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The c.341Gu003eT (p.G114V) variant of the prion protein gene ( PRNP ) has been reported in a Uruguayan and a Chinese family to cause an inheritable prion disease, albeit with incomplete penetrance. The condition is characterized by early-onset, relatively prolonged course, early neuropsychiatric symptoms, followed by pyramidal and extrapyramidal symptoms. We present a 20-year-old African American woman, with no family history of neurodegenerative disease, who presented with rapidly progressive cognitive decline and subsequent movement disorders who was found to have the PRNP variant.

Twenty-year-old African American woman with prion disease associated with the G114V PRNP variant