Are dopa-responsive dystonia and Parkinsons disease related disorders - A case report
Parkinsonism & Related Disorders, 05/30/2012Eggers C et al.
Patients with mild parkinsonian symptoms, excellent response to low dosages of dopaminergic drugs and a reduced dopamine–transporter uptake in [123I] FP–CIT–SPECT might more commonly be GCH1 mutation carriers than has previously been supposed. Parkinson’s disease (PD) patients with a positive family history of Dopa–responsive dystonia (DRD) and combination of these clinical symptoms should be offered genetic counselling and testing for GCH1.
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