First familial cases of P102L Gerstmann–Sträussler–Scheinker syndrome in South Korea: diffusion-weighted imaging might reflect intrafamilial phenotypic variability

Introduction Gerstmann-Sträussler-Scheinker disease (GSS) is a rare genetic prion disease. Unlike sporadic Creutzfeldt-Jakob disease, GSS has diverse clinical phenotypes, including slowly progressive cerebellar ataxia. Due to this clinical feature and the extreme rarity of GSS, the disease can be mi...

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