Article
White matter abnormalities in healthy E200K carriers may serve as an early biomarker for genetic Creutzfeldt-Jakob disease (gCJD).
Journal of neurology, neurosurgery, and psychiatry - 13 Mar 2025
Omer Nurit, Droby Amgad, Silbak Rawan, Trablus Noa, Bar David Aya, Shiner Tamara, Alcalay Yifat, Alcalay Roy, Nathan Talya, Thaler Avner, Mirelman Anat, Gana Weisz Mali, Goldstein Orly, Glinka Tal, Orr-Urtreger Avi, Giladi Nir, Bregman Noa
Abstract excerpt
BACKGROUND: MRI is an important tool for disease diagnosis of Creutzfeldt-Jakob disease (CJD), yet its role in identifying preclinical stages of disease remains unclear. Here, we explored subtle white matter (WM) alterations in genetic CJD (gCJD) patients and in asymptomatic E200K mutation carriers using MRI, depending on total tau protein (t-tau) levels in CSF. METHODS: Six symptomatic gCJD patients and N=60...
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