Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
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 [123I]-N-omega-fluoropropyl-2beta-carbomethoxy-3beta-(4-iodophenyl) nortropane (123I-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.
Hjermind
Lena Elisabeth
LE
Department of Medical Genetics, The Panum Institute, University of Copenhagen, and Department of Neurology, Rigshospitalet, Copenhagen, Denmark. lena@imbg.ku.dk
Johannsen
Lis Gitte
LG
Blau
Nenad
N
Wevers
Ron Allan
RA
Lucking
Christoph-Burkhard
CB
Hertz
Jens Michael
JM
Friberg
Lars
L
Regeur
Lisbeth
L
Nielsen
Jørgen Erik
JE
Sørensen
Sven Asger
SA
D000328:Adult; D000544:Alzheimer Disease / Q000150:complications / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics*; D000978:Antiparkinson Agents / Q000627:therapeutic use*; D004252:DNA Mutational Analysis / Q000379:methods; D004421:Dystonia / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000235:genetics*; D005192:Family Health; D006136:GTP Cyclohydrolase / Q000172:deficiency* / Q000235:genetics; D006801:Humans; D007456:Iodine Isotopes / Q000493:pharmacokinetics; D007980:Levodopa / Q000627:therapeutic use*; D008297:Male; D009154:Mutation; D015899:Tomography, Emission-Computed, Single-Photon / Q000379:methods; D014326:Tropanes / Q000493:pharmacokinetics
D000978:Antiparkinson Agents; D007456:Iodine Isotopes; D014326:Tropanes; C087552:2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane; D007980:Levodopa; D006136:GTP Cyclohydrolase