Article
Gerstmann-Sträussler-Scheinker disease and the French-Alsatian A117V variant.
Clinical and experimental pathology - 1 Jan 1999
Mohr M, Tranchant C, Steinmetz G, Floquet J, Grignon Y, Warter J M
Abstract excerpt
Gerstmann-Sträussler-Scheinker disease is a rare familial form of prion disease. This autosomal dominant disorder is constantly associated with a point mutation on the PrP gene. Eight mutations affecting respectively codons 102, 105, 117, 145, 202, 212 and 218, have been so far described. Symptoms are variable and include ataxia and dementia. They generally appear between the fourth and sixth decade. Mean...
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