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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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. A Novel Eight Octapeptide Repeat Insertion in PRNP Causing Prion Disease in a Danish Family

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Assessment of Quantitative and Allelic MGMT Methylation Patterns as a Prognostic Marker in Glioblastoma

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. A Novel Eight Octapeptide Repeat Insertion in PRNP Causing Prion Disease in a Danish Family

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Biomarkers in tumors of the central nervous system - a review

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

  4. KRAS mutations in the parental tumour accelerate in vitro growth of tumoroids established from colorectal adenocarcinoma

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftJournal of Neuropathology and Experimental Neurology
Vol/bind77
Udgave nummer8
Sider (fra-til)673-684
Antal sider12
ISSN0002-9564
DOI
StatusUdgivet - 1 aug. 2018

ID: 55350584