Tau positron emission tomography imaging in C9orf72 repeat expansion carriers
| Autor: | Brittany Nelson, Jie Chen, Jennifer Jockel-Balsarotti, Anne M. Fagan, Helen Beaumont, Caroline Drain, Brian A. Gordon, Yi Su, Beau M. Ances, Sonika Dahiya, Timothy M. Miller, Jon Christensen, Tammie L.S. Benzinger, John C. Morris, Gina Jerome, Lauren N. Koenig, Cindy V. Ly, Matthew B. Harms |
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| Rok vydání: | 2019 |
| Předmět: |
Male
Heterozygote Pathology medicine.medical_specialty tau Proteins Standardized uptake value Article Cohort Studies 03 medical and health sciences 0302 clinical medicine Cerebrospinal fluid C9orf72 medicine Entorhinal Cortex Humans Cognitive Dysfunction 030212 general & internal medicine Amyotrophic lateral sclerosis Aged DNA Repeat Expansion C9orf72 Protein medicine.diagnostic_test business.industry Middle Aged medicine.disease Entorhinal cortex Tauopathies Neurology Positron emission tomography Positron-Emission Tomography Female Neurology (clinical) Tauopathy business Trinucleotide repeat expansion 030217 neurology & neurosurgery |
| Zdroj: | Eur J Neurol |
| ISSN: | 1468-1331 1351-5101 |
| DOI: | 10.1111/ene.13940 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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