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Article

Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP).

Journal of neurology - 1 Jan 2024

Van den Broecke Astrid, Decruyenaere Alexander, Schuermans Nika, Verdin Hannah, Ghijsels Jody, Sieben Anne, Dermaut Bart, Hemelsoet Dimitri

Abstract excerpt

Inherited prion diseases caused by two- to twelve-octapeptide repeat insertions (OPRIs) in the prion protein gene (PRNP) show significant clinical heterogeneity. This study describes a family with two new cases with a 4-OPRI mutation and two asymptomatic mutation carriers. The pooled analysis summarizes all cases reported in the literature to date and describes the relation between survival, age of onset, number...

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PMID: 37689591
DOI: 10.1007/s00415-023-11968-9

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