Preliminary evidence for anticipation in genetic E200K Creutzfeldt-Jakob disease

H. Rosenmann, E. Kahana, A. D. Korczyn, I. Kahana, J. Chapman, Ruth Gabizon*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Creutzfeldt-Jakob disease (CJD) linked to the E200K mutation of the prion protein (PrP) gene presents within a wide range of phenotypic heterogeneity, including the age at disease onset. We report an earlier disease onset for mutation carriers of the offspring generation when compared with that of their parents, suggesting the possibility of anticipation. A still unidentified environmental or genetic element may affect the age at onset in mutation carriers of different generations.

Original languageEnglish
Pages (from-to)1328-1329
Number of pages2
JournalNeurology
Volume53
Issue number6
DOIs
StatePublished - 12 Oct 1999

Keywords

  • Creutzfeldt-Jakob disease
  • E200K mutation
  • Libyan Jewish

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