Synaptic density in carriers of C9orf72 mutations: a [11C]UCB‐J PET study

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 19 healthy controls and one symptomatic patient wit...

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Bibliographic Details
Published in:Annals of clinical and translational neurology 2021-07, Vol.8 (7), p.1515-1523
Main Authors: Malpetti, Maura, Holland, Negin, Jones, P. Simon, Ye, Rong, Cope, Thomas E., Fryer, Tim D., Hong, Young T., Savulich, George, Rittman, Timothy, Passamonti, Luca, Mak, Elijah, Aigbirhio, Franklin I., O’Brien, John T., Rowe, James B.
Format: Article
Language:English
Subjects:
Age
Amyotrophic lateral sclerosis
Apathy
Asymptomatic
Biomarkers
Brain research
Brief Communication
Brief Communications
C9orf72 Protein - genetics
C9orf72 Protein - metabolism
Carbon Radioisotopes - metabolism
Dementia
Disease
Family medical history
Female
Frontotemporal Dementia - diagnostic imaging
Frontotemporal Dementia - genetics
Frontotemporal Dementia - metabolism
Heterozygote
Humans
Hypotheses
Male
Memory
Middle Aged
Mutation
Mutation - genetics
Positron-Emission Tomography - methods
Pyridines - metabolism
Pyrrolidinones - metabolism
Regions
Synapses - genetics
Synapses - metabolism
Volumetric analysis
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Summary: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 19 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 an additional 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.
ISSN:2328-9503
2328-9503
DOI:10.1002/acn3.51407