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Abstract #0028

Metabolic differences between asymptomatic C9orf72 carriers and non-carriers assessed by brain 7T MRSI.

Henk-Jan Westeneng1, Carrie Wismans1, Abram D. Nitert1, Renée Walhout1, Peter R. Luijten2, Jannie P. Wijnen2, and Leonard H. van den Berg1

1Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, Netherlands, 2Department of Radiology, University Medical Center Utrecht, Utrecht, Netherlands

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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