Journal Article

PreJuSER-112081

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Are dopa-responsive dystonia and Parkinson's s disease related disorders? A case report

Eggers, C. ; Volk, A. E. ; Kahraman, D. ; Fink, G. R.FZJ* ; Leube, B. ; Schmidt, M. ; Timmermann, L.

2012
Elsevier Science Amsterdam [u.a.]

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Please use a persistent id in citations: doi:10.1016/j.parkreldis.2011.10.003

Abstract: L-Dopa-responsive dystonia (DRD) is a hereditary dystonia characterized by an excellent response to low dosages of levodopa. DRD patients may also develop Parkinsonism which resembles idiopathic Parkinson's disease. In classical DRD no changes in the dopaminergic uptake have been observed.A 65-year old woman presented with clinically remarkably slowly progressing Parkinson's disease (PD) without any dystonic signs and excellent response to dopaminergic medications. We obtained a [(123)I] FP-CIT-SPECT (DaTSCAN™) in order to elucidate a striatal dopaminergic deficit.We found a reduced uptake in the [(123)I] FP-CIT-SPECT (DaTSCAN™) contralateral to the more affected body side. Additionally, the patient showed a heterozygous deletion of the GHC1 gene.Patients with mild parkinsonian symptoms, excellent response to low dosages of dopaminergic drugs and a reduced dopamine-transporter uptake in [(123)I] FP-CIT-SPECT might more commonly be GCH1 mutation carriers than has previously been supposed. PD patients with a positive family history of DRD and combination of these clinical symptoms should be offered genetic counselling and testing for GCH1.

Keyword(s): Aged (MeSH) ; Antiparkinson Agents: therapeutic use (MeSH) ; Corpus Striatum: drug effects (MeSH) ; Corpus Striatum: pathology (MeSH) ; Corpus Striatum: radionuclide imaging (MeSH) ; Dystonic Disorders: genetics (MeSH) ; Dystonic Disorders: radionuclide imaging (MeSH) ; Female (MeSH) ; GTP Cyclohydrolase: genetics (MeSH) ; Humans (MeSH) ; Levodopa: therapeutic use (MeSH) ; Parkinson Disease: drug therapy (MeSH) ; Parkinson Disease: genetics (MeSH) ; Parkinson Disease: radionuclide imaging (MeSH) ; Tomography, Emission-Computed, Single-Photon (MeSH) ; Tropanes: diagnostic use (MeSH) ; Antiparkinson Agents ; Levodopa ; Tropanes ; 2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane ; GTP Cyclohydrolase

Note: Record converted from VDB: 16.11.2012

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Contributing Institute(s):

1. Kognitive Neurowissenschaften (INM-3)

Research Program(s):

1. Funktion und Dysfunktion des Nervensystems (FUEK409) (FUEK409)
2. 89572 - (Dys-)function and Plasticity (POF2-89572) (POF2-89572)

Appears in the scientific report 2012

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Database coverage:
; Current Contents - Clinical Medicine ; JCR ; NCBI Molecular Biology Database ; SCOPUS ; Science Citation Index Expanded ; Thomson Reuters Master Journal List ; Web of Science Core Collection

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