Gerstmann-Straussler-Scheinker syndrome
MONDO:0007656
A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.
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Directly mapped studies only · unique clinical trialsCurrent registry observations. Phase counts may overlap. Study start dates are not registry registration dates. Investigational interventions are not approved-treatment recommendations.
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Gerstmann–Sträussler–Scheinker syndrome
Gerstmann–Sträussler–Scheinker syndrome (GSS) is an extremely rare, invariably fatal neurodegenerative disease that usually affects patients from 35 to 55 years in age. It is exclusively heritable in an autosomal dominant manner, and is found in only a few families around the world. GSS is considered a transmissible spongiform encephalopathy (TSE) due to the causative role played by the PRNP gene, which encodes for the human prion protein. It was discovered by Josef Gerstmann, Ernst Sträussler, and Ilya Scheinker in 1936. Certain symptoms are common to GSS, such as progressive ataxia, pyramidal signs, and dementia; they worsen as the disease progresses. Much like Creutzfeldt-Jakob disease, Gerstmann–Sträussler–Scheinker syndrome has significant variety in presentation.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.