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000112081 1001_ $$0P:(DE-HGF)0$$aEggers, C.$$b0
000112081 245__ $$aAre dopa-responsive dystonia and Parkinson's s disease related disorders? A case report
000112081 260__ $$aAmsterdam [u.a.]$$bElsevier Science$$c2012
000112081 300__ $$a666 - 668
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000112081 440_0 $$011401$$aParkinsonism & Related Disorders$$v18$$x1353-8020$$y5
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000112081 520__ $$aL-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.
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000112081 650_2 $$2MeSH$$aAged
000112081 650_2 $$2MeSH$$aAntiparkinson Agents: therapeutic use
000112081 650_2 $$2MeSH$$aCorpus Striatum: drug effects
000112081 650_2 $$2MeSH$$aCorpus Striatum: pathology
000112081 650_2 $$2MeSH$$aCorpus Striatum: radionuclide imaging
000112081 650_2 $$2MeSH$$aDystonic Disorders: genetics
000112081 650_2 $$2MeSH$$aDystonic Disorders: radionuclide imaging
000112081 650_2 $$2MeSH$$aFemale
000112081 650_2 $$2MeSH$$aGTP Cyclohydrolase: genetics
000112081 650_2 $$2MeSH$$aHumans
000112081 650_2 $$2MeSH$$aLevodopa: therapeutic use
000112081 650_2 $$2MeSH$$aParkinson Disease: drug therapy
000112081 650_2 $$2MeSH$$aParkinson Disease: genetics
000112081 650_2 $$2MeSH$$aParkinson Disease: radionuclide imaging
000112081 650_2 $$2MeSH$$aTomography, Emission-Computed, Single-Photon
000112081 650_2 $$2MeSH$$aTropanes: diagnostic use
000112081 650_7 $$00$$2NLM Chemicals$$aAntiparkinson Agents
000112081 650_7 $$00$$2NLM Chemicals$$aLevodopa
000112081 650_7 $$00$$2NLM Chemicals$$aTropanes
000112081 650_7 $$0155797-99-2$$2NLM Chemicals$$a2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane
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000112081 7001_ $$0P:(DE-HGF)0$$aVolk, A.E.$$b1
000112081 7001_ $$0P:(DE-HGF)0$$aKahraman, D.$$b2
000112081 7001_ $$0P:(DE-Juel1)131720$$aFink, G.R.$$b3$$uFZJ
000112081 7001_ $$0P:(DE-HGF)0$$aLeube, B.$$b4
000112081 7001_ $$0P:(DE-HGF)0$$aSchmidt, M.$$b5
000112081 7001_ $$0P:(DE-HGF)0$$aTimmermann, L.$$b6
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000112081 8567_ $$uhttp://dx.doi.org/10.1016/j.parkreldis.2011.10.003
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