RT Journal Article SR Electronic T1 Clinical heterogeneity and unusual presentations of Creutzfeldt-Jakob disease in Jewish patients with the PRNP codon 200 mutation. JF Journal of Neurology, Neurosurgery & Psychiatry JO J Neurol Neurosurg Psychiatry FD BMJ Publishing Group Ltd SP 1109 OP 1112 DO 10.1136/jnnp.56.10.1109 VO 56 IS 10 A1 Chapman, J A1 Brown, P A1 Goldfarb, L G A1 Arlazoroff, A A1 Gajdusek, D C A1 Korczyn, A D YR 1993 UL http://jnnp.bmj.com/content/56/10/1109.abstract AB The cluster of Creutzfeldt-Jakob disease among Jews of Libyan origin is the largest in the world. It was found that the disease in this ethnic group is linked to a point mutation in codon 200 of the prion protein precursor gene. In this study the clinical data from 14 such patients 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, brainstem, cerebellar, and spinal cord dysfunction. Uncommon features included fatal insomnia in one patient, pruritus in another, and demyelinating peripheral neuropathy in two.