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@ARTICLE{Eggers:112081,
      author       = {Eggers, C. and Volk, A.E. and Kahraman, D. and Fink, G.R.
                      and Leube, B. and Schmidt, M. and Timmermann, L.},
      title        = {{A}re dopa-responsive dystonia and {P}arkinson's s disease
                      related disorders? {A} case report},
      journal      = {Parkinsonism $\&$ related disorders},
      volume       = {18},
      issn         = {1353-8020},
      address      = {Amsterdam [u.a.]},
      publisher    = {Elsevier Science},
      reportid     = {PreJuSER-112081},
      pages        = {666 - 668},
      year         = {2012},
      note         = {Record converted from VDB: 16.11.2012},
      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.},
      keywords     = {Aged / Antiparkinson Agents: therapeutic use / Corpus
                      Striatum: drug effects / Corpus Striatum: pathology / Corpus
                      Striatum: radionuclide imaging / Dystonic Disorders:
                      genetics / Dystonic Disorders: radionuclide imaging / Female
                      / GTP Cyclohydrolase: genetics / Humans / Levodopa:
                      therapeutic use / Parkinson Disease: drug therapy /
                      Parkinson Disease: genetics / Parkinson Disease:
                      radionuclide imaging / Tomography, Emission-Computed,
                      Single-Photon / Tropanes: diagnostic use / Antiparkinson
                      Agents (NLM Chemicals) / Levodopa (NLM Chemicals) / Tropanes
                      (NLM Chemicals) /
                      2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane
                      (NLM Chemicals) / GTP Cyclohydrolase (NLM Chemicals)},
      cin          = {INM-3},
      ddc          = {610},
      cid          = {I:(DE-Juel1)INM-3-20090406},
      pnm          = {Funktion und Dysfunktion des Nervensystems (FUEK409) /
                      89572 - (Dys-)function and Plasticity (POF2-89572)},
      pid          = {G:(DE-Juel1)FUEK409 / G:(DE-HGF)POF2-89572},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:22030322},
      UT           = {WOS:000306039200056},
      doi          = {10.1016/j.parkreldis.2011.10.003},
      url          = {https://juser.fz-juelich.de/record/112081},
}