Work

IC‐P‐089: FDG‐PET and PiB‐PET imaging in asymptomatic at‐risk carriers of a novel octapeptide repeat insertion in PRNP

Year: 2013
Type: article
Study design: Observational Study
Abstract: We sought to characterize the fluorodeoxyglucose (FDG)-positron emission tomography (PET) and Pittsburgh Compound B (PiB)-PET findings among asymptomatic at-risk mutation carriers of a novel octapeptide repeat insertion in the prion protein gene (PRNP). The phenotype of the affected parents in this kindred is frontotemporal dementia plus ataxia. We hypothesized that mutation carriers would demonstrate regional or global hypometabolism on FDG-PET as well as increased uptake on PiB-PET (presumably due to labeling prion protein in amyloid sheets) compared to mutation noncarriers and controls. We performed FDG-PET and PiB-PET in at-risk members of this kindred, and compared the findings to a 2:1 age and sex-matched group of controls. The protocol was approved by the Mayo Foundation IRB. All participants provided written consent at entry into the study and remained blind to PET scan results. Four asymptomatic mutation carrier at risk family members aged 33–40 and 8 age and sex-matched controls underwent FDG-PET and PiB-PET imaging. Two of the mutation carriers had significantly higher PiB uptake in multiple regions of interest and globally compared to the other 10 participants (Figure). Two mutation carriers also had significant global FDG hypometabolism compared to the other 10. Figure. Neuroimaging data on subjects.
Language: English
Open Access status: bronze
OpenAlex ID: W2100634521
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