Longitudinal Clinical, Neuropsychological, and Neuroimaging Characterization of a Kindred with a 12-Octapeptide Repeat Insertion in PRNP: The Next Generation

dc.contributor.authorTownley, Ryan A.
dc.contributor.authorPolsinelli, Angelina J.
dc.contributor.authorFields, Julie A.
dc.contributor.authorMachulda, Mary M.
dc.contributor.authorJones, David T.
dc.contributor.authorGraff-Radford, Jonathan
dc.contributor.authorKantarci, Kejal M.
dc.contributor.authorLowe, Val J.
dc.contributor.authorRademakers, Rosa V.
dc.contributor.authorBaker, Matt C.
dc.contributor.authorKumar, Neeraj
dc.contributor.authorBoeve, Bradley F.
dc.contributor.departmentNeurology, School of Medicineen_US
dc.date.accessioned2023-03-03T16:42:32Z
dc.date.available2023-03-03T16:42:32Z
dc.date.issued2020-08
dc.description.abstractBackground: 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.en_US
dc.eprint.versionAuthor's manuscripten_US
dc.identifier.citationTownley RA, Polsinelli AJ, Fields JA, et al. Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion in PRNP: the next generation. Neurocase. 2020;26(4):211-219. doi:10.1080/13554794.2020.1787458en_US
dc.identifier.urihttps://hdl.handle.net/1805/31595
dc.language.isoen_USen_US
dc.publisherTaylor & Francisen_US
dc.relation.isversionof10.1080/13554794.2020.1787458en_US
dc.relation.journalNeurocaseen_US
dc.rightsPublisher Policyen_US
dc.sourcePMCen_US
dc.subjectGenetic prionen_US
dc.subjectNeuroimagingen_US
dc.subjectNeuropsychologicalen_US
dc.subjectOctapeptide repeat insertionen_US
dc.titleLongitudinal Clinical, Neuropsychological, and Neuroimaging Characterization of a Kindred with a 12-Octapeptide Repeat Insertion in PRNP: The Next Generationen_US
dc.typeArticleen_US
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