Rare case of atypical parkinsonism: why family history is important

We discuss the clinical presentation and assessment of a middle aged previously fit and well man who presented with two episodes of syncope to the cardiologists followed by the development of a rapidly progressive parkinsonian syndrome a couple of years later, which was not responsive to standard dopaminergic replacement therapies. Magnetic resonance imaging scan of the brain was normal and a DAT SPECT scan showed reduced dopamine uptake in the basal ganglia. On further enquiry, a family history of a similar presentation in his first cousin was elicited and that cousin had tested positive for a mutation in the PRNP gene. Subsequently, he also tested positive for A117V mutation in the PRNP gene, confirming familial Creutzfeld Jakob disease. Familial Creutzfeld Jakob disease presenting with parkinsonism is rare in clinical practice, but it is something that neurologists and geriatricians running movement disorder clinics should be aware of, as this is a rapidly progressive and uniformly fatal condition with inheritance risks to family members.