Journal article

Novel prion protein gene mutation in an octogenarian with Creutzfeldt-Jakob disease

S Collins, A Boyd, A Fletcher, K Byron, C Harper, CA McLean, CL Masters

JAMA Neurology | AMER MEDICAL ASSOC | Published : 2000

Abstract

BACKGROUND: The transmissible spongiform encephalopathies constitute a fascinating and biologically unique group of invariably fatal neurodegenerative disorders that affect both animals and humans. Creutzfeldt-Jakob disease (CJD), Gerstmann-Straussler-Scheinker syndrome, and fatal familial insomnia represent the more common human phenotypes. Excluding the small number of iatrogenically transmitted cases, approximately 85% to 90% of patients develop CJD without identifiable explanation, with an increasing number of different mutations in the prion protein gene (PRNP) recognized as probably causative in the remainder. OBJECTIVE: To report on an 82-year-old woman with pathologically confirmed C..

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