Possible sporadic rapid-onset dystonia-parkinsonism
Identifieur interne : 002727 ( PascalFrancis/Corpus ); précédent : 002726; suivant : 002728Possible sporadic rapid-onset dystonia-parkinsonism
Auteurs : Gurutz Linazasoro ; Begona Indakoetxea ; Javier Ruiz ; Nadege Van Blercom ; Asier LasaSource :
- Movement disorders [ 0885-3185 ] ; 2002.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
Rapid-onset dystonia-parkinsonism is a hereditary disease characterized by a combination of dystonic and parkinsonian symptoms. Bulbar musculature is predominantly affected by dystonia. The onset is usually abrupt and the progression of the disease over years is minimal or absent. Homovanillic acid levels in cerebrospinal fluid can be diminished, suggesting that the pathogenesis of the disease is related to some dysfunction in dopaminergic neurotransmission. However, no abnormality has been found in positron emission tomography studies and levodopa does not improve symptoms. The genetic abnormality is not known, but evidence for linkage to markers on chromosome 19q13 has been reported. We describe the case of a woman with a clinical picture highly suggestive of rapid onset dystonia-parkinsonism (RDP) and no family history of the disease.
Notice en format standard (ISO 2709)
Pour connaître la documentation sur le format Inist Standard.
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Format Inist (serveur)
NO : | PASCAL 02-0369777 INIST |
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ET : | Possible sporadic rapid-onset dystonia-parkinsonism |
AU : | LINAZASORO (Gurutz); INDAKOETXEA (Begona); RUIZ (Javier); VAN BLERCOM (Nadege); LASA (Asier) |
AF : | Centro de Neurologia y Neurocirugia, Clinica Quirön/San Sebastián/Espagne (1 aut., 4 aut., 5 aut.); Servicio de Neurologia, Hospital Aranzaxzu/San Sebastián/Espagne (2 aut.); Servicio de Neurologia, Hospital de Mendaro/San Sebastián/Espagne (3 aut.) |
DT : | Publication en série; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2002; Vol. 17; No. 3; Pp. 608-609; Bibl. 12 ref. |
LA : | Anglais |
EA : | Rapid-onset dystonia-parkinsonism is a hereditary disease characterized by a combination of dystonic and parkinsonian symptoms. Bulbar musculature is predominantly affected by dystonia. The onset is usually abrupt and the progression of the disease over years is minimal or absent. Homovanillic acid levels in cerebrospinal fluid can be diminished, suggesting that the pathogenesis of the disease is related to some dysfunction in dopaminergic neurotransmission. However, no abnormality has been found in positron emission tomography studies and levodopa does not improve symptoms. The genetic abnormality is not known, but evidence for linkage to markers on chromosome 19q13 has been reported. We describe the case of a woman with a clinical picture highly suggestive of rapid onset dystonia-parkinsonism (RDP) and no family history of the disease. |
CC : | 002B17A01 |
FD : | Parkinsonisme; Dystonie; Antécédent; Temps établissement; Sporadique; Etude cas; Diagnostic; Adulte; Femelle |
FG : | Homme; Maladie héréditaire; Système nerveux central pathologie; Encéphale pathologie; Muscle strié pathologie; Système nerveux pathologie; Trouble neurologique; Mouvement involontaire; Extrapyramidal syndrome |
ED : | Parkinsonism; Dystonia; Antecedent; Onset time; Sporadic; Case study; Diagnosis; Adult; Female |
EG : | Human; Genetic disease; Central nervous system disease; Cerebral disorder; Striated muscle disease; Nervous system diseases; Neurological disorder; Involuntary movement; Extrapyramidal syndrome |
SD : | Parkinson síndrome; Distonía; Antecedente; Tiempo establecimiento; Esporádico; Estudio caso; Diagnóstico; Adulto; Hembra |
LO : | INIST-20953.354000108224770310 |
ID : | 02-0369777 |
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Pascal:02-0369777Le document en format XML
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<front><div type="abstract" xml:lang="en">Rapid-onset dystonia-parkinsonism is a hereditary disease characterized by a combination of dystonic and parkinsonian symptoms. Bulbar musculature is predominantly affected by dystonia. The onset is usually abrupt and the progression of the disease over years is minimal or absent. Homovanillic acid levels in cerebrospinal fluid can be diminished, suggesting that the pathogenesis of the disease is related to some dysfunction in dopaminergic neurotransmission. However, no abnormality has been found in positron emission tomography studies and levodopa does not improve symptoms. The genetic abnormality is not known, but evidence for linkage to markers on chromosome 19q13 has been reported. We describe the case of a woman with a clinical picture highly suggestive of rapid onset dystonia-parkinsonism (RDP) and no family history of the disease.</div>
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<server><NO>PASCAL 02-0369777 INIST</NO>
<ET>Possible sporadic rapid-onset dystonia-parkinsonism</ET>
<AU>LINAZASORO (Gurutz); INDAKOETXEA (Begona); RUIZ (Javier); VAN BLERCOM (Nadege); LASA (Asier)</AU>
<AF>Centro de Neurologia y Neurocirugia, Clinica Quirön/San Sebastián/Espagne (1 aut., 4 aut., 5 aut.); Servicio de Neurologia, Hospital Aranzaxzu/San Sebastián/Espagne (2 aut.); Servicio de Neurologia, Hospital de Mendaro/San Sebastián/Espagne (3 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2002; Vol. 17; No. 3; Pp. 608-609; Bibl. 12 ref.</SO>
<LA>Anglais</LA>
<EA>Rapid-onset dystonia-parkinsonism is a hereditary disease characterized by a combination of dystonic and parkinsonian symptoms. Bulbar musculature is predominantly affected by dystonia. The onset is usually abrupt and the progression of the disease over years is minimal or absent. Homovanillic acid levels in cerebrospinal fluid can be diminished, suggesting that the pathogenesis of the disease is related to some dysfunction in dopaminergic neurotransmission. However, no abnormality has been found in positron emission tomography studies and levodopa does not improve symptoms. The genetic abnormality is not known, but evidence for linkage to markers on chromosome 19q13 has been reported. We describe the case of a woman with a clinical picture highly suggestive of rapid onset dystonia-parkinsonism (RDP) and no family history of the disease.</EA>
<CC>002B17A01</CC>
<FD>Parkinsonisme; Dystonie; Antécédent; Temps établissement; Sporadique; Etude cas; Diagnostic; Adulte; Femelle</FD>
<FG>Homme; Maladie héréditaire; Système nerveux central pathologie; Encéphale pathologie; Muscle strié pathologie; Système nerveux pathologie; Trouble neurologique; Mouvement involontaire; Extrapyramidal syndrome</FG>
<ED>Parkinsonism; Dystonia; Antecedent; Onset time; Sporadic; Case study; Diagnosis; Adult; Female</ED>
<EG>Human; Genetic disease; Central nervous system disease; Cerebral disorder; Striated muscle disease; Nervous system diseases; Neurological disorder; Involuntary movement; Extrapyramidal syndrome</EG>
<SD>Parkinson síndrome; Distonía; Antecedente; Tiempo establecimiento; Esporádico; Estudio caso; Diagnóstico; Adulto; Hembra</SD>
<LO>INIST-20953.354000108224770310</LO>
<ID>02-0369777</ID>
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