• JAMA neurology · Apr 2014

    Review Case Reports

    Preimplantation genetic diagnosis (PGD) for genetic prion disorder due to F198S mutation in the PRNP gene.

    • Alice Uflacker, P Murali Doraiswamy, Svetlana Rechitsky, Tricia See, Michael Geschwind, and Ilan Tur-Kaspa.
    • Department of Psychiatry and the Duke Institute for Brain Sciences, Duke University, Durham, North Carolina.
    • JAMA Neurol. 2014 Apr 1; 71 (4): 484-6.

    ImportanceTo describe the first case of preimplantation genetic diagnosis (PGD) and in vitro fertilization (IVF) performed for the prevention of genetic prion disease in the children of a 27-year-old asymptomatic woman with a family history of Gerstmann-Sträussler-Sheinker syndrome (GSS).ObservationsPGD and fertilization cycles resulted in detection of 6 F198S mutation-free embryos. Of these, 2 were selected for embryo transfer to the patient's uterus, yielding a clinical twin pregnancy and birth of healthy but slightly premature offspring with normal development at age 27 months.Conclusion And RelevanceIVF with PGD is a viable option for couples who wish to avoid passing the disease to their offspring. Neurologists should be aware of PGD to be able to better consult at-risk families on their reproductive choices.

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