Early-onset, rapidly progressive familial tauopathy with R406W mutation

Abstract

An early-onset and rapidly progressive familial tauopathy with R406W mutation is described. The patient was a 47-year-old man who first presented with psychiatric symptoms followed by overt dementia at age 52 and died 1 year later. Postmortem study revealed tangle-associated neuronal degeneration, accentuated in the medial temporal lobe. R406W mutation was determined by sequence analysis and immunocytochemically with anti-mutant tau antibody.