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.
Ekinci
Burçak
B
Istanbul University, Cerrahpasa Medical School, Department of Neurology, Movement Disorders Unit, 34098 Istanbul, Turkey.
Apaydin
Hulya
H
Vural
Melih
M
Ozekmekçi
Sibel
S
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