Steele‐Richardson‐Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein
Identifieur interne : 004285 ( Main/Curation ); précédent : 004284; suivant : 004286Steele‐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.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
- KwdEn :
- Aged, Aged, 80 and over, Brain (pathology), Case study, Central nervous system, DNA Mutational Analysis, Degenerative disease, Genetics, Haplotypes (genetics), Human, Humans, Ligases (genetics), Male, Mutation (genetics), Neurologic Examination, Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Parkinsonian Disorders (pathology), Pathology, Pathophysiology, Polymorphism, Steele‐Richardson‐Olszewski syndrome, Supranuclear Palsy, Progressive (diagnosis), Supranuclear Palsy, Progressive (genetics), Supranuclear Palsy, Progressive (pathology), Tau protein, Ubiquitin-Protein Ligases, parkin, tau Proteins (genetics), tau gene.
- MESH :
- chemical , genetics : Ligases, tau Proteins.
- diagnosis : Parkinsonian Disorders, Supranuclear Palsy, Progressive.
- genetics : Haplotypes, Mutation, Parkinsonian Disorders, Supranuclear Palsy, Progressive.
- pathology : Brain, Parkinsonian Disorders, Supranuclear Palsy, Progressive.
- Aged, Aged, 80 and over, DNA Mutational Analysis, Humans, Male, Neurologic Examination, Ubiquitin-Protein Ligases.
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
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Madrid</region></placeName></affiliation></author><author><name sortKey="Ampuero, Israel" sort="Ampuero, Israel" uniqKey="Ampuero I" first="Israel" last="Ampuero">Israel Ampuero</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Sanchez, Marina" sort="Sanchez, Marina" uniqKey="Sanchez M" first="Marina" last="Sánchez">Marina Sánchez</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Hoenicka, Janet" sort="Hoenicka, Janet" uniqKey="Hoenicka J" first="Janet" last="Hoenicka">Janet Hoenicka</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></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="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Madrid</wicri:regionArea><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">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>Aged</term><term>Aged, 80 and over</term><term>Brain (pathology)</term><term>Case study</term><term>Central nervous system</term><term>DNA Mutational Analysis</term><term>Degenerative disease</term><term>Genetics</term><term>Haplotypes (genetics)</term><term>Human</term><term>Humans</term><term>Ligases (genetics)</term><term>Male</term><term>Mutation (genetics)</term><term>Neurologic Examination</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonian Disorders (pathology)</term><term>Pathology</term><term>Pathophysiology</term><term>Polymorphism</term><term>Steele‐Richardson‐Olszewski syndrome</term><term>Supranuclear Palsy, Progressive (diagnosis)</term><term>Supranuclear Palsy, Progressive (genetics)</term><term>Supranuclear Palsy, Progressive (pathology)</term><term>Tau protein</term><term>Ubiquitin-Protein Ligases</term><term>parkin</term><term>tau Proteins (genetics)</term><term>tau gene</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ligases</term><term>tau Proteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinsonian Disorders</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Haplotypes</term><term>Mutation</term><term>Parkinsonian Disorders</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Parkinsonian Disorders</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Aged, 80 and over</term><term>DNA Mutational Analysis</term><term>Humans</term><term>Male</term><term>Neurologic Examination</term><term>Ubiquitin-Protein Ligases</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Anatomopathologie</term><term>Etude cas</term><term>Génétique</term><term>Homme</term><term>Maladie dégénérative</term><term>Parkine</term><term>Physiopathologie</term><term>Polymorphisme</term><term>Protéine tau</term><term>Steele-Richardson-Olszewski syndrome</term><term>Système nerveux central</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term><term>Homme</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><double idat="0885-3185:2002:Morales B:steele:richardson:olszewski"><INIST><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">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 wicri:level="1"><inist:fA14 i1="01"><s1>Hospital Universitario, San Cecilio</s1><s2>Granada</s2><s3>ESP</s3><sZ>1 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Granada</wicri:noRegion></affiliation></author><author><name sortKey="Martinez, Armando" sort="Martinez, Armando" uniqKey="Martinez