An enigmatic case of cortical anopsia: Antemortem diagnosis of a 14-3-3 negative Heidenhain-variant MM1-sCJD. Issue 1 (1st January 2020)

• Record Type: Journal Article
• Authors: Obergassel, Julius; Lohmann, Lisa; Meuth, Sven G.; Wiendl, Heinz; Grauer, Oliver; Nelke, Christopher
• Is Part Of: Prion. Volume 14:Issue 1(2020)
• Page Start: 24
• Page End: 28
• Publication Date: 2020-01-01
• Subjects: Creutzfeld-Jakob disease -- Heidenhain -- MM1 -- stroke -- FDG-PET -- RT-QuIC; Protein folding -- Periodicals; Prions -- Periodicals; Proteins -- Biotechnology -- Periodicals; 572.633
• DOI: 10.1080/19336896.2019.1706703
• Languages: English
• ISSNs: 1933-6896

Abstract

ABSTRACT: 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 18 F -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.