Tau positron emission tomography imaging in C9orf72 repeat expansion carriers
C V Ly, L Koenig, J Christensen, B Gordon, H Beaumont, S Dahiya, J Chen, Y Su, B Nelson, J Jockel-Balsarotti, C Drain, G Jerome, J C Morris, A M Fagan, M B Harms, T L S Benzinger, T M Miller, B M Ances, C V Ly, L Koenig, J Christensen, B Gordon, H Beaumont, S Dahiya, J Chen, Y Su, B Nelson, J Jockel-Balsarotti, C Drain, G Jerome, J C Morris, A M Fagan, M B Harms, T L S Benzinger, T M Miller, B M Ances
Abstract
Background and purpose: AV-1451 (18 F-AV-1451, flortaucipir) positron emission tomography was performed in C9orf72 expansion carriers to assess tau accumulation and disease manifestation.
Methods: Nine clinically characterized C9orf72 expansion carriers and 18 age- and gender- matched cognitively normal individuals were psychometrically evaluated and underwent tau positron emission tomography imaging. The regional AV-1451 standard uptake value ratios from multiple brain regions were analyzed. Spearman correlation was performed to relate the AV-1451 standard uptake value ratio to clinical, psychometric and cerebrospinal fluid measures.
Results: C9orf72 expansion carriers had increased AV-1451 binding in the entorhinal cortex compared to controls. Primary age-related tauopathy was observed postmortem in one patient. AV-1451 uptake did not correlate with clinical severity, disease duration, psychometric performance or cerebrospinal fluid markers.
Conclusion: C9orf72 expansion carriers exhibited increased AV-1451 uptake in entorhinal cortex compared to cognitively normal controls, suggesting a propensity for primary age-related tauopathy. However, AV-1451 accumulation was not associated with psychometric performance in our cohort.
Keywords: AV-1451; C9orf72; amyotrophic lateral sclerosis; positron emission tomography; tau.
Conflict of interest statement
CONFLICT OF INTEREST
© 2019 EAN.
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Source: PubMed