Are Dopa-responsive dystonia and Parkinson's disease related disorders?
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Are Dopa-responsive dystonia and Parkinson's disease related disorders? A case report. / Eggers, Carsten; Volk, Alexander E; Kahraman, Deniz; Fink, Gereon R; Leube, Barbara; Schmidt, Matthias; Timmermann, Lars.
In: PARKINSONISM RELAT D, Vol. 18, No. 5, 06.2012, p. 666-8.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Are Dopa-responsive dystonia and Parkinson's disease related disorders?
T2 - A case report
AU - Eggers, Carsten
AU - Volk, Alexander E
AU - Kahraman, Deniz
AU - Fink, Gereon R
AU - Leube, Barbara
AU - Schmidt, Matthias
AU - Timmermann, Lars
N1 - Copyright © 2011 Elsevier Ltd. All rights reserved.
PY - 2012/6
Y1 - 2012/6
N2 - 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.
AB - 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.
KW - Aged
KW - Antiparkinson Agents
KW - Corpus Striatum
KW - Dystonic Disorders
KW - Female
KW - GTP Cyclohydrolase
KW - Humans
KW - Levodopa
KW - Parkinson Disease
KW - Tomography, Emission-Computed, Single-Photon
KW - Tropanes
U2 - 10.1016/j.parkreldis.2011.10.003
DO - 10.1016/j.parkreldis.2011.10.003
M3 - SCORING: Journal article
C2 - 22030322
VL - 18
SP - 666
EP - 668
JO - PARKINSONISM RELAT D
JF - PARKINSONISM RELAT D
SN - 1353-8020
IS - 5
ER -
