Literature DB >> 16301504

Increased incidence of genetic human prion disease in Hungary.

G G Kovács1, L László, A Bakos, J Minárovits, M T Bishop, T Ströbel, B Vajna, E Mitrova, K Majtényi.   

Abstract

The authors performed analysis of the prion protein gene (PRNP) in 27 out of 109 confirmed prion disease patients between 1994 and 2004. E200K mutation was found in 17 cases. Another 10 patients, lacking PRNP analysis, showed positive family history. The mean annual incidence (0.27/million) and proportion (25.6%) of genetic prion disease is unusually high in Hungary and might be related to the migration of ancestors from the Slovakian focus.

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Year:  2005        PMID: 16301504     DOI: 10.1212/01.wnl.0000184513.95290.80

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  4 in total

1.  A pilot study of a genetic CJD risk factor (E200K) in the general Slovak population.

Authors:  Eva Mitrová; Dana Kosorinová; Martin Gajdoš; Katarína Šebeková; Ivana Tomečková
Journal:  Eur J Epidemiol       Date:  2014-07-27       Impact factor: 8.082

2.  Codistribution of amyloid beta plaques and spongiform degeneration in familial Creutzfeldt-Jakob disease with the E200K-129M haplotype.

Authors:  Nupur Ghoshal; Ignazio Cali; Richard Justin Perrin; S Andrew Josephson; Ning Sun; Pierluigi Gambetti; John Carl Morris
Journal:  Arch Neurol       Date:  2009-10

3.  Tau Protein Phosphorylated at Threonine-231 is Expressed Abundantly in the Cerebellum in Prion Encephalopathies.

Authors:  Vıctor Manuel Gómez-López; Amparo Viramontes-Pintos; Miguel Ángel Ontiveros-Torres; Linda Garcés-Ramírez; Fidel de la Cruz; Ignacio Villanueva-Fierro; Marely Bravo-Muñoz; Charles R Harrington; Sandra Martínez-Robles; Petra Yescas; Parménides Guadarrama-Ortíz; Mario Hernandes-Alejandro; Francisco Montiel-Sosa; Mar Pacheco-Herrero; José Luna-Muñoz
Journal:  J Alzheimers Dis       Date:  2021       Impact factor: 4.472

Review 4.  Prion protein misfolding.

Authors:  L Kupfer; W Hinrichs; M H Groschup
Journal:  Curr Mol Med       Date:  2009-09       Impact factor: 2.222

  4 in total

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