Synaptic density in carriers of C9orf72 mutations: a [<sup>11</sup> C]UCB-J PET study.
Annals of clinical and translational neurology
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Malpetti, M., Holland, N., Jones, S., Ye, R., Cope, T., Fryer, T., Hong, Y., et al. (2021). Synaptic density in carriers of C9orf72 mutations: a [<sup>11</sup> C]UCB-J PET study.. Annals of clinical and translational neurology, 8 (7), 1515-1523. https://doi.org/10.1002/acn3.51407
Synaptic loss is an early and clinically relevant feature of many neurodegenerative diseases. Here we assess three adults at risk of frontotemporal dementia from C9orf72 mutation, using [11C]UCB-J PET to quantify synaptic density in comparison with nineteen healthy controls and one symptomatic patient with behavioural variant frontotemporal dementia. The three pre-symptomatic C9orf72 carriers showed reduced synaptic density in the thalamus compared to controls, and there was extensive synaptic loss in frontotemporal regions of the symptomatic patient. [11C]UCB-J PET may facilitate early, pre-symptomatic assessment, monitoring of disease progression, and evaluation of new preventive treatment strategies for frontotemporal dementia.
This study was co-funded by the Cambridge University Centre for Parkinson-Plus (RG95450); the National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre (BRC-1215-20014); a NIHR clinical lectureship to TEC; the Wellcome Trust (220258); the Association of British Neurologists, Patrick Berthoud Charitable Trust (RG99368); and Alzheimer’s Society (443 AS JF 18017).
Cambridge University Hospitals NHS Foundation Trust (CUH) (146281)
Wellcome Trust (220258/Z/20/Z)
WELLCOME TRUST (103838/Z/14/Z)
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External DOI: https://doi.org/10.1002/acn3.51407
This record's URL: https://www.repository.cam.ac.uk/handle/1810/323285
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