Preliminary evidence for anticipation in genetic E200K Creutzfeldt-Jakob disease

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

doi:10.1212/wnl.53.6.1328

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 journal › Article › peer-review

15 Scopus citations

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 language	English
Pages (from-to)	1328-1329
Number of pages	2
Journal	Neurology
Volume	53
Issue number	6
DOIs	https://doi.org/10.1212/wnl.53.6.1328
State	Published - 12 Oct 1999

Keywords

Creutzfeldt-Jakob disease
E200K mutation
Libyan Jewish

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1212/wnl.53.6.1328

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AU - Korczyn, A. D.

AU - Kahana, I.

AU - Chapman, J.

AU - Gabizon, Ruth

PY - 1999/10/12

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Preliminary evidence for anticipation in genetic E200K Creutzfeldt-Jakob disease

Abstract

Keywords

UN SDGs

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