En autosomalt dominant, ärftlig prionsjukdom med ett brett spektrum av kliniska företeenden, inkl. ataxi, spastisk parapares, extrapyramidala tecken och demens. Den kliniska debuten inträffar mellan livets tredje och sjätte årtionde, och tiden fram till döden är ca fem år. Flera likartade varianter med olika kliniska och patologiska särdrag har beskrivits. Till de patologiska dragen hör cerebral prionprotein amyloidos och svampliknande eller nervtrådsdegenerering.
An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ATAXIA, spastic paraparesis, extrapyramidal signs, and DEMENTIA. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration. (From Brain Pathol 1998 Jul;8(3):499-513; Brain Pathol 1995 Jan;5(1):61-75)
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Gerstmann Straussler Scheinker Disease — Gerstmann-Straussler Inherited Spongiform Encephalopathy — Gerstmann Straussler Inherited Spongiform Encephalopathy — Gerstmann-Straussler Disease — Disease, Gerstmann-Straussler — Diseases, Gerstmann-Straussler — Gerstmann Straussler Disease — Gerstmann-Straussler Diseases — Gerstmann-Straussler-Scheinker Syndrome — Gerstmann Straussler Scheinker Syndrome — Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type — Gerstmann-Straussler Syndrome — Gerstmann Straussler Syndrome — Inherited Spongiform Encephalopathy, Gerstmann-Straussler — Inherited Spongiform Encephalopathy, Gerstmann Straussler