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Prion. 2020 Dec;14(1):24-28. doi: 10.1080/19336896.2019.1706703.

An enigmatic case of cortical anopsia: Antemortem diagnosis of a 14-3-3 negative Heidenhain-variant MM1-sCJD.

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Department of Neurology with Institute of Translational Neurology, University Hospital Münster, Münster, Germany.


Sporadic Creutzfeldt-Jakob disease is the predominant type of human prion disease. While routine diagnostic in phenotypic cases has advanced considerably, the clinical heterogeneity and rarity of subtypes continue to constitute a major clinical and diagnostic challenge. Here, we report a peculiar case of the Heidenhain-variant of MM1 sporadic Creutzfeldt-Jakob disease presenting as a stroke mimic in an 81-year-old patient with a rapid and clinically distinct course of disease as compared to previously reported cases. While 14-3-3 protein was negative, clinical findings substantiated by 18F-FDG-PET imaging and RT-QuIC-Assay were able to establish the diagnosis. We conclude that in cases presenting with rapid progressive dementia secondary to sudden cortical anopsia the Heidenhain-variant of CJD should be considered.


Creutzfeld-Jakob disease; FDG-PET; Heidenhain; MM1; RT-QuIC; stroke

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