This study investigates the role of MRI in detecting early changes in white matter among patients with genetic Creutzfeldt-Jakob disease (gCJD) and asymptomatic carriers of the E200K mutation.
Researchers found that symptomatic gCJD patients showed distinct alterations in white matter metrics compared to healthy relatives, specifically in terms of higher mean diffusivity and lower fractional anisotropy values.
Among healthy relatives, those carrying the E200K mutation with elevated tau protein levels in cerebrospinal fluid exhibited significant white matter changes, suggesting that further monitoring could reveal if these changes predict the development of symptomatic gCJD.