Diagnosis of new variant Creutzfeldt-Jakob disease

Ann Neurol. 2000 May;47(5):575-82.

Abstract

As of December 31, 1998, 35 deaths had been attributed to new variant Creutzfeldt-Jakob disease (nvCJD) in the United Kingdom, of which 33 cases had been neuropathologically confirmed and 2 classified as probable nvCJD. Fifteen cases were male and 20 female. The median illness duration was 14 months (range, 8-38 months) and the median age at death was 29 years (range, 18-53 years). The dinical features were consistent with previous descriptions. In nearly all cases, there were early psychiatric symptoms after a median period of 6 months ataxia developed, followed by involuntary movements and cognitive impairment. Electroencephalograms did not show the "typical" appearances found in sporadic CJD, about half the cases tested had a positive 14-3-3 immunoassay, and over 70% of cases had bilateral pulvinar high signal on magnetic resonance brain scanning. Prion protein gene analysis showed that all cases were homozygous for methionine at codon 129. Diagnostic criteria for nvCJD have been formulated, which have a high sensitivity and specificity.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Ataxia / diagnosis
  • Brain / pathology
  • Codon / genetics
  • Cognition Disorders / diagnosis
  • Creutzfeldt-Jakob Syndrome / diagnosis*
  • Creutzfeldt-Jakob Syndrome / epidemiology
  • Diagnosis, Differential
  • Dyskinesias / diagnosis
  • Female
  • Homozygote
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mental Disorders / diagnosis
  • Methionine / genetics
  • Middle Aged
  • Neuropsychological Tests
  • Population Surveillance
  • Prions / genetics
  • Sensitivity and Specificity
  • United Kingdom / epidemiology

Substances

  • Codon
  • Prions
  • Methionine