6 Result(s)
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Ana B. Rodríguez-Martínez
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Article
Open AccessCoexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt–Jakob disease: a case report
The coexistence of different molecular types of classical protease-resistant prion protein in the same individual have been described, however, the simultaneous finding of these with the recently described pro...
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Article
Open AccessA novel form of human disease with a protease-sensitive prion protein and heterozygosity methionine/valine at codon 129: Case report
Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare neurodegenerative disorder in humans included in the group of Transmissible Spongiform Encephalopathies or prion diseases. The vast majority of sCJD cases ar...
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Article
Open AccessAtypical/Nor98 scrapie in the Basque Country: a case report of eight outbreaks
Since 2002, an active surveillance program for transmissible spongiform encephalopathy in small ruminants in European Union countries allowed identification of a considerable number of atypical cases with simi...
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Article
Founder effect and recurrent mutational events in fatal familial insomnia
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Article
Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation
This work presents a detailed investigation of the genomic region surrounding the PRNP gene in a sample of patients diagnosed with fatal familial insomnia (FFI) from several European countries, notably Spain. The...
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Article
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...
