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Neurology 1999;53:1328
© 1999 American Academy of Neurology
Brief Communications

Preliminary evidence for anticipation in genetic E200K Creutzfeldt-Jakob disease

H. Rosenmann, PhD, E. Kahana, MD, A. D. Korczyn, MSc, MD, I. Kahana, MSc, J. Chapman, MD, PhD and R. Gabizon, PhD

From the Department of Neurology (Dr. Rosenmann, I. Kahana, and Dr. Gabizon), Hadassah University Hospital, Jerusalem, and Barzilai Medical Center, Ashkelon; Ben Gurion University of the Negev (Dr. E. Kahana), and the Department of Neurology (Drs. Korczyn and Chapman), Tel-Aviv Medical Center, Sackler Faculty of Medicine, Tel-Aviv University, Ramat-Aviv, Israel.

Address correspondence and reprint requests to Dr. Ruth Gabizon, Department of Neurology, Hadassah University Hospital, Jerusalem, Israel, 91120.

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.

Key words: Creutzfeldt-Jakob disease—E200K mutation—Libyan Jewish.




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