title: Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?
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 [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.
authors.affiliation: Department of Medical Genetics, The Panum Institute, University of Copenhagen, and Department of Neurology, Rigshospitalet, Copenhagen, Denmark. lena@imbg.ku.dk
authors.forename: Lena Elisabeth
authors.initials: LE
authors.lastname: Hjermind
authors.forename: Lis Gitte
authors.initials: LG
authors.lastname: Johannsen
authors.forename: Nenad
authors.initials: N
authors.lastname: Blau
authors.forename: Ron Allan
authors.initials: RA
authors.lastname: Wevers
authors.forename: Christoph-Burkhard
authors.initials: CB
authors.lastname: Lucking
authors.forename: Jens Michael
authors.initials: JM
authors.lastname: Hertz
authors.forename: Lars
authors.initials: L
authors.lastname: Friberg
authors.forename: Lisbeth
authors.initials: L
authors.lastname: Regeur
authors.forename: Jørgen Erik
authors.initials: JE
authors.lastname: Nielsen
authors.forename: Sven Asger
authors.initials: SA
authors.lastname: Sørensen
mesh_terms: 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
chemical_list: D000978:Antiparkinson Agents; D007456:Iodine Isotopes; D014326:Tropanes; C087552:2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane; D007980:Levodopa; D006136:GTP Cyclohydrolase