Insomnia associated with thalamic involvement in E200K Creutzfeldt–Jakob disease

Abstract

Insomnia may be a prominent early symptom in cases of CJD linked to the E200K-129M haplotype in which the thalamus is severely affected.

D178N, 129Val and N171S, 129Val Genotype in a Family with Creutzfeldt-Jakob Disease

“…4, which contained Val at codon 129 of the normal allele. As demonstrated elsewhere, clinical phenotype does not always directly correlate with genotype as demonstrated by gCJD cases caused by several mutations presenting with insomnia [18,19] and the lack of insomnia in neuropathologically confirmed cases of FFI [20][21][22] .…”

Mutations in the Amino Terminus of Foamy Virus Gag Disrupt Morphology and Infectivity but Do Not Target Assembly

“…The aberrant shape component of the v-src M mutant phenotype is attributable, at least in large part, to the three mutant lysine residues. Although there is little evidence that mutant lysine residues are directly disruptive to protein structure, it is interesting to note that a glutamic acid-to-lysine (E200K) mutation in the human prion protein PrP sc is the single most common mutation found in human sporadic Creutzfeld-Jacob disease, where the PrP sc has an abnormal, pathogenic conformation (3,38). It is also of note that the WT FV Gag is unique among retroviral Gag proteins in that it contains only one lysine residue.…”

Familial Creutzfeldt-Jakob Disease with a Codon 200 Mutation Presenting as Thalamic Syndrome: Diagnosis by Single Photon Emission Computed Tomography using 99mTc-ethyl Cysteinate Dimer

“…The thalamic form of CJD, characterized by severe degeneration of the thalamus and inferior olivary nuclei, has been reported in some prion diseases including FFI (6), the MM2-thalamic form of sCJD (2), and fCJD (E200K) (3). Sporadic CJD has been classified on the basis of the genotype at polymorphic codon 129 of the PrP and the physicochemical properties of the pathologic PrP; various classification systems have been proposed (7)(8)(9)(10)(11).…”