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

Abstract

The c.341G>T (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.