Article
A novel form of human disease with a protease-sensitive prion protein and heterozygosity methionine/valine at codon 129: Case report.
BMC neurology - 25 Oct 2010
Rodríguez-Martínez Ana B, Garrido Joseba M, Zarranz Juan J, Arteagoitia Jose M, de Pancorbo Marian M, Atarés Begoña, Bilbao Miren J, Ferrer Isidro, Juste Ramón A
Abstract excerpt
BACKGROUND: 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 are molecularly classified according to the abnormal prion protein (PrPSc) conformations along with polymorphism of codon 129 of the PRNP gene. Recently, a novel human disease, termed...
Topics
- Aged
- Blotting, Western
- Brain
- Codon
- Endopeptidase K
- Genotype
- Humans
- Male
- Methionine
- Phenotype
- PrPSc Proteins
- Prion Diseases
- Valine