[HTML][HTML] C9orf72 repeat length might influence clinical sub-phenotypes in dementia patients

T König, R Wurm, T Parvizi, S Silvaieh, C Hotzy… - Neurobiology of …, 2022 - Elsevier
Background C9orf72 repeat expansions have been observed in a wide variety of
neurodegenerative disorders. The cut-off between normal and pathogenic alleles is not well …

Distinct patterns of progressive gray and white matter degeneration in amyotrophic lateral sclerosis

A Ishaque, D Ta, M Khan, L Zinman… - Human Brain …, 2022 - Wiley Online Library
Progressive cerebral degeneration in amyotrophic lateral sclerosis (ALS) remains poorly
understood. Here, three‐dimensional (3D) texture analysis was used to study longitudinal …

Language deficits in primary lateral sclerosis: cortical atrophy, white matter degeneration and functional disconnection between cerebral regions

EL Tan, M Tahedl, J Lope, JC Hengeveld… - Journal of …, 2024 - Springer
Background Primary lateral sclerosis (PLS) is traditionally regarded as a pure upper motor
neuron disorder, but recent cases series have highlighted cognitive deficits in executive and …

Resting‐state fMRI functional connectome of C9orf72 mutation status

M Stanziano, D Fedeli, U Manera… - Annals of Clinical …, 2024 - Wiley Online Library
Objective The resting‐state functional connectome has not been extensively investigated in
amyotrophic lateral sclerosis (ALS) spectrum disease, in particular in relationship with …

[HTML][HTML] C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role?

C Sellier, P Corcia, P Vourc'h, L Dupuis - Revue Neurologique, 2024 - Elsevier
The major gene underlying monogenic forms of amyotrophic lateral sclerosis (ALS) and
fronto-temporal dementia (FTD) is C9ORF72. The causative mutation in C9ORF72 is an …

The involvement of language‐associated networks, tracts, and cortical regions in frontotemporal dementia and amyotrophic lateral sclerosis: Structural and functional …

M Tahedl, EL Tan, RH Chipika, J Lope… - Brain and …, 2023 - Wiley Online Library
Background Language deficits are cardinal manifestations of some frontotemporal dementia
(FTD) phenotypes and also increasingly recognized in sporadic and familial amyotrophic …

Structural and Functional Brain Network Connectivity at Different King's Stages in Patients With Amyotrophic Lateral Sclerosis

EG Spinelli, A Ghirelli, S Basaia, E Canu… - Neurology, 2024 - AAN Enterprises
Background and Objectives There is currently no validated disease-stage biomarker for
amyotrophic lateral sclerosis (ALS). The identification of quantitative and reproducible …

[HTML][HTML] Structural and microstructural neuroimaging signature of C9orf72-associated ALS: A multiparametric MRI study

M Wiesenfarth, HJ Huppertz, J Dorst, D Lulé… - NeuroImage: Clinical, 2023 - Elsevier
Background ALS patients with hexanucleotide expansion in C9orf72 are characterized by a
specific clinical phenotype, including more aggressive disease course and cognitive …