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Two sisters with generalized dystonia associated with homocystinuria

✍ Scribed by Dr. A. Berardelli; P. D. Thompson; M. Zaccagnini; O. Giardini; P. D'Eufemia; R. Massoud; M. Manfredi


Publisher
John Wiley and Sons
Year
1991
Tongue
English
Weight
416 KB
Volume
6
Category
Article
ISSN
0885-3185

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✦ Synopsis


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.


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