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Gerstmann-Straussler-Scheinker syndrome

Disease definition

A rare inherited human prion disease characterized by adult onset of slowly progressive cerebellar ataxia, with dementia developing relatively late in the disease course (classic ataxic phenotype). Patients may present with gait disturbances and frequent falls, dysarthria, dysphagia, nystagmus, dysmetry, and eventually pancerebellar syndrome, myoclonus, spasticity, severe dementia, and mutism. The disease is invariably fatal after five years on average. Neuropathological hallmark is the presence of numerous multicentric prion protein plaques in the cerebral and cerebellar cortex.


Classification level: Disorder
  • Synonym(s):
    • Subacute spongiform encephalopathy, Gerstmann-Straussler type
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Adult
  • ICD-10: A81.8
  • ICD-11: 8E02.1
  • OMIM: 137440
  • UMLS: C0017495
  • MeSH: D016098
  • GARD: 7690
  • MedDRA: 10072075

Detailed information


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