LRRK2 mutations on Crete: R1441H associated with PD evolving to PSP

Abstract
PD was diagnosed by established criteria.4 PSP was diagnosed by the National Institute of Neurologic Disorders and Stroke–SPSP criteria, requiring early postural instability and falls, vertical supranuclear palsy, pseudobulbar palsy, and akinetic-rigid parkinsonism (with prominent axial rigidity) unrelieved by levodopa. Controls (n = 300) were healthy subjects natives of Crete. All patients and controls were analyzed for five LRRK2 …