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Article

Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD.

Journal of neurology - 1 Mar 2015

Cohen Oren S, Chapman Joab, Korczyn Amos D, Nitsan Zeev, Appel Shmuel, Hoffmann Chen, Rosenmann Hanna, Kahana Esther, Lee Hedok

Abstract excerpt

Familial Creutzfeldt-Jakob disease (fCJD) in Jews of Libyan ancestry is caused by an E200K mutation in the PRNP gene. While carriers are born with this mutation, they usually remain asymptomatic until middle age. Early detection of conversion is crucial for understanding and eventually for the treatment of the disease. The aim of this study was to report longitudinal MRI data in E200K individuals who eventually...

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Source

Identifiers

PMID: 25522698
DOI: 10.1007/s00415-014-7615-1

Genes

PRNP

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