Familial tauopathy with P364S <i><scp>MAPT</scp></i> mutation: clinical course, neuropathology and ultrastructure of neuronal tau inclusions

P364S MAPT mutation is characterized clinically by a variable combination of frontotemporal dementia, parkinsonism and motor neurone disease of short duration, and neuropathologically by a widespread uniform distribution of all known neuronal tau inclusions in one family member. Two-compartment CNTI is a unique characteristic of the P364S MAPT mutation.