Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion in PRNP: the next generation. Issue 4 (3rd July 2020)

• Record Type: Journal Article
• Authors: Townley, Ryan A.; Polsinelli, Angelina J.; Fields, Julie A.; Machulda, Mary M.; Jones, David T.; Graff-Radford, Jonathan; Kantarci, Kejal M.; Lowe, Val J.; Rademakers, Rosa V.; Baker, Matt C.; Kumar, Neeraj; Boeve, Bradley F.
• Is Part Of: Neurocase. Volume 26:Issue 4(2020)
• Page Start: 211
• Page End: 219
• Publication Date: 2020-07-03
• Subjects: Genetic prion -- neuropsychological -- neuroimaging -- FDG-PET -- octapeptide repeat insertion; Neurology -- Periodicals; Neuropsychology -- Case Report; Mental Disorders -- Case Report; Nervous System Diseases -- Case Report; 616.8
• DOI: 10.1080/13554794.2020.1787458
• Languages: English
• ISSNs: 1355-4794

Abstract

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. Conclusions and relevance: Gene silencing treatments are on the horizon and when they become available, early detection will be crucial. Longitudinal studies involving familial mutation kindreds can offer important insights into the initial neuropsychological and neuroimaging changes necessary for early detection.