Clinical and pathological studies of olfactory dysfunction in FTDP-17 (PPND Family with N279K MAPT mutation)

Objective: To report clinical and pathological studies of olfaction in a frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) kindred known as pallido-ponto-nigral degeneration (PPND) family with N279K MAPT gene mutation. Background: This PPND family is one of the largest FTDP-17 kindreds with 40 affected individuals. The average symptomatic disease onset is 43 years (y) and the average survival time is 8 y. The initial clinical presentation usually includes rigidity or bradykinesia. During the course of the illness additional signs develop such as personality changes, dementia, dystonia, s…