A" first="Armando" last="Martinez">Armando Martinez</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Hospital Clínico Universitario S. Carlos</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Banco de Tejidos para Investigaciones Neurológicas</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Gonzalo, Isabel" sort="Gonzalo, Isabel" uniqKey="Gonzalo I" first="Isabel" last="Gonzalo">Isabel Gonzalo</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Banco de Tejidos para Investigaciones Neurológicas</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Vidal, Lidice" sort="Vidal, Lidice" uniqKey="Vidal L" first="Lidice" last="Vidal">Lidice Vidal</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Banco de Tejidos para Investigaciones Neurológicas</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Ros, Raquel" sort="Ros, Raquel" uniqKey="Ros R" first="Raquel" last="Ros">Raquel Ros</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Banco de Tejidos para Investigaciones Neurológicas</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Gomez Tortosa, Estrella" sort="Gomez Tortosa, Estrella" uniqKey="Gomez Tortosa E" first="Estrella" last="Gomez-Tortosa">Estrella Gomez-Tortosa</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Banco de Tejidos para Investigaciones Neurológicas</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Fundación Jiménez Díaz</s1><s2>Madrid</s2><s3>ESP</s3><sZ>6 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Rabano, Alberto" sort="Rabano, Alberto" uniqKey="Rabano A" first="Alberto" last="Rabano">Alberto Rabano</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Banco de Tejidos para Investigaciones Neurológicas</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Ampuero, Israel" sort="Ampuero, Israel" uniqKey="Ampuero I" first="Israel" last="Ampuero">Israel Ampuero</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Banco de Tejidos para Investigaciones Neurológicas</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Sanchez, Marina" sort="Sanchez, Marina" uniqKey="Sanchez M" first="Marina" last="Sanchez">Marina Sanchez</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Fundación Jiménez Díaz</s1><s2>Madrid</s2><s3>ESP</s3><sZ>6 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Hoenicka, Janet" sort="Hoenicka, Janet" uniqKey="Hoenicka J" first="Janet" last="Hoenicka">Janet Hoenicka</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Banco de Tejidos para Investigaciones Neurológicas</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Garcia De Yebenes, Justo" sort="Garcia De Yebenes, Justo" uniqKey="Garcia De Yebenes J" first="Justo" last="Garcia De Yebenes">Justo Garcia De Yebenes</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Banco de Tejidos para Investigaciones Neurológicas</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Fundación Jiménez Díaz</s1><s2>Madrid</s2><s3>ESP</s3><sZ>6 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">03-0040641</idno><date when="2002">2002</date><idno type="stanalyst">PASCAL 03-0040641 INIST</idno><idno type="RBID">Pascal:03-0040641</idno><idno type="wicri:Area/PascalFrancis/Corpus">002571</idno><idno type="wicri:Area/PascalFrancis/Curation">000750</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">002606</idno><idno type="wicri:doubleKey">0885-3185:2002:Morales B:steele:richardson:olszewski</idno><idno type="wicri:Area/Main/Merge">006645</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">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 wicri:level="1"><inist:fA14 i1="01"><s1>Hospital Universitario, San Cecilio</s1><s2>Granada</s2><s3>ESP</s3><sZ>1 aut.</sZ></inist:fA14><country>Espagne</country><wicri:noRegion>Granada</wicri:noRegion></affiliation></author><author><name sortKey="Martinez, Armando" sort="Martinez, Armando" uniqKey="Martinez A" first="Armando" last="Martinez">Armando Martinez</name><affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Hospital Clínico Universitario S. Carlos</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Banco de Tejidos para Investigaciones Neurológicas</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Gonzalo, Isabel" sort="Gonzalo, Isabel" uniqKey="Gonzalo I" first="Isabel" last="Gonzalo">Isabel Gonzalo</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Banco de Tejidos para Investigaciones Neurológicas</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Vidal, Lidice" sort="Vidal, Lidice" uniqKey="Vidal L" first="Lidice" last="Vidal">Lidice Vidal</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Banco de Tejidos para Investigaciones