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

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An enigmatic case of cortical anopsia: Antemortem diagnosis of a 14-3-3 negative Heidenhain-variant MM1-sCJD. / Obergassel, Julius; Lohmann, Lisa; Meuth, Sven G; Wiendl, Heinz; Grauer, Oliver; Nelke, Christopher.

In: PRION, Vol. 14, No. 1, 27.12.2019, p. 24-28.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Obergassel, J, Lohmann, L, Meuth, SG, Wiendl, H, Grauer, O & Nelke, C 2019, 'An enigmatic case of cortical anopsia: Antemortem diagnosis of a 14-3-3 negative Heidenhain-variant MM1-sCJD', PRION, vol. 14, no. 1, pp. 24-28. https://doi.org/10.1080/19336896.2019.1706703

APA

Obergassel, J., Lohmann, L., Meuth, S. G., Wiendl, H., Grauer, O., & Nelke, C. (2019). An enigmatic case of cortical anopsia: Antemortem diagnosis of a 14-3-3 negative Heidenhain-variant MM1-sCJD. PRION, 14(1), 24-28. https://doi.org/10.1080/19336896.2019.1706703

Vancouver

Obergassel J, Lohmann L, Meuth SG, Wiendl H, Grauer O, Nelke C. An enigmatic case of cortical anopsia: Antemortem diagnosis of a 14-3-3 negative Heidenhain-variant MM1-sCJD. PRION. 2019 Dec 27;14(1):24-28. https://doi.org/10.1080/19336896.2019.1706703

Bibtex

@article{edb0b26164d2424c803570c26e9e523f,
title = "An enigmatic case of cortical anopsia: Antemortem diagnosis of a 14-3-3 negative Heidenhain-variant MM1-sCJD",
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 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.",
author = "Julius Obergassel and Lisa Lohmann and Meuth, {Sven G} and Heinz Wiendl and Oliver Grauer and Christopher Nelke",
year = "2019",
month = dec,
day = "27",
doi = "10.1080/19336896.2019.1706703",
language = "English",
volume = "14",
pages = "24--28",
journal = "PRION",
issn = "1933-6896",
publisher = "LANDES BIOSCIENCE",
number = "1",

}

RIS

TY - JOUR

T1 - An enigmatic case of cortical anopsia: Antemortem diagnosis of a 14-3-3 negative Heidenhain-variant MM1-sCJD

AU - Obergassel, Julius

AU - Lohmann, Lisa

AU - Meuth, Sven G

AU - Wiendl, Heinz

AU - Grauer, Oliver

AU - Nelke, Christopher

PY - 2019/12/27

Y1 - 2019/12/27

N2 - 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.

AB - 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.

U2 - 10.1080/19336896.2019.1706703

DO - 10.1080/19336896.2019.1706703

M3 - SCORING: Journal article

C2 - 31880189

VL - 14

SP - 24

EP - 28

JO - PRION

JF - PRION

SN - 1933-6896

IS - 1

ER -