New Sporadic Prion Disease Identified

New Sporadic Prion Disease Identified

Researchers at Case Western Reserve University School of Medicine have discovered a new sporadic prion protein disease—a family of progressive neurological disorders that attack the structure of the brain.

The new disease—variably protease-sensitive prionopathy (VPSPr)—shares certain genetic characteristics of the most common form of human prion disease, sporadic Creutzfeldt-Jakob disease (sCJD), which was identified in the 1920s. However, VPSPr is associated with an abnormal prion protein that exhibits traits very different from those of sCJD, suggesting that it may be caused by a different mechanism more akin to other neurodegenerative disorders like Alzheimer's disease.

Pierluigi Gambetti, MD, and Wen-Quan Zou, MD, PhD, director and associate director of the School of Medicine's National Prion Disease Pathology Surveillance Center, first reported the discovery in 2008. Since then, more than 30 cases have been identified.

"If, as the current evidence indicates, the VPSPr mechanism of affecting the brain is different from that of other sporadic prion diseases, such as sCJD, the discovery of VPSPr would also provide the first example that the prion protein may spontaneously damage the brain with different mechanisms," says Gambetti. "This might apply to other dementing illnesses as well, and has implications for the strategies that need to be followed to attain a cure."