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3rd Annual Congress on Infectious Diseases

San Francisco, USA

Michael D. Geschwind

Michael D. Geschwind

University of California, San Francisco, USA

Title: Human prion diseases – sporadic Jakob-Creutzfeldt disease


Biography: Michael D. Geschwind


Statement of the Problem: In my prior presentation I discussed the clinical spectrum of sporadic human prion disease, but these only account for 85% of human prion disease cases. About 15% of human prion diseases are genetic and about <1% are acquired. This talk will focus more on the genetic and acquired forms.

Methodology & Theoretical Orientation: Our center has evaluated more than 2500 cases of rapidly progressive dementia (RPD), including more than 600 cases of prion disease through our clinical research program.  We have also been following about 100 families with genetic prion disease. Most patients undergo a comprehensive evaluation including clinical history, cognitive testing, CSF analysis, research brain MRI protocol and other testing. These data are analyzed to identify measures that might improve our understanding of these different forms of prion disease.

Findings: The clinical spectrum of acquired and genetic prion diseases is vast. For acquired prion disease, of most concern is the variant JCD from exposure to bovine spongiform encephalopathy and in the USA and some other countries there is concern than prion disease of deer, elk, and moose, chronic wasting disease, might spread to humans. These topics are discussed. For genetic prion disease, we have found the spectrum of presentation to be quite varied, from RPD to slowly progressive dementia and movement disorders over years to decades.

Conclusion & Significance: Acquired and genetic prion diseases have some overlap with, but also significant differences from, the more common sporadic disease. Improved understanding of the presentation of these disorders should allow earlier and more accurate diagnosis of these rare conditions.