Protein Misfolding, Not Mutant Gene, Key To Lethal Slee...( ith the witches' curse to dwindle pea...)

The patient was referred to Dr. Mastrianni (at that time, a clinical instructor of neurology and medical director of Alzheimer's diagnostics at UCSF), who began the testing that led to the diagnosis. Large doses of hypnotic drugs were only briefly beneficial and the patient suffered gradual but progressive loss of coordination and short-term memory, and increasing difficulty separating dreams from reality. One year after the onset of symptoms he was admitted to a long-term care facility. Four months later, severely delusional, he died.

At autopsy, the patient's brain showed damage that was entirely consistent with FFI but no evidence of the abnormal gene in any tissue. A search found no family member with a similar disease. The researchers then used extracts from the patient's brain and from the brain of a different patient with confirmed FFI to transmit the disorder to transgenic mice with a mouse/human prion protein gene. The neuropathology in the affected mice was indistinguishable, indicating that these strains were identical.

Other members of the research team were Randall Nixon, Robert Layzer, Glenn Telling, Ph.D., previously an assistant adjunct professor of neurology at UCSF, Dong Han, M.S., a postgraduate researcher in Prusiner's laboratory, and Stephen DeArmond, Ph.D., a professor of pathology and neurology at UCSF.

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Contact: John Easton
jeaston@mcis.bsd.uchicago.edu
773-702-6241
University of Chicago Medical Center
27-May-1999