NR ATOH
AU Di Fede,G.; Giaccone,G.; Limido,L.; Mangieri,M.; Capobianco,R.; Suardi,S.; Grisoli,M.; Binelli,S.; Bugiani,O.; Tagliavini,F.
TI A novel phenotype of sporadic Creutzfeldt-Jakob disease
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-31
PT Konferenz-Poster
AB Sporadic Creutzfeldt-Jakob disease (sCJD) is a fatal encephalopathy characterized by distinct, well-defined clinico-pathological phenotypes related to the PRNP codon 129 genotype and the PrPres type. A neuropathological and biochemical study was carried out in a 78-year-old woman, who, after a slowly progressing extrapyramidal syndrome, developed sudden and fluctuating unconsciousness, dementia, spastic paraparesis and myoclonic jerks, with exitus after 3 months. EEG and CSF analysis revealed typical changes of sCJD, while brain MRI showed diffuse supratentorial atrophy and white matter signal abnormalities, in the absence of striatal or thalamic changes. The analysis of PRNP revealed that the patient was homozygous for methionine at codon 129 and did not carry mutations in the ORF. The neuropathologic examination showed PrP-immunoreactive plaque-like deposits in the cerebral cortex, striatum and thalamus, with sparing of cerebellum. Western blot analysis was characterized by a previously unrecognized PrPres profile, marked by the presence of 24- and 19-kd bands, in the absence of a diglycosylated PrPres species. The clinical, pathological and biochemical features of this case define a novel sCJD phenotype, possibly related to a new prion strain.
AD G.Di Fede, G.Giaccone1, L.Limido, M.Mangieri, R.Capobianco, S.Suardi, O.Bugiani, F.Tagliavini, Division of Neuropathology and Neurology 5, National Neurological Institute "Carlo Besta", Milan. Italy; M.Grisoli, Division of Neuroradiology, National Neurological Institute "Carlo Besta", Milan. Italy; S.Binelli, Division of Neurophysiology, National Neurological Institute "Carlo Besta", Milan. Italy
SP englisch
PO Deutschland