학술논문

Presynaptic dopaminergic deficits in Lesch-Nyhan disease
Document Type
Academic Journal
Source
The New England Journal of Medicine. June 13, 1996, Vol. v334 Issue n24, p1568, 5 p.
Subject
Lesch-Nyhan syndrome -- Physiological aspects
Dopamine -- Physiological aspects
Language
ISSN
0028-4793
Abstract
A disorder in the processing of the neurotransmitter dopamine may explain some of the neurological and behavioral aspects of Lesch-Nyhan disease. Lesch-Nyhan disease is a genetic disease characterized by abnormalities in purine metabolism. Researchers used positron-emission tomography (PET) and a labelled chemical similar to the chemical dopa to study the metabolism of dopamine in 12 patients with Lesch-Nyhan disease and 15 healthy volunteers. The labelled chemical was infused intravenously and converted in the brain to labelled dopamine. PET scans showed that the patients with Lesch-Nyhan disease had less labelled dopamine than the healthy participants. This decrease in activity occurred in all of the major areas of the brain that use dopamine. The drop in dopamine activity in these patients resembles that seen in Parkinson's patients but anti-Parkinson's drugs have not been effective in Lesch-Nyhan disease.