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 …

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

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 …

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 The characterisation of presymptomatic disease-burden patterns in
asymptomatic mutation carriers has a dual academic and clinical relevance. The …

Objective Expansions of a hexanucleotide repeat in C9ORF72 are a common cause of
familial amyotrophic lateral sclerosis (ALS) and a small proportion of sporadic ALS cases …

We investigated whether the C9orf72 repeat expansion is associated with specific clinical
features, comorbidities, and prognosis in patients with amyotrophic lateral sclerosis (ALS). A …

We aimed to assess the brain signature of cognitive and behavioral impairment in C9orf72-
negative non-demented ALS patients. The study included 50 amyotrophic lateral sclerosis …

Purpose Recently, a GGGGCC hexanucleotide repeat expansion in the C9ORF72 gene,
located on chromosome 9p21 has been demonstrated to be the commonest cause of …