Two siblings with homocystinuria presenting with dystonia and parkinsonism.
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.
Istanbul University, Cerrahpasa Medical School, Department of Neurology, Movement Disorders Unit, 34098 Istanbul, Turkey.
Burçak
B
Ekinci
Hulya
H
Apaydin
Melih
M
Vural
Sibel
S
Ozekmekçi
D000328:Adult; D001921:Brain / Q000473:pathology; D004421:Dystonia / Q000209:etiology* / Q000473:pathology; D005260:Female; D006712:Homocystinuria / Q000150:complications* / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D020734:Parkinsonian Disorders / Q000209:etiology* / Q000473:pathology; D035781:Siblings