Open AccessTHE BRAZILIAN SURVEILLANCE FOR PRION DISEASE: CURRENT DATA
Author(s) -
JERUSA SMID,
Ricardo Nitríni,
Vilma R. Martins,
Michele Christine Landemberger,
Hélio Rodrigues Gomes,
Nathalie Canedo Canedo,
Leila Chimelli
Publication year - 2021
Publication title -
dementia and neuropsychologia
Language(s) - English
Resource type - Conference proceedings
SCImago Journal Rank - 0.54
H-Index - 21
ISSN - 1980-5764
DOI - 10.5327/1980-5764.rpda014
Subject(s) - medicine , disease , pathological , population , disease surveillance , pediatrics , environmental health
Background: The Brazilian Surveillance for Prion Disease began in 2005 with compulsory notification of suspected cases. Objective: To determine the diagnosis of reported patients to the Brazilian Surveillance for Prion Disease and evaluate the clinical and genetic data. Methods: Data from the notification sheet were collected and patients were classified according to current clinical and pathological criteria. Results: 757 cases were notified from 2005 to 2019. 51 cases were defined DCJ, 295 probable DCJ, 172 possible DCJ and 38 genetic DCJ. 55 patients had other diagnosis and 146 were unclassified (missing data). The most frequent mutations were E200K, D178N, P102L and V180I. Among defined and probable DCJ: 55% were female, mean age was 62 y.o. and median age was 61.9 y.o.; 51.8% were M129M and 23.2% V129V. CSF 14.3.3 was positive in 69.2%, disease-typical EEG findings were observed in 42.3% and MRI revealed typical findings in 76.9%. No variant CJD were diagnosed. Discussion: considering the Brazilian population and the prevalence of CJD worldwilde, we expected more cases of CJD than were notified. Methionine and valine homozygotes are overrepresented, in agreement with international data. MRI were the more useful subsidiary test for clinical classification.. Conclusion: besides the undernotification, the Brazilian surveillance for prion diseases evaluated 757 suspected cases in the last 15 years. 50.7% were probable, defined CJD or genetic prion disease.