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References OMIM Gene GeneReviews HGMD HGNC
last update : 28-03-2009
Symbol GSSS
Location 20p13
Name Gerstmann-Sträussler-Scheinker disease
Other name(s)
  • encephalopathy, subacute, spongiform, Gerstmann-Strausssler type
  • Gerstmann-Sträussler disease
  • cerebellar ataxia, progressive dementia, and amyloid deposits in CNS
  • prion dementia
  • Corresponding gene PRNP
    Other symbol(s) GSD, GSSD
    Main clinical features
  • cerebellar ataxia, gait disturbance, progressive dementia, with numerous neurofibrillary tangles in cerebral cortex, thalamus, substantia nigra, periaqueductal gray matter, progressive supranuclear palsy-like syndrome
  • Genetic determination autosomal dominant
    Related entries including a mild form with ataxia without cognitive impairment
    Function/system disorder neurology
    psychiatric disorder
    Type disease
    Gene product
    Name prion protein (PRNP)
    Genotype/Phenotype correlations A133V mutation associated to progressive supranuclear palsy-like syndrome (PMID: 17353478))