| Are dopa-responsive dystonia and Parkinson's disease related disorders? A case report. | |
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MedLine Citation:
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PMID: 22030322 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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OBJECTIVE: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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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Authors:
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Carsten Eggers; Alexander E Volk; Deniz Kahraman; Gereon R Fink; Barbara Leube; Matthias Schmidt; Lars Timmermann |
Publication Detail:
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Type: LETTER Date: 2011-10-24 |
Journal Detail:
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Title: Parkinsonism & related disorders Volume: - ISSN: 1873-5126 ISO Abbreviation: - Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2011-10-27 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9513583 Medline TA: Parkinsonism Relat Disord Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011 Elsevier Ltd. All rights reserved. |
Affiliation:
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Department of Neurology, University Hospital of Cologne, Kerpener Str. 62, 50924 Cologne, Germany. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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