Journal
JAMA NEUROLOGY
Volume 71, Issue 3, Pages 340-343Publisher
AMER MEDICAL ASSOC
DOI: 10.1001/jamaneurol.2013.5378
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Funding
- Medical Research Council
- Department of Health (England)
- MRC [MC_U123160651, MC_U123170362, MC_U123160657, MC_U123160655] Funding Source: UKRI
- Medical Research Council [MC_U123170362, MC_U123160651, MC_U123160657, MC_U123160655] Funding Source: researchfish
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IMPORTANCE Human transmission of bovine spongiform encephalopathy causes the fatal neurodegenerative condition variant Creutzfeldt-Jakob disease (vCJD) and, based on recent human prevalence studies, significant subclinical prion infection of the UK population. To date, all clinical cases have been fatal, totaling 228 mostly young adults residing in the United Kingdom. OBSERVATIONS Here we describe the investigation and case history of a patient recently diagnosed as having vCJD in the United Kingdom. Although his presentation, imaging findings, cerebrospinal fluid investigation results, and clinical progression were typical of other cases, tonsillar biopsy and subsequent examination of multiple tissues at autopsy showed minimal deposition of disease-associated prion protein in peripheral lymphoreticular tissue. The result of a blood test for vCJD, the Direct Detection Assay for vCJD, was negative. CONCLUSIONS AND RELEVANCE These findings suggest that some patients with vCJD have very low peripheral prion colonization and therefore may not have detectable prion deposition in diagnostic tonsillar biopsy or markers of prion infection in blood. These results have implications for accurate interpretation of diagnostic tests and prevalence studies based on lymphoreticular tissue or blood.
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