Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis
Sign Up to like & getrecommendations! Published in 2018 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.568
Abstract: Truncating mutations in PRNP have been associated with heterogeneous phenotypes ranging from chronic diarrhea and neuropathy to dementia, either rapidly or slowly progressive. We identified novel PRNP stop‐codon mutations (p.Y163X, p.Y169X) in two Italian kindreds.… read more here.
Keywords: broaden spectrum; truncating mutations; mutations broaden; novel prnp ... See more keywords
A novel PRNP-G131R variant associated with familial prion disease
Sign Up to like & getrecommendations! Published in 2020 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000454
Abstract: Roughly 40 autosomal dominant mutations of the prion protein gene (PRNP) cosegregate with familial Creutzfeldt-Jakob disease (CJD), fatal familial insomnia, or Gerstmann-Sträussler-Scheinker disease (GSS).1,2 Genetic prion disease in African Americans is rarely reported. We sequenced… read more here.
Keywords: prion; prion disease; novel prnp; g131r variant ... See more keywords