Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200k mutation

E. S. Simon; E. Kahana; J. Chapman; T. A. Treves; R. Gabizon; H. Rosenmann; N. Zilber; A. D. Korczyn

doi:10.1002/1531-8249(200002)47:2<257::AID-ANA20>3.0.CO;2-U

Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200k mutation

E. S. Simon, E. Kahana, J. Chapman, T. A. Treves, R. Gabizon, H. Rosenmann, N. Zilber, A. D. Korczyn^*

^*Corresponding author for this work

Physiology Pharmacology

Research output: Contribution to journal › Article › peer-review

47 Scopus citations

Abstract

We identified 70 Creutzfeldt-Jakob disease patients with the previously described E200K mutation in the prion protein gene. The purpose of this study was to define the clinical features of E200K homozygous patients (n = 5), compared with heterozygotes. We found a statistically significant younger age at disease onset for the homozygous patients, although the average age at onset in this group was still in midlife. Disease features were not statistically different in the two groups. Possible explanations are discussed.

Original language	English
Pages (from-to)	257-260
Number of pages	4
Journal	Annals of Neurology
Volume	47
Issue number	2
DOIs	https://doi.org/10.1002/1531-8249(200002)47:2<257::AID-ANA20>3.0.CO;2-U
State	Published - 2000

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10.1002/1531-8249(200002)47:2<257::AID-ANA20>3.0.CO;2-U

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abstract = "We identified 70 Creutzfeldt-Jakob disease patients with the previously described E200K mutation in the prion protein gene. The purpose of this study was to define the clinical features of E200K homozygous patients (n = 5), compared with heterozygotes. We found a statistically significant younger age at disease onset for the homozygous patients, although the average age at onset in this group was still in midlife. Disease features were not statistically different in the two groups. Possible explanations are discussed.",

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AU - Simon, E. S.

AU - Kahana, E.

AU - Chapman, J.

AU - Treves, T. A.

AU - Gabizon, R.

AU - Rosenmann, H.

AU - Zilber, N.

AU - Korczyn, A. D.

PY - 2000

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AB - We identified 70 Creutzfeldt-Jakob disease patients with the previously described E200K mutation in the prion protein gene. The purpose of this study was to define the clinical features of E200K homozygous patients (n = 5), compared with heterozygotes. We found a statistically significant younger age at disease onset for the homozygous patients, although the average age at onset in this group was still in midlife. Disease features were not statistically different in the two groups. Possible explanations are discussed.

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Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200k mutation

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