Two sisters with generalized dystonia associated with homocystinuria
Identifieur interne : 006114 ( Main/Curation ); précédent : 006113; suivant : 006115Two sisters with generalized dystonia associated with homocystinuria
Auteurs : Berardelli [Italie] ; P. D. Thompson [Royaume-Uni] ; M. Zaccagnini [Italie] ; O. Giardini [Italie] ; P. D'Eufemia [Italie] ; R. Massoud [Italie] ; M. Manfredi [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 1991.
English descriptors
- KwdEn :
- MESH :
- chemical , urine : Amino Acids.
- diagnosis : Dystonia, Homocystinuria.
- genetics : Dystonia, Homocystinuria.
- pathology : Basal Ganglia, Cerebellum.
- Adult, Atrophy, Child, Female, Humans, Magnetic Resonance Imaging, Neurologic Examination.
Abstract
Two sisters with progressive dystonic syndromes and homocystinuria are presented. The biochemical defect was not accompanied by the typical clinical features of homocystinuria. Magnetic resonance imaging (MRI) revealed bilateral lesions of the basal ganglia. Homocystinuria should be considered among the causes of symptomatic or secondary dystonias associated with basal ganglia lesions.
Url:
DOI: 10.1002/mds.870060213
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ISTEX:B359FA7A74B1E659D811BD936CECD51EB11297F5Le document en format XML
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<term>Amino Acids (urine)</term>
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<term>Basal Ganglia (pathology)</term>
<term>Cerebellum (pathology)</term>
<term>Child</term>
<term>Dystonia</term>
<term>Dystonia (diagnosis)</term>
<term>Dystonia (genetics)</term>
<term>Female</term>
<term>Homocystinuria</term>
<term>Homocystinuria (diagnosis)</term>
<term>Homocystinuria (genetics)</term>
<term>Humans</term>
<term>Magnetic Resonance Imaging</term>
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<term>Homocystinuria</term>
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<term>Cerebellum</term>
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<term>Atrophy</term>
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<front><div type="abstract" xml:lang="en">Two sisters with progressive dystonic syndromes and homocystinuria are presented. The biochemical defect was not accompanied by the typical clinical features of homocystinuria. Magnetic resonance imaging (MRI) revealed bilateral lesions of the basal ganglia. Homocystinuria should be considered among the causes of symptomatic or secondary dystonias associated with basal ganglia lesions.</div>
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