Article
A novel insertional mutation in the prion protein gene: clinical and bio-molecular findings.
Journal of neurology, neurosurgery, and psychiatry - 1 Dec 2008
Mauro C, Giaccone G, Piscosquito G, Lavorgna A, Nigro M, Di Fede G, Leonardi A, Coppola C, Formisano S, Tagliavini F, Cotrufo R, Puoti G
Abstract excerpt
A young man, presenting with early onset of personality and behavioural changes followed by slowly progressive cognitive impairment associated with marked bi-parietal cerebral atrophy, was found to carry a novel seven extra-repeat insertional mutation in the prion protein gene (PRNP). In vitro, the mutated recombinant prion protein (PrP) showed biochemical properties that were consistent with pathological PrP...
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