NR ATNM
AU Puoti,G.; Mauro,C.; Piscosquito,G.; Tucci,C.; Di Fede,G.; Leonardi,A.; Giaccone,G.; Formisano,S.; Tagliavini,F.; Cotrufo,R.
TI Early onset atypical dementia associated with a novel seven octapeptide repeat insertion in the prion protein gene
QU International Conference - Prion 2005: Between fundamentals and society's needs - 19.10.-21.10.2005, Congress Center Düsseldorf - Poster Session: Human prions, risk of blood products, and therapy HUMAN-10
PT Konferenz-Poster
AB Genetic forms of prion diseases are associated with point or insertional mutations in the prion protein gene (PRNP). Several insertional mutations have been described so far; patients with one, two or four extra octapeptide repeats show typical features of sporadic Creutzfeldt-Jakob disease (CJD), while patients with five, six, seven, eight, and nine extra repeats have an autosomal dominant pattern of inheritance and features of CJD, Gerstmann-Sträussler-Scheinker syndrome or atypical dementia. We examined a 27-years-old patient with no familial history of neurological and/or psychiatric disorders, who presented with autistic behaviour at the age of 19 years and subsequently developed slowly progressive cognitive impairment with prevalent involvement of parietal lobe functions. The patient carried a seven extra-repeat insertional mutation in PRNP that was absent in his parents, and showed marked bilateral atrophy of parietal cerebral convexity at MRI and PET scan. The mutated recombinant PrP with seven extra repeats (M7-PrP) expressed in mammalian cells in vitro acquired physicochemical characteristics similar to PrPsc; moreover, M7-PrP was partially retained in the endoplasmic reticulum and was associated with a higher cell vulnerability to oxidative stress.
AD G.Puoti, G.Piscosquito, C.Tucci, R.Cotrufo, Deparment of Neurological Sciences - Second University of Naples, Italy; C.Mauro, A.Leonardi, S.Formisano, Department of Biology and Cell Pathology, "Federico II" University of Naples, Italy; G.Di Fede, G.Giaccone, F.Tagliavini, National Institute of Neurology "C. Besta", Milan, Italy
SP englisch
PO Deutschland