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Creutzfeldt-Jakob disease (CJD) is a fatal neurodegenerative disease characterized by rapidly progressive dementia, cerebellar ataxia, myoclonus, parkinsonism, or various neurobehavioral symptoms due to tissue deposition of a misfolded prion protein.1 A genetic variant in the prion protein gene (PRNP) is the most common cause of familial CJD (fCJD) which accounts for only 10%–15% of all CJD patients.2,3 We report a rare case with a nucleotide substitution of an isoleucine for a valine at codon 180 (V180I) in PRNP, who presented with visual hallucinations and illusions.

Familial Creutzfeldt–Jakob Disease with a PRNP Mutation at Codon 180 Presented with Visual Hallucinations and Illusions