Article
Familial spongiform encephalopathy associated with a novel prion protein gene mutation.
Annals of neurology - 1 Aug 1997
Nitrini R, Rosemberg S, Passos-Bueno M R, da Silva L S, Iughetti P, Papadopoulos M, Carrilho P M, Caramelli P, Albrecht S, Zatz M, LeBlanc A
Abstract excerpt
Human prion diseases include Creutzfeldt-Jakob disease, Gerstmann-Stráussler-Scheinker disease, fatal familial insomnia, and kuru. Each of these diseases has a specific clinical presentation while spongiform encephalopathy, neuronal loss, and gliosis are their neuropathological hallmarks. We studied a Brazilian family with an autosomal dominant form of dementia. Nine members of the family were affected by a...
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