Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein.
Identifieur interne : 000960 ( Ncbi/Checkpoint ); précédent : 000959; suivant : 000961Steele-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
Affiliations:
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pubmed:12465088Le document en format XML
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<author><name sortKey="Martinez, Armando" sort="Martinez, Armando" uniqKey="Martinez A" first="Armando" last="Martínez">Armando Martínez</name>
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<author><name sortKey="Gonzalo, Isabel" sort="Gonzalo, Isabel" uniqKey="Gonzalo I" first="Isabel" last="Gonzalo">Isabel Gonzalo</name>
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<author><name sortKey="Vidal, Lidice" sort="Vidal, Lidice" uniqKey="Vidal L" first="Lidice" last="Vidal">Lidice Vidal</name>
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<author><name sortKey="Ros, Raquel" sort="Ros, Raquel" uniqKey="Ros R" first="Raquel" last="Ros">Raquel Ros</name>
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<author><name sortKey="Gomez Tortosa, Estrella" sort="Gomez Tortosa, Estrella" uniqKey="Gomez Tortosa E" first="Estrella" last="Gomez-Tortosa">Estrella Gomez-Tortosa</name>
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<author><name sortKey="Rabano, Alberto" sort="Rabano, Alberto" uniqKey="Rabano A" first="Alberto" last="Rabano">Alberto Rabano</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en">Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein.</title>
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<author><name sortKey="Vidal, Lidice" sort="Vidal, Lidice" uniqKey="Vidal L" first="Lidice" last="Vidal">Lidice Vidal</name>
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<author><name sortKey="Ros, Raquel" sort="Ros, Raquel" uniqKey="Ros R" first="Raquel" last="Ros">Raquel Ros</name>
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<author><name sortKey="Gomez Tortosa, Estrella" sort="Gomez Tortosa, Estrella" uniqKey="Gomez Tortosa E" first="Estrella" last="Gomez-Tortosa">Estrella Gomez-Tortosa</name>
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<author><name sortKey="Hoenicka, Janet" sort="Hoenicka, Janet" uniqKey="Hoenicka J" first="Janet" last="Hoenicka">Janet Hoenicka</name>
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<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>
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<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
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<term>Mutation (genetics)</term>
<term>Neurologic Examination</term>
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<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>
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<term>Aged, 80 and over</term>
<term>DNA Mutational Analysis</term>
<term>Humans</term>
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<term>Neurologic Examination</term>
<term>Ubiquitin-Protein Ligases</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 H1 haplotype. The role of parkin in the processing of tau is discussed.</div>
</front>
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<affiliations><list></list>
<tree><noCountry><name sortKey="Ampuero, Israel" sort="Ampuero, Israel" uniqKey="Ampuero I" first="Israel" last="Ampuero">Israel Ampuero</name>
<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>
<name sortKey="Gomez Tortosa, Estrella" sort="Gomez Tortosa, Estrella" uniqKey="Gomez Tortosa E" first="Estrella" last="Gomez-Tortosa">Estrella Gomez-Tortosa</name>
<name sortKey="Gonzalo, Isabel" sort="Gonzalo, Isabel" uniqKey="Gonzalo I" first="Isabel" last="Gonzalo">Isabel Gonzalo</name>
<name sortKey="Hoenicka, Janet" sort="Hoenicka, Janet" uniqKey="Hoenicka J" first="Janet" last="Hoenicka">Janet Hoenicka</name>
<name sortKey="Martinez, Armando" sort="Martinez, Armando" uniqKey="Martinez A" first="Armando" last="Martínez">Armando Martínez</name>
<name sortKey="Morales, Blas" sort="Morales, Blas" uniqKey="Morales B" first="Blas" last="Morales">Blas Morales</name>
<name sortKey="Rabano, Alberto" sort="Rabano, Alberto" uniqKey="Rabano A" first="Alberto" last="Rabano">Alberto Rabano</name>
<name sortKey="Ros, Raquel" sort="Ros, Raquel" uniqKey="Ros R" first="Raquel" last="Ros">Raquel Ros</name>
<name sortKey="Sanchez, Marina" sort="Sanchez, Marina" uniqKey="Sanchez M" first="Marina" last="Sánchez">Marina Sánchez</name>
<name sortKey="Vidal, Lidice" sort="Vidal, Lidice" uniqKey="Vidal L" first="Lidice" last="Vidal">Lidice Vidal</name>
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