Glatzel
Fakultäten » Medizinische Fakultät » Neuropathologie, Institut für » Prof. Dr. Adriano Aguzzi » Glatzel
Completed research project
| Title / Titel | Human prion diseases in Switzerland: Investigation of clinical, genetic, histological and biochemical profiles | ||||||
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| Abstract (PDF, 14 KB) | |||||||
| Summary / Zusammenfassung | Transmissible spongiform encephalopathies (TSEs), which include bovine spongiform encephalopathy (BSE) in cows and Creutzfeldt-Jakob disease (CJD) in humans, are a group of diseases that are thought to be caused by an abnormally folded isoform of the prion protein and lead to progressive neurological degeneration, ending unavoidably in death. Sporadic CJD (sCJD) is the most common form of human TSEs. The clinical course of sCJD entails rapidly progressing dementia, with death usually ensuing within weeks or months of onset. The median age of onset is in the seventh decade. About 15% of human TSEs are caused by mutations in the prion protein gene (PRNP) and are thus termed genetic or familial Creutzfeldt-Jakob disease (fCJD). Human prion diseases that are caused by exposure to infectious prions from various sources, be it through surgical procedures, as in the case of iatrogenic CJD (iCJD) or through consumption of BSE prions, as in the case of variant CJD (vCJD) are referred to as acquired human TSEs. In Switzerland surveillance of human prion diseases is being carried out by the Swiss National Reference Center for Prion Diseases (NRPE). The team at the NRPE brings together clinical neurologists, neuropathologists and scientists specializing in the investigation of this disease. A thorough clinical, genetic, histological and biochemical characterizations of patients with suspect CJD is carried out. Between 1997 and 2000, the incidence of CJD fluctuated between 1-1.4 cases per million inhabitants per year. A rise in incidence was noticed in 2001 and 2002, the incidence rate being around 2.7 cases per million inhabitants per year. Research projects currently being carried out within the reference center include: · Investigation of the relative distribution of PrPSc within the central nervous system, the peripheral nervous system and peripheral organs. · Assessment of new tools for determining prion strains · Investigation of co-factors responsible for accumulation of PrPSc · Investigation of factors involved in the rise in CJD incidence from 2001 onwards |
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| Publications / Publikationen | Glatzel M, Rogivue C, Ghani A, Streffer JR, Amsler L, Aguzzi A. Incidence of Creutzfeldt-Jakob disease in Switzerland. Lancet. 2002;360:139-141.Rogivue C, Gottwein J, Aguzzi A, Glatzel M. Transmissible spongiform encephalopathies in humans. Schweiz Arch Tierheilkd. 2002;144:685-690.Frank HG, Schnorf H, Genoud D, Pizzolato P, Glatzel M, Landis T. Creutzfeldt-Jakob disease presenting as isolated dysarthria and dysphagia due to pseudobulbar palsy. Eur Neurol. 2000;44:126-127 | ||||||
| Keywords / Suchbegriffe | Prions, Creutzfeldt Jakob-Disease, surveillance, dementia | ||||||
| Project leadership and contacts / Projektleitung und Kontakte |
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| Funding source(s) / Unterstützt durch |
SNF (Personen- und Projektförderung), EU, Other Public Sources (e.g. Federal or Cantonal Agencies) Bundesamt für Gesundheit |
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| In collaboration with / In Zusammenarbeit mit |
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| Duration of Project / Projektdauer | Jan 2002 to Dec 2005 |