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Differences in Cerebral Glucose Metabolism in ALS Patients with and without C9orf72 and SOD1 Mutations
- Source :
- Cells; Volume 12; Issue 6; Pages: 933
- Publication Year :
- 2023
- Publisher :
- Multidisciplinary Digital Publishing Institute, 2023.
-
Abstract
- Amyotrophic lateral sclerosis (ALS) is characterized by progressive loss of upper and lower motor neurons. In 10% of patients, the disorder runs in the family. Our aim was to study the impact of ALS-causing gene mutations on cerebral glucose metabolism. Between October 2010 and October 2022, 538 patients underwent genetic testing for mutations with strong evidence of causality for ALS and 18F-2-fluoro-2-deoxy-D-glucose-PET (FDG PET), at University Hospitals Leuven. We identified 48 C9orf72-ALS and 22 SOD1-ALS patients. After propensity score matching, two cohorts of 48 and 21 matched sporadic ALS patients, as well as 20 healthy controls were included. FDG PET images were assessed using a voxel-based and volume-of-interest approach. We observed widespread frontotemporal involvement in all ALS groups, in comparison to healthy controls. The degree of relative glucose metabolism in SOD1-ALS in motor and extra-motor regions did not differ significantly from matched sporadic ALS patients. In C9orf72-ALS, we found more pronounced hypometabolism in the peri-rolandic region and thalamus, and hypermetabolism in the medulla extending to the pons, in comparison to matched sporadic ALS patients. Our study revealed C9orf72-dependent differences in glucose metabolism in the peri-rolandic region, thalamus, and brainstem (i.e., medulla, extending to the pons) in relation to matched sporadic ALS patients. ispartof: CELLS vol:12 issue:6 ispartof: location:Switzerland status: published
- Subjects :
- genetic ALS
FDG PET
C9orf72
SOD1
General Medicine
Subjects
Details
- Language :
- English
- ISSN :
- 20734409
- Database :
- OpenAIRE
- Journal :
- Cells; Volume 12; Issue 6; Pages: 933
- Accession number :
- edsair.doi.dedup.....199ea2a1123ff018109231772f76c8d3
- Full Text :
- https://doi.org/10.3390/cells12060933