Genetic counseling for prion disease: Updates and best practices

Prion disease is a rare, fatal, and often rapidly progressive neurodegenerative disease. Ten to fifteen percent of cases are caused by autosomal dominant gain-of-function variants in the prion protein gene, PRNP. Rarity and phenotypic variability complicate diagnosis, often obscuring family history...

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Veröffentlicht in:	Genetics in medicine 2022-10, Vol.24 (10), p.1993-2003
Hauptverfasser:	Goldman, Jill S., Vallabh, Sonia M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Creutzfeldt-Jakob disease (CJD) Fatal familial insomnia (FFI) Gerstmann-Sträussler-Scheinker disease (GSS) Prion disease PRNP
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