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Early-onset, rapidly progressive familial tauopathy with R406W mutation

From the Department of Neuropathology (Drs. Saito and Murayama), Tokyo Metropolitan Institute of Gerontology, and Department of Neuropathology (Dr. Miyasaka), Division of Neuroscience, Graduate School of Medicine, University of Tokyo; Department of Neurology (Drs. Sasaki and Kuzuhara), School of Medicine, Mie University; and Gene Research Center (Dr. Nanba), Tottori University, Japan; and Department of Pathology and Laboratory Medicine (Drs. Geyer and Suzuki), University of North Carolina at Chapel Hill.

Address correspondence and reprint requests to Dr. S. Murayama, Department of Neuropathology, Tokyo Metropolitan Institute of Gerontology, 35-2, Sakaecho, Itabashi-ku, Tokyo 173-0015, Japan; e-mail: smurayam{at}tmig.or.jp

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.

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