Steele‐Richardson‐Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein
Identifieur interne : 000F31 ( Istex/Curation ); précédent : 000F30; suivant : 000F32Steele‐Richardson‐Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein
Auteurs : Blas Morales ; Armando Martínez [Espagne] ; Isabel Gonzalo [Espagne] ; Lidice Vidal [Espagne] ; Raquel Ros [Espagne] ; Estrella Gomez-Tortosa [Espagne] ; Alberto Rabano [Espagne] ; Israel Ampuero [Espagne] ; Marina Sánchez [Espagne] ; Janet Hoenicka [Espagne] ; Justo García De Yébenes [Espagne]Source :
- Movement Disorders [ 0885-3185 ] ; 2002-11.
English descriptors
Abstract
Steele‐Richardson‐Olszewski syndrome (SROS) is a neurodegenerative disorder of unknown aetiology, most frequently sporadic. Familial cases of SROS have been described. An intronic polymorphism of the tau gene is associated with sporadic SROS and mutations of the tau gene are present in atypical cases of SROS. The role of tau has been excluded in other families with pathology proven SROS, suggesting that this syndrome may have multiple causes. An 82‐year‐old patient, father of 3 children with autosomal recessive juvenile parkinsonism due to combined heterozygous mutations of the parkin gene, developed clinical features of SROS 2 years before death. The diagnosis was confirmed by pathology. He carried the C212Y mutation of the parkin gene and was homozygous for the A0 polymorphism and for the H1 haplotype. The role of parkin in the processing of tau is discussed. © 2002 Movement Disorder Society
Url:
DOI: 10.1002/mds.10264
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000F31
Links to Exploration step
ISTEX:F816579612BEC0385B1DBDBD3FC09F70A0696EEDCuration
No country items
Blas Morales<affiliation><mods:affiliation>Hospital Universitario, San Cecilio, Granada</mods:affiliation><wicri:noCountry code="subField">Granada</wicri:noCountry></affiliation>Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Steele‐Richardson‐Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein</title><author><name sortKey="Morales, Blas" sort="Morales, Blas" uniqKey="Morales B" first="Blas" last="Morales">Blas Morales</name><affiliation><mods:affiliation>Hospital Universitario, San Cecilio, Granada</mods:affiliation><wicri:noCountry code="subField">Granada</wicri:noCountry></affiliation></author><author><name sortKey="Martinez, Armando" sort="Martinez, Armando" uniqKey="Martinez A" first="Armando" last="Martínez">Armando Martínez</name><affiliation wicri:level="1"><mods:affiliation>Hospital Clínico Universitario S. Carlos, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Hospital Clínico Universitario S. Carlos, Madrid</wicri:regionArea></affiliation><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="Gonzalo, Isabel" sort="Gonzalo, Isabel" uniqKey="Gonzalo I" first="Isabel" last="Gonzalo">Isabel Gonzalo</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="Lidice" last="Vidal">Lidice 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="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="Gomez Ortosa, Estrella" sort="Gomez Ortosa, Estrella" uniqKey="Gomez Ortosa E" first="Estrella" last="Gomez-Tortosa">Estrella Gomez-Tortosa</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, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Rabano, Alberto" sort="Rabano, Alberto" uniqKey="Rabano A" first="Alberto" last="Rabano">Alberto Rabano</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="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="Sanchez, Marina" sort="Sanchez, Marina" uniqKey="Sanchez M" first="Marina" last="Sánchez">Marina Sánchez</name><affiliation wicri:level="1"><mods:affiliation>Fundación Jiménez Díaz, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, 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="Garcia De Yebenes, Justo" sort="Garcia De Yebenes, Justo" uniqKey="Garcia De Yebenes J" first="Justo" last="García De Yébenes">Justo García De Yébenes</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, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Madrid</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:F816579612BEC0385B1DBDBD3FC09F70A0696EED</idno><date when="2002" year="2002">2002</date><idno type="doi">10.1002/mds.10264</idno><idno type="url">https://api.istex.fr/document/F816579612BEC0385B1DBDBD3FC09F70A0696EED/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000F31</idno><idno