In vivo imaging of brain metabolism in asymptomatic C9orf72 repeat expansion carriers

Wismans, C. (2016) In vivo imaging of brain metabolism in asymptomatic C9orf72 repeat expansion carriers.

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Abstract:Objective: A presymptomatic phase of ALS will be investigated by the effect of brain metabolism due to C9orf72 repeat expansion before disease onset of ALS on the brain metabolism in asymptomatic C9orf72 repeat expansion carriers. Methods: In vivo imaging of brain metabolism was performed by using Proton Magnetic Resonance Spectroscopy at 7T to compare brain metabolism of 14 asymptomatic C9orf72 repeat expansion carriers to 18 noncarriers from the same large family with a history of C9orf72 related Amyotrophic Lateral Sclerosis (ALS). Brain metabolism in three brain regions that showed cortical thinning was compared. Post-processing was performed in Matlab. LCModel was used for fit analyses. Results: The comparison revealed trends of a lower level of NAA, glutamate and myo-inositol relative to creatine in asymptomatic C9orf72 repeat expansion carriers compared to their noncarrier relatives. A significant lower level of Glu/Cr and significant higher level of Glu/NAA was found in the left putamen of carriers compared to noncarriers. A slight decrease of GABA/Cr was found in the inferior parietal area. No differences in macromolecule levels between the groups were found. Conclusion: The findings suggest that metabolic changes are present in the brain of presymptomatic ALS patients, before expected clinical disease onset.
Item Type:Essay (Master)
Faculty:TNW: Science and Technology
Subject:44 medicine
Programme:Technical Medicine MSc (60033)
Link to this item:http://purl.utwente.nl/essays/71155
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