MovDisordV3, PascalFrancis, Curation, bibRecord, 000750

Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein

Identifieur interne : 000750 ( PascalFrancis/Curation ); précédent : 000749; suivant : 000751

Steele-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.

RBID : Pascal:03-0040641

Descripteurs français

Pascal (Inist)
- Maladie dégénérative, Système nerveux central, Anatomopathologie, Polymorphisme, Génétique, Protéine tau, Etude cas, Physiopathologie, Homme, Steele-Richardson-Olszewski syndrome, Parkine.
Wicri :
- topic : Génétique, Homme.

English descriptors

KwdEn :
- Case study, Central nervous system, Degenerative disease, Genetics, Human, Pathology, Pathophysiology, Polymorphism, Tau protein.

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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C01	`01`		`ENG`	@0 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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C03	`09`	`X`	`FRE`	`@0 Homme @5 20`
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Pascal:03-0040641

Le document en format XML

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<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>
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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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<author><name sortKey="Ampuero, Israel" sort="Ampuero, Israel" uniqKey="Ampuero I" first="Israel" last="Ampuero">Israel Ampuero</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="Garcia De Yebenes">Justo Garcia De Yebenes</name>
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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>
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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>
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<term>Steele-Richardson-Olszewski syndrome</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>
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<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>
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	Movement Disorders (revue)
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Movement Disorders (revue)

Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein

Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein

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