Functional and morphological deficits in late-treated patients with homocystinuria: a clinical, electrophysiologic and MRI study.

Seven late-treated patients between the ages of 10-30 years suffering from homocystinuria were examined clinically and electrophysiologically; four had MRI. The clinical examination showed extrapyramidal features and slight impairment of proprioception. Electrophysiological evaluation revealed normal results in the acoustic and central motor system; a minor, possibly vitamin B6 related, sensory neuropathy was detected by peripheral conduction studies. MR imaging showed small focal areas of gliosis in the white matter, generalized cortical atrophy in two patients, but only one small cortical infarct. No changes in the basal ganglia were detected. These results support the view that neurological signs and symptoms in patients suffering from homocystinuria are related to morphological findings, as well as pharmacological effects.