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The Capital Region of Denmark - a part of Copenhagen University Hospital
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Sporadic Creutzfeldt-Jakob Disease in a Woman Married Into a Gerstmann-Sträussler-Scheinker Family: An Investigation of Prions Transmission via Microchimerism

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  1. Molecular Characterization of the Danish Prion Diseases Cohort With Special Emphasis on Rare and Unique Cases

    Research output: Contribution to journalJournal articleResearchpeer-review

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  4. Differential Muscle Involvement in Mice and Humans Affected by McArdle Disease

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  1. Early Intrathecal T Helper 17.1 Cell Activity in Huntington Disease

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Hereditære ataksier og sygdomme i det motoriske neuron

    Research output: Chapter in Book/Report/Conference proceedingBook chapterEducation

  3. Molecular Characterization of the Danish Prion Diseases Cohort With Special Emphasis on Rare and Unique Cases

    Research output: Contribution to journalJournal articleResearchpeer-review

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This is the first report of presumed sporadic Creutzfeldt-Jakob disease (sCJD) and Gerstmann-Sträussler-Scheinker disease (GSS) with the prion protein gene c.305C>T mutation (p.P102L) occurring in one family. The father and son were affected with GSS and the mother had a rapidly progressive form of CJD. Diagnosis of genetic, variant, and iatrogenic CJD was ruled out based on the mother's clinical history, genetic tests, and biochemical investigations, all of which supported the diagnosis of sCJD. However, given the low incidence of sCJD and GSS, their co-occurrence in one family is extraordinary and challenging. Thus, a hypothesis for the transmission of infectious prion proteins (PrPSc) via microchimerism was proposed and investigated. DNA from 15 different brain regions and plasma samples of the CJD patient was subjected to PCR and shallow sequencing for detection of a male sex-determining chromosome Y (chr. Y). However, no trace of chr. Y was found. A long CJD incubation period or presumed small concentrations of chr. Y may explain the obtained results. Further studies of CJD and GSS animal models with controlled genetic and proteomic features are needed to determine whether maternal CJD triggered via microchimerism by a GSS fetus might present a new PrPSc transmission route.

Original languageEnglish
JournalJournal of Neuropathology and Experimental Neurology
Volume77
Issue number8
Pages (from-to)673-684
Number of pages12
ISSN0002-9564
DOIs
Publication statusPublished - 1 Aug 2018

ID: 55350584