Gerstmann-Straussler-Scheinker syndrome

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Gerstmann-Straussler-Scheinker syndrome

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.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version September 2023.

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Advocacy Organizations

Genetic Support Network of Victoria

The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.

Clinical Trials

For a list of clinical trials in this disease area, please click here.