title: Identification in Israel of 2 Jewish Creutzfeld-Jakob disease patients with a 178 mutation at their PrP gene.
abstract: Among the dozen known mutations in the PrP gene which segregate with the inherited prion diseases, only 2 mutations have been described in Israel so far: the codon 200 mutation in Creutzfeldt-Jakob disease (CJD) affected Libyan Jews, and the codon 102 mutation in 1 Jewish Gerstmann-Straussler-Scheinker (GSS) affected pedigree of German origin. We report here 2 unrelated CJD178 cases affected by a unique phenotype: aphemia, apraxia, uncontrolled laugh and no ataxia. As opposed to other CJD178 patients, in these patients, the signal transduction protein 14-3-3, recently suggested as a CJD marker, was detected in the cerebrospinal fluid samples by immunostaining. The D178N mutation, known to be linked to 2 different phenotypes: Fatal Familial Insomnia (FFI) and CJD, was not described so far among Jews. The phenotype reported here, although it shares a common Va1129/Asn178 haplotype with the previously described CJD178, may point to a different clinical subtype of CJD178.
authors.affiliation: Department of Neurology, Hadassah University Hospital, Jerusalem, Israel.
authors.forename: H
authors.initials: H
authors.lastname: Rosenmann
authors.forename: J
authors.initials: J
authors.lastname: Vardi
authors.forename: Y
authors.initials: Y
authors.lastname: Finkelstein
authors.forename: J
authors.initials: J
authors.lastname: Chapman
authors.forename: R
authors.initials: R
authors.lastname: Gabizon
mesh_terms: D001526:Behavioral Symptoms; D007562:Creutzfeldt-Jakob Syndrome / Q000134:cerebrospinal fluid / Q000145:classification / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D007557:Israel; D007585:Jews / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011328:Prions / Q000134:cerebrospinal fluid / Q000235:genetics*; D012426:Russia / Q000208:ethnology; D015022:Yugoslavia / Q000208:ethnology
chemical_list: D011328:Prions