Two sisters with generalized dystonia associated with homocystinuria
Identifieur interne : 006114 ( Main/Exploration ); 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
Affiliations:
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Massoud</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Biology, Second University of Rome ‘Tor Vergata,’ Rome</wicri:regionArea><wicri:noRegion>’ Rome</wicri:noRegion></affiliation></author><author><name sortKey="Manfredi, M" sort="Manfredi, M" uniqKey="Manfredi M" first="M." last="Manfredi">M. Manfredi</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Neurological Sciences, University of Rome ‘La Sapienza,’ Rome</wicri:regionArea><wicri:noRegion>’ Rome</wicri:noRegion></affiliation></author></analytic><monogr></monogr><series><title level="j">Movement Disorders</title><title level="j" type="sub">Official Journal of the Movement Disorder Society</title><title level="j" type="abbrev">Mov. 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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></front></TEI><affiliations><list><country><li>Italie</li><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement></list><tree><country name="Italie"><noRegion><name sortKey="Berardelli" sort="Berardelli" uniqKey="Berardelli" last="Berardelli">Berardelli</name></noRegion><name sortKey="D Eufemia, P" sort="D Eufemia, P" uniqKey="D Eufemia P" first="P." last="D'Eufemia">P. D'Eufemia</name><name sortKey="Giardini, O" sort="Giardini, O" uniqKey="Giardini O" first="O." last="Giardini">O. Giardini</name><name sortKey="Manfredi, M" sort="Manfredi, M" uniqKey="Manfredi M" first="M." last="Manfredi">M. Manfredi</name><name sortKey="Massoud, R" sort="Massoud, R" uniqKey="Massoud R" first="R." last="Massoud">R. Massoud</name><name sortKey="Zaccagnini, M" sort="Zaccagnini, M" uniqKey="Zaccagnini M" first="M." last="Zaccagnini">M. Zaccagnini</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Thompson, P D" sort="Thompson, P D" uniqKey="Thompson P" first="P. D." last="Thompson">P. D. Thompson</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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