May 23, 2014: Prion Protein Problems

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May 23, 2014

Prion diseases are rare, transmissible progressive degenerative conditions which result from accumulation of misfolded prion proteins and subsequent neuronal death (1). These disorders which include Creutzfeld-Jakob disease (CJD), Gerstmann-Straussler-Scheinker syndrome, and fata insomnia manifest heterogeneously with variable degrees of memory loss, psychiatric symptoms, or other cognitive dysfunctions. Sporadic, inherited and acquired forms exist. Gerstmann-Straussler-Scheinker and fatal familial insomnia are rare inherited forms which result from genetic mutations within the prion protein gene (PRNP). CJD can also occur as a result of inherited mutations within the PRNP (i.e. familial CJD) or can be acquired in the case of iatrogenic CJD, variant CJD from contaminated meat, or Kuru. Sporadic CJD, the most prevalent form of the disease, occurs in middle-aged individuals with rapidly progressive cognitive impairment, ataxia, or visual symptoms. While it is also not associated with mutations in the PRNP itself, it is characterized by genetic polymorphisms which are thought to explain the phenotypic variation that is observed in this condition (2).


  1. du Plessis DG. Prion protein disease and neuropathology of prion disease. Neuroimaging Clin N Am 2008;18:163-182.
  2. Ironside JW, Ritchie DL, Head MW. Phenotypic variability in human prion diseases. Neuropathol Appl Neurobiol 2005;31:592-599.

Submitted by Roy Strowd, MD, Clinical Neuro-Oncology Fellow, Johns Hopkins Hospital, Baltimore, MD.

Dr. Strowd is a member of the Resident and Fellow Section of Neurology.

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