Steele‐Richardson‐Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein
Identifieur interne : 004285 ( Main/Exploration ); 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
Affiliations:
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Le document en format XML
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<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>
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<term>Polymorphism</term>
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<term>Supranuclear Palsy, Progressive (genetics)</term>
<term>Supranuclear Palsy, Progressive (pathology)</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. © 2002 Movement Disorder Society</div>
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