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• W2000220594 abstract "<b>Objective: </b> To assess the incidence and mortality rates of genetic transmissible spongiform encephalopathy (TSE) diseases in Italy. <b>Methods: </b> The authors have sequenced the prion protein gene (<i>PRNP</i>) 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 incidence and mortality rates were calculated. Differences in morbidity from genetic TSE diseases in the 20 Italian regions were assessed by the standardized morbidity ratio (SMR). <b>Results: </b> A total of 130 cases were classified as genetic TSE diseases with a mean yearly incidence rate of 0.28 cases per million people. Genetic TSE diseases represent 17.7% of all TSE diseases, including sporadic, iatrogenic, and variant CJD. The most frequent mutation was the V210I (n = 54), and the second most common the E200K (n = 42). Mortality rates for genetic TSE diseases did not increase in any of the age groups under examination over the 10 years of surveillance. The analysis of regional distribution of genetic cases by place of birth revealed that in Campania and Calabria regions the number of genetic TSE cases was higher than in other regions. <b>Conclusions: </b> In Italy the incidence of genetic transmissible spongiform encephalopathy (TSE) diseases is the second highest among European countries. Genetic analysis is important for a correct classification of patients with TSE." @default.
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• W2000220594 date "2005-05-09" @default.
• W2000220594 modified "2023-09-25" @default.
• W2000220594 title "High incidence of genetic human transmissible spongiform encephalopathies in Italy" @default.
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• W2000220594 doi "https://doi.org/10.1212/01.wnl.0000160118.26865.11" @default.
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