C9orf72 ALS mutation carriers show extensive cortical and subcortical damage compared to matched wild-type ALS patients.

ABSTRACT:

Objective

C9orf72 mutation carriers with different neurological phenotypes show cortical and subcortical atrophy in multiple different brain regions, even in pre-symptomatic phases. Despite there is a substantial amount of knowledge, small sample sizes, clinical heterogeneity, as well as different choices of image analysis may hide anatomical abnormalities that are unique to amyotrophic lateral sclerosis (ALS) patients with this genotype or that are indicative of the C9orf72-specific trait overlain in fronto-temporal dementia patients.

Methods

Brain structural and resting state functional magnetic imaging was obtained in 24 C9orf72 positive (ALSC9+) ALS patients paired for burden disease with 24 C9orf72 negative (ALSC9-) ALS patients. A comprehensive structural evaluation of

SUBMITTER: Nigri A 

PROVIDER: S-EPMC10130353 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature