We present clinical and autopsy findings in the first case of variant Creutzfeldt–Jakob disease diagnosed and confirmed in Portugal. Onset was at 11 years, the earliest onset reported, and the course (32 months) relatively long. Western blot showed protease resistant prion protein, mainly of type 4 (2B) isoform. The cerebral cortex revealed severe spongiform change with numerous amyloid plaques, which did not fit the definition of florid plaques. In the striatum, spongiform change was limited but the extracellular space was dilated. Other reports have found marked spongiform change in the striatum and little in the cortex. Massive neuronal loss, in excess of what has been described, was found in the thalamus and pontine grey. The cerebellum showed, as expected, severe loss of granule cells, moderate loss of Purkinje cells and marked immunopositivity for the prion protein. Differences between our findings and previous ones probably result from the patient’s long survival.
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
Competing interests None.
Provenance and Peer review Not commissioned; externally peer reviewed.