Early-onset, rapidly progressive familial tauopathy with R406W mutation.

Neurology 2002 Mar;58(5):811-3

Department of Neuropathology, Tokyo Metropolitan Institute of Gerontology, University of Tokyo, Japan.

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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http://dx.doi.org/10.1212/wnl.58.5.811DOI Listing
March 2002

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