TY  - JOUR
AU  - Eggers, C.
AU  - Volk, A.E.
AU  - Kahraman, D.
AU  - Fink, G.R.
AU  - Leube, B.
AU  - Schmidt, M.
AU  - Timmermann, L.
TI  - Are dopa-responsive dystonia and Parkinson's s disease related disorders? A case report
JO  - Parkinsonism & related disorders
VL  - 18
SN  - 1353-8020
CY  - Amsterdam [u.a.]
PB  - Elsevier Science
M1  - PreJuSER-112081
SP  - 666 - 668
PY  - 2012
N1  - Record converted from VDB: 16.11.2012
AB  - 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.
KW  - Aged
KW  - Antiparkinson Agents: therapeutic use
KW  - Corpus Striatum: drug effects
KW  - Corpus Striatum: pathology
KW  - Corpus Striatum: radionuclide imaging
KW  - Dystonic Disorders: genetics
KW  - Dystonic Disorders: radionuclide imaging
KW  - Female
KW  - GTP Cyclohydrolase: genetics
KW  - Humans
KW  - Levodopa: therapeutic use
KW  - Parkinson Disease: drug therapy
KW  - Parkinson Disease: genetics
KW  - Parkinson Disease: radionuclide imaging
KW  - Tomography, Emission-Computed, Single-Photon
KW  - Tropanes: diagnostic use
KW  - Antiparkinson Agents (NLM Chemicals)
KW  - Levodopa (NLM Chemicals)
KW  - Tropanes (NLM Chemicals)
KW  - 2-carbomethoxy-8-(3-fluoropropyl)-3-(4-iodophenyl)tropane (NLM Chemicals)
KW  - GTP Cyclohydrolase (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C6  - pmid:22030322
UR  - <Go to ISI:>//WOS:000306039200056
DO  - DOI:10.1016/j.parkreldis.2011.10.003
UR  - https://juser.fz-juelich.de/record/112081
ER  -