Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) With Supranuclear Palsy

Abstract

Clinically atypical CJD with early supranuclear gaze palsy but without myoclonus or characteristic electroencephalographic periodicity patterns is associated with the codon 200Lys mutation in the largest CJD kindred yet reported. The clinical concept of familial CJD should be enlarged to include this unusual phenotype.