Diagnosis of Creutzfeldt-Jakob Disease by Western Blot Identification of Marker Protein in Human Brain Tissue

We tested purified preparations of brain tissue from 39 patients with Creutzfeldt–Jakob disease, Gerstmann–Sträussler–Scheinker syndrome, or kuru, and from 32 patients with a variety of nonspongiform degenerative diseases, with the use of Western blots against an antiserum to a similarly purified fraction made from scrapie-infected hamster brain. Positive reactions occurred in 81 percent of the 31 specimens from the patients with Creutzfeldt–Jakob disease (and in all of the 7 specimens that were stored frozen for less than one year), in 3 of the 4 specimens from the patients with kuru, in 3 of the 4 specimens from the patients with Gerstmann–Sträussler–Scheinker syndrome, and in none of the specimens from the patients with other neurologic degenerative disorders, including familial or sporadic Alzheimer's disease; dementia associated with myoclonus, motor neuron disease, or parkinsonism; and acquired-immunodeficiency-syndrome encephalopathy. Immunologic testing has thus begun to provide a useful and rapid adjunct to neuro-pathological examinations and animal-transmission experiments for the diagnosis of the spongiform encephalopathies. (N Engl J Med 1986; 314:547–51.) THE discovery of a unique fibrillary structure in brain-tissue preparations from animals with scrapie 1 , 2 and humans with Creutzfeldt–Jakob disease, 3 4 5 which contains a characteristic group of protease-resistant proteins with a relative molecular weight of 27 to 30 kd, 5 6 7 has opened the door to an immunologic approach to the diagnosis of these diseases. We report the results of an immunologic study of brain tissue from 39 patients with Creutzfeldt–Jakob disease, kuru, or Gerstmann–Sträussler–Scheinker syndrome, and from 32 patients with a variety of other chronic neurologic diseases. Methods Patient Specimens All the brain specimens that were tested were obtained from patients whose neurologic . . .