type="wicri:Area/Istex/Curation">000F31</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Steele‐Richardson‐Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein</title><author><name sortKey="Morales, Blas" sort="Morales, Blas" uniqKey="Morales B" first="Blas" last="Morales">Blas Morales</name><affiliation><mods:affiliation>Hospital Universitario, San Cecilio, Granada</mods:affiliation><wicri:noCountry code="subField">Granada</wicri:noCountry></affiliation></author><author><name sortKey="Martinez, Armando" sort="Martinez, Armando" uniqKey="Martinez A" first="Armando" last="Martínez">Armando Martínez</name><affiliation wicri:level="1"><mods:affiliation>Hospital Clínico Universitario S. Carlos, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Hospital Clínico Universitario S. Carlos, Madrid</wicri:regionArea></affiliation><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="Gonzalo, Isabel" sort="Gonzalo, Isabel" uniqKey="Gonzalo I" first="Isabel" last="Gonzalo">Isabel Gonzalo</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="Lidice" last="Vidal">Lidice 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="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="Gomez Ortosa, Estrella" sort="Gomez Ortosa, Estrella" uniqKey="Gomez Ortosa E" first="Estrella" last="Gomez-Tortosa">Estrella Gomez-Tortosa</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, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Madrid</wicri:regionArea></affiliation></author><author><name sortKey="Rabano, Alberto" sort="Rabano, Alberto" uniqKey="Rabano A" first="Alberto" last="Rabano">Alberto Rabano</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="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="Sanchez, Marina" sort="Sanchez, Marina" uniqKey="Sanchez M" first="Marina" last="Sánchez">Marina Sánchez</name><affiliation wicri:level="1"><mods:affiliation>Fundación Jiménez Díaz, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, 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="Garcia De Yebenes, Justo" sort="Garcia De Yebenes, Justo" uniqKey="Garcia De Yebenes J" first="Justo" last="García De Yébenes">Justo García De Yébenes</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, Madrid, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Madrid</wicri:regionArea></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>New York</pubPlace><date type="published" when="2002-11">2002-11</date><biblScope unit="vol">17</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="1374">1374</biblScope><biblScope unit="page" to="1380">1380</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">F816579612BEC0385B1DBDBD3FC09F70A0696EED</idno><idno type="DOI">10.1002/mds.10264</idno><idno type="ArticleID">MDS10264</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Steele‐Richardson‐Olszewski syndrome</term><term>parkin</term><term>tau gene</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Steele‐Richardson‐Olszewski syndrome (SROS) is a neurodegenerative disorder of unknown aetiology, most frequently sporadic. Familial cases of SROS have been described. An intronic polymorphism of the tau gene is associated with sporadic SROS and mutations of the tau gene are present in atypical cases of SROS. The role of tau has been excluded in other families with pathology proven SROS, suggesting that this syndrome may have multiple causes. An 82‐year‐old patient, father of 3 children with autosomal recessive juvenile parkinsonism due to combined heterozygous mutations of the parkin gene, developed clinical features of SROS 2 years before death. The diagnosis was confirmed by pathology. He carried the C212Y mutation of the parkin gene and was homozygous for the A0 polymorphism and for the H1 haplotype. The role of parkin in the processing of tau is discussed. © 2002 Movement Disorder Society</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/MovDisordV3/Data/Istex/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000F31 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Curation/biblio.hfd -nk 000F31 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= MovDisordV3
|flux= Istex
|étape= Curation
|type= RBID
|clé= ISTEX:F816579612BEC0385B1DBDBD3FC09F70A0696EED
|texte= Steele‐Richardson‐Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein
}}
| This area was generated with Dilib version V0.6.23. |  |