Hai-Tian Nan

PRNP D178N-129MM prion disease: Creutzfeldt-Jakob disease-like cortical ribboning without prominent early insomnia

Background The PRNP p.Asp178Asn (D178N) mutation on a methionine-bearing codon-129 allele is classically associated with fatal familial insomnia (FFI), but some carriers develop a Creutzfeldt-Jakob disease (CJD)-like phenotype. Case presentation and findings We report a 59-year-old woman with two months of rapidly prog...