Dictionary of Human Evolution and Biology

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Gerstmann-Straussler-Scheinker Disease

Rare familial disease thought in the 1980s to exhibit an autosomal dominant mode of inheritance. Onset is typically in the 4th-5th decades. It was noted in cases such as a family of sheepherders who exhibited ataxia, progressive dementia, and absence of lower limb reflexes. Course of the disease is 2-10 years; amyloid plaques are found on autopsy and GSSD was later reclassified as one of the human transmissible spongiform encephalopathies (TSEs) similar to Kuru and nvCJD. Like these other diseases associated with the prion protein, GSSD is characterized by certain predisposing genotypes, in this case a proline to leucine substitutional mutation at position 101, as well as valine at positions 117 and 129. Aka Gerstmann-Straussler syndrome (GSS), subacute spongiform encephalopathy, prion dementia.

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