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    Background Inherited prion diseases are rare autosomal dominant disorders associated with diverse clinical presentations. All are associated with mutation of the gene that encodes prion protein (PRNP). Homozygous mutations with atypical clinical phenotypes have been described but are extremely rare. Case presentation A Chinese patient presented with a rapidly progressive cognitive and motor…

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    • Case report of homozygous E200D mutation of PRNP in apparently sporadic Creutzfeldt-Jakob disease https://t.co/BD2a25jlNv