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SAITO, Y; GEYER, A; SASAKI, R; KUZUHARA, S; NANBA, E; MIYASAKA, T; SUZUKI, K; MURAYAMA, S
Neurology, 03/2002, Letnik: 58, Številka: 5Journal Article
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.
