Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein.
Identifieur interne : 003891 ( PubMed/Curation ); précédent : 003890; suivant : 003892Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein.
Auteurs : Blas Morales ; Armando Martínez ; Isabel Gonzalo ; Lidice Vidal ; Raquel Ros ; Estrella Gomez-Tortosa ; Alberto Rabano ; Israel Ampuero ; Marina Sánchez ; Janet Hoenicka ; Justo García De YébenesSource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2002.
English descriptors
- KwdEn :
- Aged, Aged, 80 and over, Brain (pathology), DNA Mutational Analysis, Haplotypes (genetics), Humans, Ligases (genetics), Male, Mutation (genetics), Neurologic Examination, Parkinsonian Disorders (diagnosis), Parkinsonian Disorders (genetics), Parkinsonian Disorders (pathology), Supranuclear Palsy, Progressive (diagnosis), Supranuclear Palsy, Progressive (genetics), Supranuclear Palsy, Progressive (pathology), Ubiquitin-Protein Ligases, tau Proteins (genetics).
- 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.
DOI: 10.1002/mds.10264
PubMed: 12465088
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Blas Morales<affiliation><nlm:affiliation>Hospital Universitario, San Cecilio, Granada.</nlm:affiliation><wicri:noCountry code="subField">Granada</wicri:noCountry></affiliation>Le document en format XML
<record><TEI><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><nlm:affiliation>Hospital Universitario, San Cecilio, Granada.</nlm: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></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 Tortosa, Estrella" sort="Gomez Tortosa, Estrella" uniqKey="Gomez Tortosa 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 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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 Tortosa, Estrella" sort="Gomez Tortosa, Estrella" uniqKey="Gomez Tortosa 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></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="ISSN">0885-3185</idno><imprint><date when="2002" type="published">2002</date></imprint></series></biblStruct></sourceDesc></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>Supranuclear Palsy, Progressive (diagnosis)</term><term>Supranuclear Palsy, Progressive (genetics)</term><term>Supranuclear Palsy, Progressive (pathology)</term><term>Ubiquitin-Protein Ligases</term><term>tau Proteins (genetics)</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></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.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">12465088</PMID><DateCreated><Year>2002</Year><Month>12</Month><Day>04</Day></DateCreated><DateCompleted><Year>2003</Year><Month>03</Month><Day>24</Day></DateCompleted><DateRevised><Year>2006</Year><Month>11</Month><Day>15</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0885-3185</ISSN><JournalIssue CitedMedium="Print"><Volume>17</Volume><Issue>6</Issue><PubDate><Year>2002</Year><Month>Nov</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. 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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.</AbstractText><CopyrightInformation>Copyright 2002 Movement Disorder Society</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Morales</LastName><ForeName>Blas</ForeName><Initials>B</Initials><AffiliationInfo><Affiliation>Hospital Universitario, San Cecilio, Granada.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Martínez</LastName><ForeName>Armando</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Gonzalo</LastName><ForeName>Isabel</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Vidal</LastName><ForeName>Lidice</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Ros</LastName><ForeName>Raquel</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Gomez-Tortosa</LastName><ForeName>Estrella</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Rabano</LastName><ForeName>Alberto</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Ampuero</LastName><ForeName>Israel</ForeName><Initials>I</Initials></Author><Author ValidYN="Y"><LastName>Sánchez</LastName><ForeName>Marina</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Hoenicka</LastName><ForeName>Janet</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>García De Yébenes</LastName><ForeName>Justo</ForeName><Initials>J</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov 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UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D004252">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006239">Haplotypes</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008025">Ligases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009460">Neurologic Examination</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D013494">Supranuclear Palsy, Progressive</DescriptorName><QualifierName MajorTopicYN="N" UI="Q000175">diagnosis</QualifierName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName><QualifierName MajorTopicYN="N" UI="Q000473">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D044767">Ubiquitin-Protein Ligases</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D016875">tau Proteins</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2002</Year><Month>12</Month><Day>5</Day><Hour>4</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2003</Year><Month>3</Month><Day>26</Day><Hour>4</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2002</Year><Month>12</Month><Day>5</Day><Hour>4</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">12465088</ArticleId><ArticleId IdType="doi">10.1002/mds.10264</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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