Presymptomatic signs in healthy CJD mutation carriers

Ariela Gigi, Eli Vakil, Ester Kahana, Uri Hadar

Research output: Contribution to journalArticlepeer-review


Creutzfeldt-Jacob disease (CJD) is a rapidly progressing dementia with neurological, psychiatric and cognitive symptoms. We focused our study on the familial CJD form among Libyan Jews (the E200K mutation), trying to identify preclinical neuropsychological signs in mutation carriers to facilitate early diagnosis of the disease. A wide range of neuropsychological tests was administered to 27 healthy volunteers, all first-degree relatives of genetic CJD patients. Thirteen of our participants were gene mutation carriers (E200K) and 14 controls. The healthy mutation carriers reported significantly lower Trait and higher State anxiety scores. Repeated Measure analysis showed statistical significance. The Anxiety Index (State-Trait Anxiety Score) progressed with age in the carriers' group but not in the controls. Since this was more pronounced in the older subjects, we suggest that abnormal stress mechanisms precede the clinical onset of CJD. Cognitive differences have also been found between carriers and controls, especially in visual recognition of pictured objects. Both kinds of differences (anxiety levels and cognitive deficits) were most pronounced in elderly subjects. This study is the first to show any dysfunction in healthy CJD mutation carriers.

Original languageEnglish
Pages (from-to)246-255
Number of pages10
JournalDementia and Geriatric Cognitive Disorders
Issue number5-6
StatePublished - May 2005


  • Anxiety
  • Creutzfeldt-Jacob disease
  • Dementia
  • Neuropsychology
  • PRNP gene
  • Preclinical signs
  • Prion mutation


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