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Longitudinal clinical, neuropsychological, and neuroimaging characterization of a kindred with a 12-octapeptide repeat insertion in PRNP: the next generation.
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.
Affiliation
  • Townley RA; Department of Neurology, University of Kansas Medical Center , Kansas City, KS, USA.
  • Polsinelli AJ; Department of Neurology, Indiana University School of Medicine , Indianapolis, IN, USA.
  • Fields JA; Department of Psychiatry and Psychology, Mayo Clinic , Rochester, MN, USA.
  • Machulda MM; Department of Psychiatry and Psychology, Mayo Clinic , Rochester, MN, USA.
  • Jones DT; Department of Neurology, Mayo Clinic , Rochester, MN, USA.
  • Graff-Radford J; Department of Diagnostic Radiology, Mayo Clinic , Rochester, MN, USA.
  • Kantarci KM; Department of Neurology, Mayo Clinic , Rochester, MN, USA.
  • Lowe VJ; Department of Diagnostic Radiology, Mayo Clinic , Rochester, MN, USA.
  • Rademakers RV; Department of Diagnostic Radiology, Mayo Clinic , Rochester, MN, USA.
  • Baker MC; Department of Neuroscience, Mayo Clinic , Jacksonville, FL, USA.
  • Kumar N; Department of Neuroscience, Mayo Clinic , Jacksonville, FL, USA.
  • Boeve BF; Department of Neurology, Mayo Clinic , Rochester, MN, USA.
Neurocase ; 26(4): 211-219, 2020 08.
Article in En | MEDLINE | ID: mdl-32602775
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.
Subject(s)
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Frontotemporal Dementia / Prion Proteins Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Adult / Humans / Middle aged Language: En Journal: Neurocase Journal subject: CIENCIAS DO COMPORTAMENTO / NEUROLOGIA / PSICOLOGIA / PSIQUIATRIA Year: 2020 Document type: Article Affiliation country: Estados Unidos Country of publication: Reino Unido

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Frontotemporal Dementia / Prion Proteins Type of study: Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Adult / Humans / Middle aged Language: En Journal: Neurocase Journal subject: CIENCIAS DO COMPORTAMENTO / NEUROLOGIA / PSICOLOGIA / PSIQUIATRIA Year: 2020 Document type: Article Affiliation country: Estados Unidos Country of publication: Reino Unido