Article
Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Oct 2010
Alzualde A, Moreno F, Martínez-Lage P, Ferrer I, Gorostidi A, Otaegui D, Blázquez L, Atares B, Cardoso S, Martínez de Pancorbo M, Juste R, Rodríguez-Martínez A B, Indakoetxea B, López de Munain A
Abstract excerpt
Transmissible spongiform encephalopathies (TSEs) are a group of rare fatal neurodegenerative disorders. Creutzfeldt-Jakob disease (CJD) represents the most common form of TSE and can be classified into sporadic, genetic, iatrogenic and variant forms. Genetic cases are related to prion protein gene mutations but they only account for 10-20% of cases. Here we report an apparently sporadic CJD case with negative...
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