Article Text

Genetic Creutzfeldt–Jakob disease mimicking variant Creutzfeldt–Jakob disease
  1. G G Kovacs1,
  2. S Horvath2,
  3. T Ströbel1,
  4. M Puskas2,
  5. A Bakos3,
  6. D M Summers4,
  7. R G Will4,
  8. H Budka1
  1. 1
    Institute of Neurology, Medical University of Vienna, and Austrian Reference Centre for Human Prion Diseases, Vienna, Austria
  2. 2
    Department of Neurology, Ferenc Flor County Hospital, Kistarcsa, Hungary
  3. 3
    Microbiological Research Group, National Centre for Epidemiology, Budapest, Hungary
  4. 4
    National CJD Surveillance Unit, Bryan Matthews Building, Western General Hospital, Edinburgh, UK
  1. Correspondence to Professor H Budka, Institute of Neurology, Medical University Vienna, AKH 4J, POB 48, A-1097 Wien, Austria; herbert.budka{at}

Statistics from

The “pulvinar sign” on MRI brain scan is defined as hyperintensity of the posterior thalamus relative to the signal intensity of the anterior putamen.1 In the appropriate clinical context, the pulvinar sign and hyperintensity in the dorsomedial thalamic nuclei (the hockey stick sign) are sensitive and specific features of variant Creutzfeldt–Jakob disease (vCJD).1 Variant CJD is an acquired form of prion diseases or transmissible spongiform encephalopathies. Since vCJD represents bovine spongiform encephalopathy infection in humans and is a potential public health hazard, it is important that this condition is distinguished from other progressive neuropsychiatric diseases, including sporadic and genetic forms of CJD (gCJD). Here we report a middle-aged woman with clinical symptoms and MRI features highly suggestive of vCJD, with a final diagnosis of gCJD.

Case report

A 54-year-old Hungarian woman showed considerable changes in her personality and behaviour, including withdrawal, anxiety attacks, impatience and aggression. She lost 10 kg in weight. Six months later she experienced clumsiness and involuntary jerks in her right arm and, within weeks, stiffness in the fingers of her right hand, a gait disorder with stiffness of the right leg and slurring of speech. Seven weeks before death, neurological examination revealed horizontal nystagmus, gait ataxia, dystonic posturing of the right arm, distally more pronounced paresis in the right arm (3/5) and hyperreflexia on the right side, but no Babinski sign. Sensory symptoms were not described. Paranoid ideation was noted. …

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