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001     112081
005     20210129210843.0
024 7 _ |2 pmid
|a pmid:22030322
024 7 _ |2 DOI
|a 10.1016/j.parkreldis.2011.10.003
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037 _ _ |a PreJuSER-112081
041 _ _ |a eng
082 _ _ |a 610
100 1 _ |0 P:(DE-HGF)0
|a Eggers, C.
|b 0
245 _ _ |a Are dopa-responsive dystonia and Parkinson's s disease related disorders? A case report
260 _ _ |a Amsterdam [u.a.]
|b Elsevier Science
|c 2012
300 _ _ |a 666 - 668
336 7 _ |a Journal Article
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336 7 _ |a JOURNAL_ARTICLE
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336 7 _ |a article
|2 DRIVER
440 _ 0 |0 11401
|a Parkinsonism & Related Disorders
|v 18
|x 1353-8020
|y 5
500 _ _ |a Record converted from VDB: 16.11.2012
520 _ _ |a 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.
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|a Funktion und Dysfunktion des Nervensystems (FUEK409)
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588 _ _ |a Dataset connected to Pubmed
650 _ 2 |2 MeSH
|a Aged
650 _ 2 |2 MeSH
|a Antiparkinson Agents: therapeutic use
650 _ 2 |2 MeSH
|a Corpus Striatum: drug effects
650 _ 2 |2 MeSH
|a Corpus Striatum: pathology
650 _ 2 |2 MeSH
|a Corpus Striatum: radionuclide imaging
650 _ 2 |2 MeSH
|a Dystonic Disorders: genetics
650 _ 2 |2 MeSH
|a Dystonic Disorders: radionuclide imaging
650 _ 2 |2 MeSH
|a Female
650 _ 2 |2 MeSH
|a GTP Cyclohydrolase: genetics
650 _ 2 |2 MeSH
|a Humans
650 _ 2 |2 MeSH
|a Levodopa: therapeutic use
650 _ 2 |2 MeSH
|a Parkinson Disease: drug therapy
650 _ 2 |2 MeSH
|a Parkinson Disease: genetics
650 _ 2 |2 MeSH
|a Parkinson Disease: radionuclide imaging
650 _ 2 |2 MeSH
|a Tomography, Emission-Computed, Single-Photon
650 _ 2 |2 MeSH
|a Tropanes: diagnostic use
650 _ 7 |0 0
|2 NLM Chemicals
|a Antiparkinson Agents
650 _ 7 |0 0
|2 NLM Chemicals
|a Levodopa
650 _ 7 |0 0
|2 NLM Chemicals
|a Tropanes
650 _ 7 |0 155797-99-2
|2 NLM Chemicals
|a 2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane
650 _ 7 |0 EC 3.5.4.16
|2 NLM Chemicals
|a GTP Cyclohydrolase
700 1 _ |0 P:(DE-HGF)0
|a Volk, A.E.
|b 1
700 1 _ |0 P:(DE-HGF)0
|a Kahraman, D.
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|a Fink, G.R.
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|u FZJ
700 1 _ |0 P:(DE-HGF)0
|a Leube, B.
|b 4
700 1 _ |0 P:(DE-HGF)0
|a Schmidt, M.
|b 5
700 1 _ |0 P:(DE-HGF)0
|a Timmermann, L.
|b 6
773 _ _ |0 PERI:(DE-600)2027635-7
|a 10.1016/j.parkreldis.2011.10.003
|g Vol. 18, p. 666 - 668
|p 666 - 668
|q 18<666 - 668
|t Parkinsonism & related disorders
|v 18
|x 1353-8020
|y 2012
856 7 _ |u http://dx.doi.org/10.1016/j.parkreldis.2011.10.003
909 C O |o oai:juser.fz-juelich.de:112081
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