Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

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

Harvard

APA

CBE

MLA

Vancouver

Author

Bibtex

@article{2cd50ae755a047048e664eb649075fb8,
title = "Sporadic Creutzfeldt-Jakob Disease in a Woman Married Into a Gerstmann-Str{\"a}ussler-Scheinker Family: An Investigation of Prions Transmission via Microchimerism",
abstract = "This is the first report of presumed sporadic Creutzfeldt-Jakob disease (sCJD) and Gerstmann-Str{\"a}ussler-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.",
author = "Aušrine Areškeviciute and Melchior, {Linea Cecilie} and Helle Broholm and Lars-Henrik Krarup and Lindquist, {Suzanne Granh{\o}j} and Peter Johansen and Neil McKenzie and Alison Green and Nielsen, {J{\o}rgen Erik} and Henning Laursen and Lund, {Eva L{\o}bner}",
year = "2018",
month = "8",
day = "1",
doi = "10.1093/jnen/nly043",
language = "English",
volume = "77",
pages = "673--684",
journal = "American Journal of Psychotherapy",
issn = "0002-9564",
publisher = "Lippincott Williams & Wilkins",
number = "8",

}

RIS

TY - JOUR

T1 - Sporadic Creutzfeldt-Jakob Disease in a Woman Married Into a Gerstmann-Sträussler-Scheinker Family

T2 - An Investigation of Prions Transmission via Microchimerism

AU - Areškeviciute, Aušrine

AU - Melchior, Linea Cecilie

AU - Broholm, Helle

AU - Krarup, Lars-Henrik

AU - Lindquist, Suzanne Granhøj

AU - Johansen, Peter

AU - McKenzie, Neil

AU - Green, Alison

AU - Nielsen, Jørgen Erik

AU - Laursen, Henning

AU - Lund, Eva Løbner

PY - 2018/8/1

Y1 - 2018/8/1

N2 - 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.

AB - 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.

U2 - 10.1093/jnen/nly043

DO - 10.1093/jnen/nly043

M3 - Journal article

VL - 77

SP - 673

EP - 684

JO - American Journal of Psychotherapy

JF - American Journal of Psychotherapy

SN - 0002-9564

IS - 8

ER -

ID: 55350584