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Dopa‐responsive dystonia and early‐onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
Author(s) -
Hjermind Lena Elisabeth,
Johannsen Lis Gitte,
Blau Nenad,
Wevers Ron Allan,
Lucking ChristophBurkhard,
Hertz Jens Michael,
Friberg Lars,
Regeur Lisbeth,
Nielsen Jørgen Erik,
Sørensen Sven Asger
Publication year - 2006
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.20773
Subject(s) - dystonia , medicine , parkinson's disease , gtp cyclohydrolase i , degenerative disease , neuroscience , central nervous system disease , neurology , disease , psychology , nitric oxide synthase , nitric oxide , tetrahydrobiopterin
Abstract We describe a patient with a combination of dystonic and parkinsonian signs. Paraclinical studies revealed a mutation in the GTP cyclohydrolase I gene ( GCH1 ) and a decrease in [ 123 I]‐N‐ω‐fluoropropyl‐2β‐carbomethoxy‐3β‐(4‐iodophenyl) nortropane ( 123 I‐FP‐CIT) binding ratios indicative of Parkinson's disease. We conclude that the patient probably suffers from a variant of dopa‐responsive dystonia (DRD) or two separate movement disorders, normally considered to be differential diagnoses, DRD and early‐onset Parkinson's disease with resulting difficulties concerning treatment and prognosis. © 2005 Movement Disorder Society