CLINICAL HETEROGENEITY AND UNUSUAL PRESENTATIONS OF CREUTZFELDT-JAKOB-DISEASE IN JEWISH PATIENTS WITH THE PRNP CODON 200 MUTATION

The cluster of Creutzfeldt-Jakob disease among Jews of Libyan origin i s the largest in the world. It was found that the disease in this ethn ic group is linked to a point mutation in codon 200 of the prion prote in precursor gene. In this study the clinical data from 14 such patien ts are described, demonstrating wide phenotypic heterogeneity. The age of onset ranged from 34 to 65 years and the duration of disease from 2 to 66 months. Clinical features included cerebral, basal ganglia, br ainstem, cerebellar, and spinal cord dysfunction. Uncommon features in cluded fatal insomnia in one patient, pruritus in another, and demyeli nating peripheral neuropathy in two.