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Article

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

JAMA neurology - 1 Apr 2014

Uflacker Alice, Doraiswamy P Murali, Rechitsky Svetlana, See Tricia, Geschwind Michael, Tur-Kaspa Ilan

Abstract excerpt

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...

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Source

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Identifiers

PMID: 24493558
DOI: 10.1001/jamaneurol.2013.5884
PMCID: PMC4349573

Genes

PGD
GSS
PRNP

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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