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  • Title: Creutzfeldt-Jakob disease associated with a V203I homozygous mutation in the prion protein gene.
    Author: Komatsu J, Sakai K, Hamaguchi T, Sugiyama Y, Iwasa K, Yamada M.
    Journal: Prion; 2014; 8(5):336-8. PubMed ID: 25495585.
    Abstract:
    We report a Japanese patient with Creutzfeldt-Jakob disease (CJD) with a V203I homozygous mutation of the prion protein gene (PRNP). A 73-year-old woman developed rapidly progressive gait disturbance and cognitive dysfunction. Four months after the onset, she entered a state of an akinetic mutism. Gene analysis revealed a homozygous V203I mutation in the PRNP. Familial CJD with a V203I mutation is rare, and all previously reported cases had a heterozygous mutation showing manifestations similar to those of typical sporadic CJD. Although genetic prion diseases with homozygous PRNP mutations often present with an earlier onset and more rapid clinical course than those with heterozygous mutations, no difference was found in clinical phenotype between our homozygous case and reported heterozygous cases.
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