Article
Gerstmann-Sträussler-Scheinker disease with A117V mutation in a second French-Alsatian family.
Clinical neuropathology - 1 Jan 2000
Heldt N, Boellaard J W, Brown P, Cervenákova L, Doerr-Schott J, Thomas C, Scherer C, Rohmer F
Abstract excerpt
We report a kindred of French/Alsatian origin with symptoms of Gerstmann-Sträussler-Scheinker disease over 3 generations. In the propositus, cerebellar signs and memory disturbance were the presenting features, followed by other neurological manifestations. Biopsy of the cerebral cortex showed numerous multicentric and "kuru"-type amyloid plaques that on immuno-light and electron microscopy stained with antibody...
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