LETTERS TO THE EDITOR Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia

Abstract

Fatal familial insomnia (FFI) is a prion disease clinically characterised by progressive insomnia and dysautonomia, and associated with an aspartic acid to asparagine mutation at the codon 178 (D178N) of the prion protein gene (PRNP). This mutation is also associated with familial Creutzfeldt-Jakob disease (CJD). These phenotypes have been held to depend on… (More)

Topics

  • Presentations referencing similar topics