IDENTIFICATION IN ISRAEL OF 2 JEWISH CREUTZFELDT-JAKOB-DISEASE PATIENTS WITH A 178 MUTATION AT THEIR PRP GENE

Among the dozen known mutations in the PrP gene which segregate with t he inherited prion diseases, only 2 mutations have been described in I srael so far: the codon 200 mutation in Creutafeldt-Jakob disease (CJD ) affected Libyan Jews, and the codon 102 mutation in 1 Jewish Gerstma nn-Straussler-Scheinker (GSS) affected pedigree of German origin. We r eport here 2 unrelated CJD(178) cases affected by a unique phenotype: aphemia, apraxia, uncontrolled laugh and no ataxia. As opposed to othe r CJD(178) patients, in these patients, the signal transduction protei n 14-3-3, recently suggested as a CJD marker, was detected in the cere brospinal fluid samples by immunostaining. The D178N mutation, known t o be linked to 2 different phenotypes: Fatal Familial Insomnia (FFI) a nd CJD, was not described so far among Jews. The phenotype reported he re, although it shares a common Val(129)/Asn(178) haplotype with the p reviously described CJD(178), may point to a different clinical subtyp e of CJD(178).