Neurológicas</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Ros, Raquel" sort="Ros, Raquel" uniqKey="Ros R" first="Raquel" last="Ros">Raquel Ros</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Banco de Tejidos para Investigaciones Neurológicas</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Gomez Tortosa, Estrella" sort="Gomez Tortosa, Estrella" uniqKey="Gomez Tortosa E" first="Estrella" last="Gomez-Tortosa">Estrella Gomez-Tortosa</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Banco de Tejidos para Investigaciones Neurológicas</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Fundación Jiménez Díaz</s1><s2>Madrid</s2><s3>ESP</s3><sZ>6 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Rabano, Alberto" sort="Rabano, Alberto" uniqKey="Rabano A" first="Alberto" last="Rabano">Alberto Rabano</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Banco de Tejidos para Investigaciones Neurológicas</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Ampuero, Israel" sort="Ampuero, Israel" uniqKey="Ampuero I" first="Israel" last="Ampuero">Israel Ampuero</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Banco de Tejidos para Investigaciones Neurológicas</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Sanchez, Marina" sort="Sanchez, Marina" uniqKey="Sanchez M" first="Marina" last="Sanchez">Marina Sanchez</name><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Fundación Jiménez Díaz</s1><s2>Madrid</s2><s3>ESP</s3><sZ>6 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Hoenicka, Janet" sort="Hoenicka, Janet" uniqKey="Hoenicka J" first="Janet" last="Hoenicka">Janet Hoenicka</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Banco de Tejidos para Investigaciones Neurológicas</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Garcia De Yebenes, Justo" sort="Garcia De Yebenes, Justo" uniqKey="Garcia De Yebenes J" first="Justo" last="Garcia De Yebenes">Justo Garcia De Yebenes</name><affiliation wicri:level="3"><inist:fA14 i1="03"><s1>Banco de Tejidos para Investigaciones Neurológicas</s1><s2>Madrid</s2><s3>ESP</s3><sZ>2 aut.</sZ><sZ>3 aut.</sZ><sZ>4 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>7 aut.</sZ><sZ>8 aut.</sZ><sZ>10 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="04"><s1>Fundación Jiménez Díaz</s1><s2>Madrid</s2><s3>ESP</s3><sZ>6 aut.</sZ><sZ>9 aut.</sZ><sZ>11 aut.</sZ></inist:fA14><country>Espagne</country><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author></analytic><series><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno><imprint><date when="2002">2002</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Movement disorders</title><title level="j" type="abbreviated">Mov. disord.</title><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Case study</term><term>Central nervous system</term><term>Degenerative disease</term><term>Genetics</term><term>Human</term><term>Pathology</term><term>Pathophysiology</term><term>Polymorphism</term><term>Tau protein</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Maladie dégénérative</term><term>Système nerveux central</term><term>Anatomopathologie</term><term>Polymorphisme</term><term>Génétique</term><term>Protéine tau</term><term>Etude cas</term><term>Physiopathologie</term><term>Homme</term><term>Steele-Richardson-Olszewski syndrome</term><term>Parkine</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term><term>Homme</term></keywords></textClass></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 H 1 haplotype. The role of parkin in the processing of tau is discussed.</div></front></TEI></INIST><ISTEX><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></author><author><name sortKey="Martinez, Armando" sort="Martinez, Armando" uniqKey="Martinez A" first="Armando" last="Martínez">Armando Martínez</name></author><author><name sortKey="Gonzalo, Isabel" sort="Gonzalo, Isabel" uniqKey="Gonzalo I" first="Isabel" last="Gonzalo">Isabel Gonzalo</name></author><author><name sortKey="Vidal, Lidice" sort="Vidal, Lidice" uniqKey="Vidal L" first="Lidice" last="Vidal">Lidice Vidal</name></author><author><name sortKey="Ros, Raquel" sort="Ros, Raquel" uniqKey="Ros R" first="Raquel" last="Ros">Raquel Ros</name></author><author><name sortKey="Gomez Ortosa, Estrella" sort="Gomez Ortosa, Estrella" uniqKey="Gomez Ortosa E" first="Estrella" last="Gomez-Tortosa">Estrella Gomez-Tortosa</name></author><author><name sortKey="Rabano, Alberto" sort="Rabano, Alberto" uniqKey="Rabano A" first="Alberto" last="Rabano">Alberto Rabano</name></author><author><name sortKey="Ampuero, Israel" sort="Ampuero, Israel" uniqKey="Ampuero I" first="Israel" last="Ampuero">Israel Ampuero</name></author><author><name