Variant Creutzfeldt–Jakob disease: the first confirmed case from Portugal shows early onset, long duration and unusual pathology

J Neurol Neurosurg Psychiatry 2010;81:112-114 doi:10.1136/jnnp.2009.164293

Short report

Variant Creutzfeldt–Jakob disease: the first confirmed case from Portugal shows early onset, long duration and unusual pathology

C Barbot1, L Castro2, C Oliveira3, S Carpenter2 + Author Affiliations

1Department of Neuropaediatrics, Hospital Maria Pia, Porto, Portugal 2Anatomical Pathology Service, Hospital S João, Porto, Portugal 3Neurochemistry Laboratory, Department of Neurology, Hospitals of the University of Coimbra, Coimbra, Portugal Correspondence to Dr S Carpenter, Anatomic Pathology Service, Hospital São João, Alamêda Professor Hernani Monteiro, 4202-451 Porto, Portugal; scarpenter@mail.telepac.pt Received 2 October 2008 Revised 14 February 2009 Accepted 20 February 2009

Abstract

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.



http://jnnp.bmj.com/content/81/1/112.abstract




Thursday, December 3, 2009


FINAL REPORT OF A MISSION CARRIED OUT IN PORTUGAL FROM 11 TO 20 MAY 2009 IN ORDER TO EVALUATE MEASURES CONCERNING BOVINE SPONGIFORM ENCEPHALOPATHY


http://docket-aphis-2006-0041.blogspot.com/2009/12/final-report-of-mission-carried-out-in.html



Thursday, December 17, 2009

An Unusual Case of Variant CJD 18 December 2009


http://creutzfeldt-jakob-disease.blogspot.com/2009/12/unusual-case-of-variant-cjd-18-december.html




Saturday, June 13, 2009

Monitoring the occurrence of emerging forms of Creutzfeldt-Jakob disease in the United States 2003 revisited 2009

http://cjdusa.blogspot.com/2009/06/monitoring-occurrence-of-emerging-forms.html




TSS