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Michael D. Geschwind

Michael D. Geschwind

University of California, San Francisco,USA

Title: The spectrum of human prion diseases

Biography

Biography: Michael D. Geschwind

Abstract

Statement of the Problem: Diagnosis of human prion diseases can be difficult as they can present similar to many other conditions, and many other conditions can clinically mimic prion disease. Correct diagnosis of prion disease is important in order to prevent accidental transmission of the prions, to prevent further unnecessary diagnostic testing and to provide a realistic prognosis to the patient and family.
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. 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 diagnostic accuracy of prion disease compared to other non-prion RPDs.
Findings: The clinical presentation, including presenting symptoms, duration of disease, and laboratory findings are quite varied in prion disease. Brain MRI with diffusion sequences showed high diagnostic accuracy for human prion disease.Unfortunately, radiologists in the USA often miss the radiological diagnosis of prion disease, despite the MRIs showing classic features. A relatively new CSF test called RT-QuIC shows high specificity, although not as good sensitivity, for prion diseasediagnosis.
Conclusion & Significance: Our ability to diagnosis prion disease has improved over the past few years to the point at which brain biopsies are rarely needed. Improved diagnosis will be important for future treatment trials and prevention of accidental transmission of these potentially infectious diseases.