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
Two siblings with homocystinuria presenting with dystonia and parkinsonism
✍ Scribed by Burçak Ekinci; Hulya Apaydin; Melih Vural; Sibel Özekmekçi
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 116 KB
- Volume
- 19
- Category
- Article
- ISSN
- 0885-3185
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✦ Synopsis
Abstract
Movement disorders such as dystonia, chorea or tremor are rarely encountered in patients with homocystinuria. We present 2 siblings with laboratory‐confirmed homocystinuria, one with severe generalized dystonia and the other with mild parkinsonism. The movement disorders in our patients appeared in the second and first decades, respectively. © 2004 Movement Disorder Society
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