The Generative Brain

Prion diseases

Prion diseases are a small group of rare brain diseases that begin when prion protein folds into the wrong shape. Creutzfeldt-Jakob disease is the most common of them in people, and the group also includes inherited forms such as fatal familial insomnia and Gerstmann-Straussler-Scheinker disease, and the acquired forms variant and iatrogenic CJD.

The family of prion diseases
Prion diseases
  • Sporadic
    • Sporadic CJD
    • Sporadic fatal insomnia
    • VPSPr
  • Inherited
    • Genetic CJD
    • GSS
    • Fatal familial insomnia
  • Acquired
    • Iatrogenic CJD
    • Variant CJD
    • Kuru
  • In animals
    • BSE in cattle
    • Chronic wasting disease
    • Scrapie in sheep

If you have been given a name for an illness and want to know what it is, find it in the list below and start there. If you have not been given a name yet, what are prion diseases is the gentler place to begin.

Pages on each disease

How do the forms differ?

They differ in how the first misfolded prion protein came to be there.

In sporadic forms it happens for reasons that are not understood. Sporadic CJD is around 85 in every 100 reported CJD cases and is the one most people are referring to when they say CJD without any other word.

In genetic forms a person has inherited a change in PRNP, the gene that carries the instructions for prion protein. Depending on which change it is, the illness is given a different name: familial or genetic CJD, fatal familial insomnia, or Gerstmann-Straussler-Scheinker disease. Inherited forms are about 5 to 15 in every 100 cases, and around 10 to 15 in every 100 by some counts. Genetics explains what a gene in a family means and who to talk to about it.

In acquired forms prions came from outside the body. Variant CJD is linked to eating beef from cattle with BSE. Iatrogenic CJD followed contact with prions during medical care, through tissue grafts, instruments or growth hormone made from human tissue before the mid 1980s. Kuru was passed on through funeral practices in one population in Papua New Guinea and has effectively ended.

Two rarer conditions, sporadic fatal insomnia and variably protease-sensitive prionopathy, sit in the same group.

How rare are they?

Classic CJD causes about 1 to 2 deaths per million people a year worldwide, which is about 500 to 600 cases a year in the United States. Most cases are in older adults, with an average age in the late 60s, and cases under 30 are very unusual.

Does the name change what happens next?

It changes some things. The tests a doctor orders, whether a genetic counsellor is involved, and what the family is told about inheritance all depend on which form it is. The care and support around the illness are much the same across the group, and care and support covers that.

Diagnosis and tests explains how doctors tell these illnesses apart, and Understand and Care is the way back to the rest of this section.

Which form someone has, and what that means for them or for relatives, is a question for the treating neurologist, and for a genetic counsellor where a gene is involved.

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