The esteemed Dr. Doug Shevlin (pictured on left) sent me this article on a newly described prion disease known as protease-sensitive prionopathy (PSPr), a disease with a similar clinical presentation as sporadic Creutzfeldt-Jakob disease (sCJD), but with a stronger hereditary connection. The prions associated with sCJD are protease resistant, but (as the name indicates) this new prion disease is caused by proteins that are protease sensitive. The authors, Pierluigi Gambetti and colleagues at the National Prion Surveillance Center in Cleveland, conclude that PSPr "is not rare among prion diseases, and it may be even more prevalent than our data indicate because protease- sensitive prionopathy cases are likely also to be classified within the group of non-Alzheimer's dementias."
Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals:
http://www.accessdna.com/condition/Prion_Disease/311. I hope it helps. Thanks, AccessDNA
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The esteemed Dr. Doug Shevlin (pictured on left) sent me this article on a newly described prion disease known as protease-sensitive prionopathy (PSPr), a disease with a similar clinical presentation as sporadic Creutzfeldt-Jakob disease (sCJD), but with a stronger hereditary connection. The prions associated with sCJD are protease resistant, but (as the name indicates) this new prion disease is caused by proteins that are protease sensitive. The authors, Pierluigi Gambetti and colleagues at the National Prion Surveillance Center in Cleveland, conclude that PSPr "is not rare among prion diseases, and it may be even more prevalent than our data indicate because protease- sensitive prionopathy cases are likely also to be classified within the group of non-Alzheimer's dementias."