Are dopa-responsive dystonia and Parkinsons disease related disorders - A case report

Parkinsonism & Related Disorders, 05/30/2012

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.

Print Article Summary Cat 2 CME Report