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Levodopa therapy in a Lesch‐Nyhan disease patient: Pathological, biochemical, neuroimaging, and therapeutic remarks
Author(s) -
Serrano Mercedes,
PérezDueñas Belen,
Ormazábal Aida,
Artuch Rafael,
Campistol Jaume,
Torres Rosa J.,
GarcíaCazorla Angels
Publication year - 2008
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.21786
Subject(s) - levodopa , carbidopa , medicine , disease , dopaminergic , neuroimaging , dopamine , pathological , lesch–nyhan syndrome , central nervous system disease , psychology , neuroscience , pediatrics , parkinson's disease , psychiatry , hypoxanthine guanine phosphoribosyltransferase , biochemistry , chemistry , mutant , gene
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. © 2008 Movement Disorder Society