Gerstmann-Straussler-Scheinker disease (PRNP p.D202N) presenting with atypical parkinsonism

The p.D202N mutation in PRNP is a rare variant associated with Gerstmann-Straussler-Scheinker disease (GSS), a genetic form of prion cerebral amyloidosis. To date, there have been only 4 reports of this mutation worldwide and only one detailed clinical study (table e-1, links.lww.com/NXG/A223).(1-4) Here, we describe the clinical phenotype and the results of neuroradiologic and laboratory investigations in an Italian patient carrying this genetic variant.