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Familial Creutzfeldt-Jakob Disease with V180I Mutation

1 Jan 2010

Abstract excerpt

Creutzfeldt-Jakob disease (CJD) is an uncommon neurodegenerative disorder with an incidence of 1 per 1000,000 per year typically characterized by rapidly progressive dementia, ataxia, myoclonus and behavioral changes. Genetic prion diseases, which develop due to a mutations in the prion protein gene (PRNP), account for an estimated 10 to 15% of all CJD cases. We report a 75-yr-old woman with familial CJD carrying...

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PMID: 20592908
DOI: 10.3346/jkms.2010.25.7.1097

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