Neurological manifestations of homocystinuria.
Six cases of homocystinuria with different clinical manifestations are described. Two of these patients presented with vascular problems, two had proximal muscle weakness, one each had cerebellar ataxia and psychiatric manifestations. Biochemical defects and the pathological mechanisms in different types of homocystinurias are reviewed.
Bhaskaran
R
R
Nair
K R
KR
D000328:Adult; D001927:Brain Diseases / Q000209:etiology; D006712:Homocystinuria / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000209:etiology*; D009468:Neuromuscular Diseases / Q000209:etiology