Article
Codistribution of amyloid beta plaques and spongiform degeneration in familial Creutzfeldt-Jakob disease with the E200K-129M haplotype.
Archives of neurology - 1 Oct 2009
Ghoshal Nupur, Cali Ignazio, Perrin Richard Justin, Josephson S Andrew, Sun Ning, Gambetti Pierluigi, Morris John Carl
Abstract excerpt
BACKGROUND: Dominantly inherited Creutzfeldt-Jakob disease (CJD) represents 5% to 15% of all CJD cases. The E200K mutation in the prion protein (PrP) gene (PRNP) is the most frequent cause of familial CJD. Coexistent amyloid beta (Abeta) plaques have been reported in some transmissible spongiform encephalopathies but to date have not been reported in familial CJD with the E200K mutation. OBJECTIVE: To...
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