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

Autor: Hjermind LE; Department of Medical Genetics, The Panum Institute, University of Copenhagen, and Department of Neurology, Rigshospitalet, Copenhagen, Denmark. lena@imbg.ku.dk, Johannsen LG, Blau N, Wevers RA, Lucking CB, Hertz JM, Friberg L, Regeur L, Nielsen JE, Sørensen SA
Jazyk: angličtina
Zdroj: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2006 May; Vol. 21 (5), pp. 679-82.
DOI: 10.1002/mds.20773
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.
(Copyright (c) 2005 Movement Disorder Society.)
Databáze: MEDLINE
Externí odkaz: