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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.
ORPHA:356
Classification level: DisorderDetailed information
Professionals
- Anesthesia guidelines
- English (2021)
- Español (2021)
- Clinical genetics review
- English (2021)
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