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To validate the provisional findings of a number of smaller studies and explore additional determinants of characteristic diagnostic investigation results across the entire clinical spectrum of sporadic Creutzfeldt-Jakob disease (CJD), an international collaborative study was undertaken comprising 2451 pathologically confirmed (definite) patients. We(More)
BACKGROUND With respect to sporadic Creutzfeldt-Jakob disease (sCJD), six molecular subtypes (MM1, MM2, MV1, MV2, VV1, and VV2) have been described, which vary with respect to age at disease onset, disease duration, early symptoms, and neuropathology. MRI signal alterations were reported to correlate with distinct Creutzfeldt-Jakob disease (CJD) subtypes.(More)
OBJECTIVE To assess the incidence and mortality rates of genetic transmissible spongiform encephalopathy (TSE) diseases in Italy. METHODS The authors have sequenced the prion protein gene (PRNP) in 643 patients referred to the Italian Registry of Creutzfeldt-Jakob disease (CJD) and related disorders between 1993 and 2002. Crude age- and sex-specific(More)
The levels of 2 arachidonic acid metabolites formed either by enzymatic activity of cyclooxygenase, i.e. prostaglandin E2 (PGE2), or by free radical-catalyzed peroxidation, i.e. F2-isoprostane 8-epi-prostaglandin F2alpha (8-epi-PGF2alpha), were measured in the CSF of subjects with sporadic and familial Creutzfeldt-Jakob disease (CJD) and in brain(More)
The objective was to identify any possible cases of variant Creutzfeldt-Jakob disease (CJD) in Italy, and to estimate the trends in mortality from sporadic CJD for 1993-2000. CJD cases were ascertained through direct notification to the Registry; 382 definite or probable sporadic CJD patients, but no cases of variant CJD were identified. The average yearly(More)
Creutzfeldt-Jakob disease (CJD) belongs to a group of chronic, progressive, neurodegenerative disorders that may be hereditary, infectious, or sporadic. Hereditary CJDs are associated with mutations in the PRNP gene on chromosome 20p12-pter. We report a family in which four patients developed classical clinical signs of CJD, including severe cognitive(More)
Creutzfeldt-Jakob disease (CJD) is a neurodegenerative disorder characterized by the deposition of the pathological conformer (PrP(CJD)) of the host encoded cellular prion protein (PrP(C)). In genetic CJD associated with V210I or R208H PrP substitutions, the pathogenic role of mutant residues is still poorly understood. To understand how V210I or R208H PrP(More)
To evaluate the ability of the Italian Creutzfeldt-Jakob (CJD) register to detect human transmissible spongiform encephalopathy (TSE) cases we compared mortality data from the CJD register with those obtained from death certificates collected by the Italian National Census Bureau (ISTAT) between 1993 and 1999. We used the method of record linkage to compare(More)
We describe a 58-year-old woman who underwent hysteroscopic myomectomy to treat a large submucosal leiomyoma. A hypotonic glycine solution was instilled to distend the uterus. At one hour after the distending medium infusion started for hysteroscopic resection an electrolytic imbalance developed. One hour later myoclonus developed predominantly involving(More)
Creutzfeldt-Jakob Disease (CJD) is a rare pathology (about 1 case per million) but it has a great importance for Public Health; the Italian National CJD register has been established in the Istituto Superiore di Sanita (ISS) since 1993, and epidemiological studies on CJD have been carried out as well. This paper reports a mortality study carried out(More)