Two sisters with generalized dystonia associated with homocystinuria.
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.
Berardelli
A
A
Department of Neurological Sciences, University of Rome La Sapienza, Italy.
Thompson
P D
PD
Zaccagnini
M
M
Giardini
O
O
D'Eufemia
P
P
Massoud
R
R
Manfredi
M
M
D000328:Adult; D000596:Amino Acids / Q000652:urine; D001284:Atrophy; D001479:Basal Ganglia / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002648:Child; D004421:Dystonia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006712:Homocystinuria / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D009460:Neurologic Examination
D000596:Amino Acids