Keywords: Dementia, Spectroscopy, High-field MRI
Motivation: Frontotemporal lobar degeneration is a neurodegenerative disorder with atrophy and protein accumulation most prominently in the frontal and temporal lobes. Neuroinflammation is involved in the disease process, but the timing and role are unclear.
Goal(s): Our aim is to study neurodegenerative and neuroinflammatory changes in patients, presymptomatic carriers, and controls.
Approach: In this preliminary analysis, we used ultrahigh-field ¹H-MRS in presymptomatic C9orf72-carriers (n=14), and controls (n=17).
Results: We found a significant reduction in the neuronal marker (NAA/tCr) in the C9orf72 carriers compared to controls. We will continue data acquisition to expand statistical analysis to the full cohort, including patients, presymptomatic carriers, and controls.
Impact: This is the first study to use 7T MRS in presymptomatic carriers of the C9orf72-repeat expansion. We found decreased N-acetyl-aspartate/total creatine ratio, suggesting neuronal viability loss before symptom onset, whereas we found no signs of presymptomatic neuroinflammation.
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