Yebenes, Justo G" uniqKey="De Yebenes J" first="Justo" last="De">Justo De</name><name sortKey="Fanjul, Samira" sort="Fanjul, Samira" uniqKey="Fanjul S" first="Samira" last="Fanjul">Samira Fanjul</name><name sortKey="Fontan, Aurora" sort="Fontan, Aurora" uniqKey="Fontan A" first="Aurora" last="Fontan">Aurora Fontan</name><name sortKey="G Mez Garre, Pilar" sort="G Mez Garre, Pilar" uniqKey="G Mez Garre P" first="Pilar" last="G">Pilar G</name><name sortKey="Hernandez, Jaime" sort="Hernandez, Jaime" uniqKey="Hernandez J" first="Jaime" last="Hernandez">Jaime Hernandez</name><name sortKey="Hoenicka, Janet" sort="Hoenicka, Janet" uniqKey="Hoenicka J" first="Janet" last="Hoenicka">Janet Hoenicka</name><name sortKey="Perez Ur, Jordi" sort="Perez Ur, Jordi" uniqKey="Perez Ur J" first="Jordi" last="Perez">Jordi Perez</name><name sortKey="Rojo, Ana" sort="Rojo, Ana" uniqKey="Rojo A" first="Ana" last="Rojo">Ana Rojo</name><name sortKey="Vazquez, Ana" sort="Vazquez, Ana" uniqKey="Vazquez A" first="Ana" last="Vazquez">Ana Vazquez</name><name sortKey="Vidal, Lidice" sort="Vidal, Lidice" uniqKey="Vidal L" first="Lídice" last="Vidal">Lídice Vidal</name></country><country name="États-Unis"><region name="État de New York"><name sortKey="Hirano, Michio" sort="Hirano, Michio" uniqKey="Hirano M" first="Michio" last="Hirano">Michio Hirano</name></region><name sortKey="Jones, Alison" sort="Jones, Alison" uniqKey="Jones A" first="Alison" last="Jones">Alison Jones</name><name sortKey="Nyggard, Torbjorn" sort="Nyggard, Torbjorn" uniqKey="Nyggard T" first="Torbjorn" last="Nyggard">Torbjorn Nyggard</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Tai, Yen F" sort="Tai, Yen F" uniqKey="Tai Y" first="Yen" last="Tai">Yen Tai</name></region><name sortKey="Ahsan, R Laila" sort="Ahsan, R Laila" uniqKey="Ahsan R" first="R" last="Ahsan">R Ahsan</name><name sortKey="Brooks, David J" sort="Brooks, David J" uniqKey="Brooks D" first="David" last="Brooks">David Brooks</name><name sortKey="Pavese, Nicola" sort="Pavese, Nicola" uniqKey="Pavese N" first="Nicola" last="Pavese">Nicola Pavese</name><name sortKey="Piccini, Paola" sort="Piccini, Paola" uniqKey="Piccini P" first="Paola" last="Piccini">Paola Piccini</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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