Validation of diagnostic criteria for variant Creutzfeldt-Jakob disease

Craig A Heath, Sarah A Cooper, Katy Murray, Andrea Lowman, Colm Henry, Margaret A MacLeod, Gillian E Stewart, Martin Zeidler, Jan M MacKenzie, James W Ironside, David M Summers, Richard S G Knight, Robert G Will

Research output: Contribution to journalArticlepeer-review

Abstract

Objective
Variant Creutzfeldt–Jakob disease (vCJD), a novel form of human prion disease, was recognized in 1996. The disease affected a younger cohort than sporadic CJD, and the early clinical course was dominated by psychiatric and sensory symptoms. In an attempt to aid diagnosis and establish standardization between surveillance networks, diagnostic criteria were established. These were devised from the features of a small number of cases and modified in 2000 as the clinical phenotype was established. Since then, only minor changes have been introduced; revalidation of the criteria in the current format is overdue.

Methods
Included in this study are autopsy/cerebral biopsy-proven cases of vCJD referred to the National CJD Surveillance Unit (NCJDSU) between 1995 and 2004 and suspect cases in which an alternative diagnosis was identified following autopsy/cerebral biopsy.

Results
Over the 10-year period, 106 definite cases of vCJD and 45 pathologically confirmed “noncases” were identified from the archives of the NCJDSU. The median age at onset of the cases was significantly younger than that of the noncases (27 years [range, 12–74 years] vs 43 years [range, 10–64 years]), and the median duration of illness was significantly shorter (14 months [range, 6–39 months] vs 22 months [range, 2–139 months]). The most commonly identified core clinical feature in cases was dementia; persistent painful sensory symptoms were the least frequent. Eighty-eight of 106 (83%) vCJD cases were retrospectively classified as probable in life, 6 cases were classified as possible. Most cases were classified as probable on the basis of core clinical features and brain magnetic resonance imaging. To date, the diagnostic criteria remain 100% specific, with no autopsy/cerebral biopsy-proven noncases classified as probable in life.

Interpretation
This study confirms that the diagnostic criteria for vCJD are sensitive and specific and provide a useful standard framework for case classification in a surveillance setting.
Original languageEnglish
Pages (from-to)761-770
Number of pages10
JournalAnnals of Neurology
Volume67
Issue number6
DOIs
Publication statusPublished - Jun 2010

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