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GENATLAS PHENOTYPE
last update : 13/07/2006
Symbol IDTF
Location 20p13
Name insomnia-dysautonomia thalamic syndrome
Other name(s) fatal familial insomnia
Corresponding gene PRNP
Other symbol(s) FFI
Main clinical features
  • associated with organic dementia, neuronal loss, also gliosis in the thalamus and spongiosis of the cortex (evolution linked to PRN polymorphism)
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    psychiatric disorder
    Type disease
    Gene product
    Name prion protein (PRNP)
    Remark(s)