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

JAMA Neurol. 2014 Apr;71(4):484-6. doi: 10.1001/jamaneurol.2013.5884.


Importance: To 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).

Observations: PGD 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 relevance: IVF 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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Diseases in Twins / diagnosis
  • Diseases in Twins / genetics
  • Diseases in Twins / prevention & control
  • Female
  • Follow-Up Studies
  • Genetic Testing / methods*
  • Humans
  • Infant, Newborn
  • Mutation / genetics*
  • Pregnancy
  • Preimplantation Diagnosis / methods*
  • Prion Diseases / diagnosis*
  • Prion Diseases / genetics*
  • Prion Diseases / prevention & control
  • Prion Proteins
  • Prions / genetics*
  • Risk


  • PRNP protein, human
  • Prion Proteins
  • Prions