Kovacs and others (2005), Genetic prion disease: the EUROCJD experience, Human Genetics 118(2):166-174

Kovacs and colleagues used EUROCJD surveillance data from 1993 to 2002 to describe genetic transmissible spongiform encephalopathies (gTSEs) across European and partner countries, and argued the term gTSE is better than familial TSE. It is a descriptive surveillance paper: aggregate frequencies, onset and duration by mutation group, and test performance. The atlas cites it for recurring figures on mutation share and family history.

Key facts

  • Citation: Human Genetics 118(2):166-174, print November 2005, DOI 10.1007/s00439-005-0020-1, PMID 16187142.
  • First author Kovacs of the Austrian Reference Centre for Human Prion Diseases, Vienna, with 22 further named authors and the EUROCJD collective.
  • Data came from standardised EUROCJD collection covering 1993 to 2002.
  • Genetic forms make up about 10 to 15 percent of human prion disease, caused by PRNP mutations.
  • Phenotypes covered were genetic CJD, fatal familial insomnia and Gerstmann-Straussler-Scheinker disease; insertion mutations form a separate group.
  • Frequencies of point and insertion mutations differ significantly between countries, and E200K is the commonest.
  • Between 12 and 88 percent of cases, depending on mutation, had no positive family history.
  • Fatal familial insomnia and GSS began earlier than genetic CJD; insertion mutations were linked to longer illness than point mutations.
  • CSF 14-3-3, EEG and MRI were useful in point-mutation CJD but less sensitive in other forms.
  • Authors preferred gTSE to familial TSE and noted genetic screening might allow earlier diagnosis.

Timeline

  1. 1993to 2002 EUROCJD data collection window analysed.
  2. 2005online publication per Crossref (Europe PMC summary gives 2005-11-15; unresolved).
  3. 2005print issue of Human Genetics 118(2).

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Last checked 1 November 2026

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