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Title: The clinical features and diagnosis of sporadic Creutzfeldt-Jakob disease in the United Kingdom, 1990-2002
Author: Cooper, S.
Awarding Body: University of Edinburgh
Current Institution: University of Edinburgh
Date of Award: 2005
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Aims of the study: To define circumstances where making a clinical diagnosis of sporadic CJD is potentially problematic, to explore ways of improving diagnostic accuracy and enhancing surveillance in these settings. Methodology: Clinically “atypical” cases of sCJD were defined according to specific criteria (young, long duration, certain focal features at onset) and identified by retrospective case-file review of all 485 pathologically proven cases (1990-2002). Comparisons were made with a consecutively selected “Core group” of “typical” sCJD (n=133). Results and conclusions: Twenty four per cent of all sCJD cases were “atypical”. For each “atypical” subgroup a distinct phenotype emerged. Long duration cases were associated with early depression and personality change, more psychiatric features and a genuinely slow progression (with infrequent cerebellar or extrapyramidal features) leading to relatively late notification to the NCJDSU. Amongst “atypical” cases (with the exception of pure visual onset cases) the electroencephalogram was diagnostically less sensitive and where positive was associated with genotype MM at codon 129 of the prion protein gene. Significant variation in genotype distribution was observed in long duration and cerebellar onset cases compared with Core sCJD. Nineteen per cent of sCJD cases were referred after autopsy, of these about one third were not diagnosed whilst alive and reasons for this are discussed. Alzheimer’s disease (AD) was the most likely alternative diagnosis in pathologically proven non-cases except when disease duration was less than six months, where paraneoplastic/neoplastic disease was commonest. The typical clinical phenotype of sCJD was sufficiently distinct to request neuropathological review on occasion, which resulted in a revision of the pathological diagnosis (from AD to AD plus sCJD) in one case.
Supervisor: Not available Sponsor: Not available
Qualification Name: Thesis (M.D.) Qualification Level: Doctoral
EThOS ID:  DOI: Not available