Publications

ancestral origins of the prion protein gene d178n mutation in the basque country.	fatal familial insomnia (ffi) and familial creutzfeldt-jakob disease (fcjd) are familial prion diseases with autosomal dominant inheritance of the d178n mutation. ffi has been reported in at least 27 pedigrees around the world. twelve apparently unrelated ffi and fcjd pedigrees with the characteristic d178n mutation have been reported in the prion diseases registry of the basque country since 1993. the high incidence of familial prion diseases in this region may reflect a unique ancestral origin ...	2005	15806397
phenotypic variability in familial prion diseases due to the d178n mutation.	between january 1993 and december 2003, 19 patients with familial prion diseases due to the d178n mutation were referred to the regional epidemiological registry for spongiform encephalopathies in the basque country in spain, a small community of some 2,100,000 inhabitants.	2005	16227536
geographical analysis of the sporadic creutzfeldt-jakob disease distribution in the autonomous community of the basque country for the period 1995-2008.	the basque country, in spain, shows one of the highest sporadic creutzfeldt-jakob disease (scjd) incidence rates in europe. the purpose is to analyse a possible focus of unidentified external or environmental factors which could trigger the high incidence rates of scjd in the basque country.	2014	24819667