Synonyms: Subacute spongiform encephalopathy, Gerstmann-Straussler type
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Childhood Dementia Initiative
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Curing single-gene disorders
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