sortKey="Sanchez, Marina" sort="Sanchez, Marina" uniqKey="Sanchez M" first="Marina" last="Sánchez">Marina Sánchez</name></author><author><name sortKey="Hoenicka, Janet" sort="Hoenicka, Janet" uniqKey="Hoenicka J" first="Janet" last="Hoenicka">Janet Hoenicka</name></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></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><idno type="wicri:Area/Istex/Checkpoint">002B76</idno><idno type="wicri:doubleKey">0885-3185:2002:Morales B:steele:richardson:olszewski</idno><idno type="wicri:source">PubMed</idno><idno type="RBID">pubmed:12465088</idno><idno type="wicri:Area/PubMed/Corpus">003891</idno><idno type="wicri:Area/PubMed/Curation">003891</idno><idno type="wicri:Area/PubMed/Checkpoint">003931</idno><idno type="wicri:Area/Ncbi/Merge">000960</idno><idno type="wicri:Area/Ncbi/Curation">000960</idno><idno type="wicri:Area/Ncbi/Checkpoint">000960</idno><idno type="wicri:doubleKey">0885-3185:2002:Morales B:steele:richardson:olszewski</idno><idno type="wicri:Area/Main/Merge">006290</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><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="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Hospital Clínico Universitario S. Carlos, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Gonzalo, Isabel" sort="Gonzalo, Isabel" uniqKey="Gonzalo I" first="Isabel" last="Gonzalo">Isabel Gonzalo</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Vidal, Lidice" sort="Vidal, Lidice" uniqKey="Vidal L" first="Lidice" last="Vidal">Lidice Vidal</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Ros, Raquel" sort="Ros, Raquel" uniqKey="Ros R" first="Raquel" last="Ros">Raquel Ros</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></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="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Rabano, Alberto" sort="Rabano, Alberto" uniqKey="Rabano A" first="Alberto" last="Rabano">Alberto Rabano</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Ampuero, Israel" sort="Ampuero, Israel" uniqKey="Ampuero I" first="Israel" last="Ampuero">Israel Ampuero</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Sanchez, Marina" sort="Sanchez, Marina" uniqKey="Sanchez M" first="Marina" last="Sánchez">Marina Sánchez</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation></author><author><name sortKey="Hoenicka, Janet" sort="Hoenicka, Janet" uniqKey="Hoenicka J" first="Janet" last="Hoenicka">Janet Hoenicka</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></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="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Banco de Tejidos para Investigaciones Neurológicas, Madrid</wicri:regionArea><placeName><settlement type="city">Madrid</settlement><region nuts="2" type="region">Communauté de Madrid</region></placeName></affiliation><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Fundación Jiménez Díaz, Madrid</wicri:regionArea><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">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>Aged</term><term>Aged, 80 and over</term><term>Brain (pathology)</term><term>DNA Mutational Analysis</term><term>Haplotypes (genetics)</term><term>Humans</term><term>Ligases (genetics)</term><term>Male</term><term>Mutation (genetics)</term><term>Neurologic Examination</term><term>Parkinsonian Disorders (diagnosis)</term><term>Parkinsonian Disorders (genetics)</term><term>Parkinsonian Disorders (pathology)</term><term>Steele‐Richardson‐Olszewski syndrome</term><term>Supranuclear Palsy, Progressive (diagnosis)</term><term>Supranuclear Palsy, Progressive (genetics)</term><term>Supranuclear Palsy, Progressive (pathology)</term><term>Ubiquitin-Protein Ligases</term><term>parkin</term><term>tau Proteins (genetics)</term><term>tau gene</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Ligases</term><term>tau Proteins</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Parkinsonian Disorders</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Haplotypes</term><term>Mutation</term><term>Parkinsonian Disorders</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Brain</term><term>Parkinsonian Disorders</term><term>Supranuclear Palsy, Progressive</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Aged</term><term>Aged, 80 and over</term><term>DNA Mutational Analysis</term><term>Humans</term><term>Male</term><term>Neurologic Examination</term><term>Ubiquitin-Protein Ligases</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></ISTEX></double></record>Pour manipuler ce document sous Unix (Dilib)
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