Amyotrophic lateral sclerosis (ALS) is an incurable and fatal neurodegenerative disease, which is caused by a C9orf72 repeat expansion in 9% of the cases. This mutation may cause changes of brain metabolism in patients but whether it affects brain metabolism in pre-symptomatic mutation carriers was not studied before. We used 7 Tesla magnetic resonance spectroscopic imaging (MRSI) to study brain metabolism in asymptomatic carriers of the C9orf72 repeat expansion and found lower concentrations of glutamate and N-acetylaspartate+N-acetylaspartylglutamate in the left putamen compared to non-carriers. This might indicate asymptomatic neuronal loss, a developmental defect or possibly a protective mechanism against ALS.
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