Article
Unusual clinical and molecular-pathological profile of gerstmann-Sträussler-Scheinker disease associated with a novel PRNP mutation (V176G).
JAMA neurology - 1 Sept 2013
Simpson Marion, Johanssen Vanessa, Boyd Alison, Klug Genevieve, Masters Colin L, Li Qiao-Xin, Pamphlett Roger, McLean Catriona, Lewis Victoria, Collins Steven J
Abstract excerpt
IMPORTANCE: Here we describe the unusual clinical and molecular-neuropathological profile of a case of Gerstmann-Sträussler-Scheinker disease associated with a novel prion protein (PRNP) gene mutation. OBSERVATIONS: This case report from the Australian National Creutzfeldt-Jakob Disease Registry concerns a 61-year-old British-born woman with no history of neurodegenerative disorder in first-degree relatives....
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