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1. Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion in PRNP: the next generation

Author

Angelina J. Polsinelli, Julie A. Fields, Matt Baker, Neeraj Kumar, Val J. Lowe, David T.W. Jones, Mary M. Machulda, Rosa Rademakers, Bradley F. Boeve, Jonathan Graff-Radford, Kejal Kantarci, and Ryan A. Townley

Subjects
business.industry, animal diseases, 05 social sciences, Neuropsychology, 050105 experimental psychology, nervous system diseases, PRNP, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Arts and Humanities (miscellaneous), chemistry, Neuroimaging, Medicine, 0501 psychology and cognitive sciences, Human medicine, Neurology (clinical), Prion protein, Penetrant (biochemical), business, Biology, Neuroscience, 030217 neurology & neurosurgery
Abstract

Background Highly penetrant inherited mutations in the prion protein gene (PRNP) offer a window to study the pathobiology of prion disorders. Method Clinical, neuropsychological, and neuroimaging characterization of a kindred. Results Three of four mutation carriers have progressed to a frontotemporal dementia phenotype. Declines in neuropsychological function coincided with changes in FDG-PET at the identified onset of cognitive impairment.

Published
2020
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