Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein
Identifieur interne : 000750 ( PascalFrancis/Curation ); précédent : 000749; suivant : 000751Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein
Auteurs : Blas Morales [Espagne] ; Armando Martinez [Espagne] ; Isabel Gonzalo [Espagne] ; Lidice Vidal [Espagne] ; Raquel Ros [Espagne] ; Estrella Gomez-Tortosa [Espagne] ; Alberto Rabano [Espagne] ; Israel Ampuero [Espagne] ; Marina Sanchez [Espagne] ; Janet Hoenicka [Espagne] ; Justo Garcia De Yebenes [Espagne]Source :
- Movement disorders [ 0885-3185 ] ; 2002.
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English descriptors
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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 H 1 haplotype. The role of parkin in the processing of tau is discussed.
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<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>
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<seriesStmt><title level="j" type="main">Movement disorders</title>
<title level="j" type="abbreviated">Mov. disord.</title>
<idno type="ISSN">0885-3185</idno>
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<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>
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<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>
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<fA11 i1="10" i2="1"><s1>HOENICKA (Janet)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>GARCIA DE YEBENES (Justo)</s1>
</fA11>
<fA14 i1="01"><s1>Hospital Universitario, San Cecilio</s1>
<s2>Granada</s2>
<s3>ESP</s3>
<sZ>1 aut.</sZ>
</fA14>
<fA14 i1="02"><s1>Hospital Clínico Universitario S. Carlos</s1>
<s2>Madrid</s2>
<s3>ESP</s3>
<sZ>2 aut.</sZ>
</fA14>
<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>
</fA14>
<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>
</fA14>
<fA20><s1>1374-1380</s1>
</fA20>
<fA21><s1>2002</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
</fA23>
<fA43 i1="01"><s1>INIST</s1>
<s2>20953</s2>
<s5>354000105559450390</s5>
</fA43>
<fA44><s0>0000</s0>
<s1>© 2003 INIST-CNRS. All rights reserved.</s1>
</fA44>
<fA45><s0>50 ref.</s0>
</fA45>
<fA47 i1="01" i2="1"><s0>03-0040641</s0>
</fA47>
<fA60><s1>P</s1>
</fA60>
<fA61><s0>A</s0>
</fA61>
<fA64 i1="01" i2="1"><s0>Movement disorders</s0>
</fA64>
<fA66 i1="01"><s0>USA</s0>
</fA66>
<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002B17G</s0>
</fC02>
<fC03 i1="01" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>01</s5>
</fC03>
<fC03 i1="01" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Système nerveux central</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Central nervous system</s0>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Sistema nervioso central</s0>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Anatomopathologie</s0>
<s5>04</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Pathology</s0>
<s5>04</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Anatomía patológica</s0>
<s5>04</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Polymorphisme</s0>
<s5>07</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Polymorphism</s0>
<s5>07</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Polimorfismo</s0>
<s5>07</s5>
</fC03>
<fC03 i1="05" i2="X" l="FRE"><s0>Génétique</s0>
<s5>08</s5>
</fC03>
<fC03 i1="05" i2="X" l="ENG"><s0>Genetics</s0>
<s5>08</s5>
</fC03>
<fC03 i1="05" i2="X" l="SPA"><s0>Genética</s0>
<s5>08</s5>
</fC03>
<fC03 i1="06" i2="X" l="FRE"><s0>Protéine tau</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="ENG"><s0>Tau protein</s0>
<s5>10</s5>
</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Proteína tau</s0>
<s5>10</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Etude cas</s0>
<s5>16</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Case study</s0>
<s5>16</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Estudio caso</s0>
<s5>16</s5>
</fC03>
<fC03 i1="08" i2="X" l="FRE"><s0>Physiopathologie</s0>
<s5>17</s5>
</fC03>
<fC03 i1="08" i2="X" l="ENG"><s0>Pathophysiology</s0>
<s5>17</s5>
</fC03>
<fC03 i1="08" i2="X" l="SPA"><s0>Fisiopatología</s0>
<s5>17</s5>
</fC03>
<fC03 i1="09" i2="X" l="FRE"><s0>Homme</s0>
<s5>20</s5>
</fC03>
<fC03 i1="09" i2="X" l="ENG"><s0>Human</s0>
<s5>20</s5>
</fC03>
<fC03 i1="09" i2="X" l="SPA"><s0>Hombre</s0>
<s5>20</s5>
</fC03>
<fC03 i1="10" i2="X" l="FRE"><s0>Steele-Richardson-Olszewski syndrome</s0>
<s2>NM</s2>
<s4>INC</s4>
<s5>86</s5>
</fC03>
<fC03 i1="11" i2="X" l="FRE"><s0>Parkine</s0>
<s4>INC</s4>
<s5>87</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Système nerveux pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Nervous system diseases</s0>
<s5>37</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>39</s5>
</fC07>
<fN21><s1>020</s1>
</fN21>
<fN82><s1>PSI</s1>
</fN82>
</pA>
</standard>
</inist>
</record>
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