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GENATLAS PHENOTYPE
last update : 21/08/2007
Symbol CJD
Location 20p12.3
Name Creutzfeldt-Jakob disease
Corresponding gene PRNP
Main clinical features
  • chronic spongiform dementia, mostly sporadic . began with forgetfulness and nervousness, and progressed to jerky, trembling movements of the hands, loss of facial expression, and unsteady gait . pathologic findings included severe status spongiosus, diffuse nerve cell degeneration, and some glial proliferation
    • Genetic determination autosomal dominant
    Related entries . atypical forms with dementia, due to insertional mutation(s) in PRNP . prion disease with protracted course (OMIM 606688 )
    Function/system disorder neurology
    psychiatric disorder
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     D178N, associated to phenotypic variability in familial prion disease
    Remark(s) somatically converted form of prion protein (PRNP) in familial CJD, polymorphism at codon 129 modulates the phenotype of sporadic forms VV enhances the production of proteinase resistant PRNP, MV facilitates its aggregation into amyloid plaques