Amyotrophic lateral sclerosis

EL Feldman, SA Goutman, S Petri, L Mazzini… - The Lancet, 2022 - thelancet.com
Amyotrophic lateral sclerosis is a fatal CNS neurodegenerative disease. Despite intensive
research, current management of amyotrophic lateral sclerosis remains suboptimal from …

An update on genetic frontotemporal dementia

CV Greaves, JD Rohrer - Journal of neurology, 2019 - Springer
Frontotemporal dementia (FTD) is a highly heritable group of neurodegenerative disorders,
with around 30% of patients having a strong family history. The majority of that heritability is …

Genetics of amyotrophic lateral sclerosis: A review

S Mathis, C Goizet, A Soulages, JM Vallat… - Journal of the …, 2019 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of the motor pathways,
invariably leading to death within a few years of onset. Most cases of ALS are sporadic, but …

Pathological neural networks and artificial neural networks in ALS: diagnostic classification based on pathognomonic neuroimaging features

P Bede, A Murad, O Hardiman - Journal of neurology, 2021 - Springer
The description of group-level, genotype-and phenotype-associated imaging traits is
academically important, but the practical demands of clinical neurology centre on the …

[HTML][HTML] The C9ORF72 repeat expansion alters neurodevelopment

E Hendricks, AM Quihuis, ST Hung, J Chang… - Cell reports, 2023 - cell.com
Genetic mutations that cause adult-onset neurodegenerative diseases are often expressed
during embryonic stages, but it is unclear whether they alter neurodevelopment and how this …

A data-driven disease progression model of fluid biomarkers in genetic frontotemporal dementia

EL Van Der Ende, EE Bron, JM Poos, LC Jiskoot… - Brain, 2022 - academic.oup.com
Several CSF and blood biomarkers for genetic frontotemporal dementia have been
proposed, including those reflecting neuroaxonal loss (neurofilament light chain and …

Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

P Frick, C Sellier, IRA Mackenzie, CY Cheng… - Acta neuropathologica …, 2018 - Springer
Hexanucleotide repeat expansion in C9orf72 is the most common genetic cause of
frontotemporal dementia and amyotrophic lateral sclerosis, but the pathogenic mechanism …

Biomarkers in amyotrophic lateral sclerosis: current status and future prospects

R McMackin, P Bede, C Ingre, A Malaspina… - Nature Reviews …, 2023 - nature.com
Disease heterogeneity in amyotrophic lateral sclerosis poses a substantial challenge in drug
development. Categorization based on clinical features alone can help us predict the …

Clinical and radiological markers of extra-motor deficits in amyotrophic lateral sclerosis

F Christidi, E Karavasilis, M Rentzos, N Kelekis… - Frontiers in …, 2018 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is now universally recognized as a complex multisystem
disorder with considerable extra-motor involvement. The neuropsychological manifestations …

Presymptomatic spinal cord pathology in c9orf72 mutation carriers: A longitudinal neuroimaging study

G Querin, P Bede, MM El Mendili, M Li… - Annals of …, 2019 - Wiley Online Library
Objective C9orf72 hexanucleotide repeats expansions account for almost half of familial
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) cases. Recent …