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Inherited prion conditions — autosomal-dominant disorders caused by mutations in the gene encoding prion protein (PRNP) — account for approximately 15% of human prion disease cases. Researchers recently characterized a novel prion disease in a large kindred in the U.K., studying 6 of 11 affected family members (including autopsy or biopsy samples for 5 of them).
The condition was slow to progress and first manifested as chronic diarrhea, beginning when the individuals were in their 30s. Symptoms and signs of a mixed, predominantly sensory and autonomic neuropathy subsequently developed. Cognitive decline and seizures began when patients were in their 40s or 50s. The average age at death was 57.
A novel truncation mutation — PRNP Y163X — was i…