Amyotrophic lateral sclerosis with SOD1 mutations shows distinct brain metabolic changes.

ABSTRACT:

Purpose

Neuropathological data suggest that ALS with SOD1 mutations (SOD1-ALS) is a distinct form of ALS. We evaluated brain metabolic changes characterizing SOD1-ALS as compared to sporadic ALS (sALS), employing ¹⁸fluorodeoxyglucose-positron-emission tomography (¹⁸F-FDG-PET).

Methods

We included 18 SOD1-ALS patients, 40 healthy controls (HC), and 46 sALS patients without mutations in SOD1, TARDBP, FUS, and C9ORF72, randomly selected from 665 subjects who underwent brain ¹⁸F-FDG-PET at diagnosis between 2008 and 2019 at the ALS Centre of Turin. We excluded patients with frontotemporal dementia. We used the full factorial design in SPM12 to evaluate whether differences among groups exist overall. In case the hypothesis was confirmed, group com

SUBMITTER: Canosa A 

PROVIDER: S-EPMC9165265 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature