부산대학교 도서관

Keywords: familial CJD; fatal familial insomnia EN familial CJD fatal familial insomnia 164 165 2 01/06/21 20210101 NES 210101 Baldelli et al.1 raise an important issue in respect to our report of a 54 year old man with D178N mutation in PRNP gene presenting with rapidly progressive autosomal dominant ataxia and vocal cord palsy.2 The D178N mutation in PRNP gene can have two phenotypic presentations - Fatal familial insomnia (FFI) or Creutzfeldt-Jacob Disease (CJD). The proband had heterozygous missense mutation in PRNP gene (D178N), which is common to CJD and FFI. A case of autosomal dominant ataxia with vocal cord palsy attributed to a mutation in the PRNP gene. [Extracted from the article]