Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?

Lena Elisabeth Hjermind, Lis Gitte Johannsen, Nenad Blau, Ron Allan Wevers, Christoph-Burkhard Lucking, Jens Michael Hertz, Lars Friberg, Lisbeth Regeur, Jørgen Erik Nielsen, Sven Asger Sørensen

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Abstrakt

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.
OriginalsprogEngelsk
TidsskriftMovement Disorders
Vol/bind21
Udgave nummer5
Sider (fra-til)679-82
Antal sider4
ISSN0885-3185
DOI
StatusUdgivet - 2006

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