Article
A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.
Archives of neurology - 1 Nov 2001
Panegyres P K, Toufexis K, Kakulas B A, Cernevakova L, Brown P, Ghetti B, Piccardo P, Dlouhy S R
Abstract excerpt
BACKGROUND: Gerstmann-Sträussler-Scheinker disease is a rare form of prion disease. OBJECTIVE: To determine the prion mutation in a 51-year-old man without a family history of neurologic disease who died from Gerstmann-Sträussler-Scheinker disease. PATIENT AND METHODS: The patient was a 51-year-old man who died after a 9-year illness characterized by dementia and eventually ataxia. Neuropathologic studies were...
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