Article
Familial Creutzfeldt-Jakob disease homozygous to the E200K mutation: clinical characteristics and disease course.
Journal of neurology - 1 Aug 2020
Nitsan Zeev, Cohen Oren S, Chapman Joab, Kahana Esther, Korczyn Amos D, Appel Shmuel, Osherov Michael, Rosenmann Hanna, Milo Ron
Abstract excerpt
OBJECTIVE: To characterize the demographic, clinical features and disease course of familial Creutzfeldt-Jakob disease (fCJD) patients homozygous to the E200K mutation. METHODS: The Israeli National CJD Database was screened for patients homozygous to the E200K mutation. Patients' demographic data, clinical presentation and neurological findings, tau protein levels in the cerebrospinal fluid (CSF) and EEG, were...
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