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Normal and diseased prions. Creutzfeldt-Jakob disease and its variants belong to a broad group of human and animal diseases known as transmissible spongiform encephalopathies (TSEs). The name derives from the spongy holes, visible under a microscope, that develop in affected brain tissue.The cause of Creutzfeldt-Jakob disease and other TSEs appears to be abnormal versions of a kind of protein called a prion.ormal and diseased prions. Creutzfeldt-Jakob disease and its variants belong to a broad group of human and animal diseases known as transmissible spongiform encephalopathies (TSEs). The name derives from the spongy holes, visible under a microscope, that develop in affected brain tissue.
Inherited mutations in the prion protein gene (PRNP) cause the familial form of prion disease. This prion gene provides instructions to your cells regarding how to make the prion protein. In fCJD, the mutations in this gene cause the cells to produce an abnormal form of the prion protein instead of the normal form.ike sCJD, sFI is caused by a misfolded protein, but also like sCJD, what causes that protein to misfold is unknown. Symptoms include difficulty falling asleep (insomnia), difficulty walking, weight loss and excessive tears in the eye. The symptoms rapidly progress to loss of consciousness and death.