Background: C9orf72 hexanucleotide repeat expansions are associated with widespread
cerebral alterations, including white matter alterations. However, there is lack of information …

Objective: To describe the patterns of cortical and subcortical changes in amyotrophic lateral
sclerosis (ALS) stratified for the C9orf72 genotype. Methods: A prospective, single-center …

Background Diffusion tensor imaging (DTI) can identify amyotrophic lateral sclerosis (ALS)-
associated patterns of brain alterations at the group level according to a neuropathological …

Objective C9orf72 mutation carriers with different neurological phenotypes show cortical and
subcortical atrophy in multiple different brain regions, even in pre-symptomatic phases …

Objective: To investigate possible effects of the C9orf72 repeat expansion before disease
onset, we assessed brain morphology in asymptomatic carriers. Methods: Aiming to diminish …

Background In patients with a C9orf72 repeat expansion (C9+), a neuroimaging phenotype
with widespread structural cerebral changes has been found. We aimed to investigate the …

The development of new possible treatments for C9orf72-related ALS and the possibility of
early identification of subjects genetically at risk of developing the disease is creating a …

Background: While frontotemporal involvement is increasingly recognized in Amyotrophic
lateral sclerosis (ALS), the degeneration of limbic networks remains poorly characterized …

Expansion mutations in the C9orf72 gene may cause amyotrophic lateral sclerosis (ALS),
frontotemporal dementia (FTD), or mixtures of the two clinical phenotypes. Different imaging …

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are part of the same
disease spectrum. While thalamic–cerebellar degeneration has been observed in C9orf72 …