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Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy Bertoni. J. M. , et al, JAMA 268:2413-2415., , 1992 See this aricle in Pubmed Article Abstract Nine family members had progressive fatal neurological disease consistent with CJD without myoclonus or typical electroencephalographic findings. Supranuclear gaze palsy was present in all five patients who underwent eye examinations.Two neuropathologically confirmed cases and five of nine at- risk family members had an identical mutation(GAG to AAG,glutamic acid to lysine in codon 200 of the amyloid gene(PRNP)on chromosome 20.Clinically atypical CJD with early supranuclear gaze palsy but without myoclonus or characteristic electroencephalographic periodicity patterns is associated with the codon 200 Lys mutation in the largest CJD kindred yet reported. The clinical concept of familial CJD should be enlarged to include this unusual phenotype.

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(click to filter results - removes previous filter) Creutzfeldt-Jakob disease,genetic dementia dementia,rapidly progressive electroencephalogram familial gaze palsy gaze palsy,supranuclear genetic linkage Jakob-Creutzfeldt disease molecular genetics polymerase chain reaction

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