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Human prion disease with a G114V mutation and epidemiological studies in a Chinese family: a case series

17 Oct 2008

Abstract excerpt

INTRODUCTION: Transmissible spongiform encephalopathies are a group of neurodegenerative diseases of humans and animals. Genetic Creutzfeldt-Jakob diseases, in which mutations in the PRNP gene predispose to disease by causing the expression of abnormal PrP protein, include familial Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia. CASE PRESENTATION: A 47-year-old...

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PMID: 18925969
DOI: 10.1186/1752-1947-2-331

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