@article{9ea85eefc6594153a954390ce6fd91b4,
title = "Tau positron emission tomography imaging in C9orf72 repeat expansion carriers",
abstract = "Background and purpose: AV-1451 (18F-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",
author = "Ly, {C. V.} and L. Koenig and J. Christensen and B. Gordon and H. Beaumont and S. Dahiya and J. Chen and Y. Su and B. Nelson and J. Jockel-Balsarotti and C. Drain and G. Jerome and Morris, {J. C.} and Fagan, {A. M.} and Harms, {M. B.} and Benzinger, {T. L.S.} and Miller, {T. M.} and Ances, {B. M.}",
note = "Funding Information: The WU Knight Alzheimer's Research Imaging Program and the Knight ADRC clinical core are thanked for participant assessments. Ms Marina Platik is thanked for optimizing the immunohistochemistry protocols. Our research participants and their families are also thanked. Funding Information: Funding for the study was received from a Washington University McDonnell Center grant; National Institutes of Health T32 Training grant NS007205 (Dr Ly); American Academy of Neurology/ ALS Association Clinical Research Training fellowship (Dr Ly); National Institute of Health grant K08NS107621; National Institute of Neurological Disease and Stroke grant P30 NS048056; the Hope Center for Neurodegenerative Disorders (Dr Benzinger); the Barnes-Jewish Hospital Foundation Will-man Scholar Fund (Dr Gordon); the American Society for Neuroradiology (Dr Gordon); National Institute of Health grant K01AG053474 (Dr Gordon); National Institute of Health grants P01AG03991, P50AG005681, P01AG026276, UL1TR000448, P30NS098577. Dr Ances is funded by grants R01NR012907, R01NR012657, R01NR014449, 1R01AG057680, 1R01AG052550 from the National Institutes of Health and from the Paula and Rodger O Riney Fund. Dr Miller is funded by grants R01NS078398 and R01NS097816 from the National Institutes of Health. Dr. Miller reports support for clinical studies and is a medical advisor for Biogen, material support and licensing agreement with Ionis Pharmaceuticals, licensing agreement with C2N, and consultais a consultant for Cytokinetics. Support from Avid Radiopharmaceuticals (a wholly owned subsidiary of Eli Lilly) included provision of the precursor to AV-1451 and radiochemistry support. Publisher Copyright: {\textcopyright} 2019 EAN",
year = "2019",
doi = "10.1111/ene.13940",
language = "English",
volume = "26",
pages = "1235--1239",
journal = "European Journal of Neurology",
issn = "1351-5101",
number = "9",
}