期刊
MOVEMENT DISORDERS
卷 23, 期 9, 页码 1297-1300出版社
WILEY
DOI: 10.1002/mds.21786
关键词
cerebrospinal fluid; dopamine; Lesch-Nyhan disease; lumbar puncture; monoamines; neurotransmitter
Lesch-Nyhan disease (LND) is a hereditary disorder of purine metabolism causing severe neurobehavioral disturbances in which an abnormal central nervous system dopaminergic function has been implied. However, levodopa treatment has rarely been used, and reports describe heterogeneous responses. We report an LND patient with low dopamine metabolite values in cerebrospinal fluid for whom early levodopa/carbidopa therapy was begun with a notable clinical improvement. We propose that very early treatment of LND patients with levodopa may improve their neurological symptoms and may contribute to a better outcome. (C) 2008 Movement Disorder Society.
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