Amyotrophic lateral sclerosis

LC Wijesekera, P Nigel Leigh - Orphanet journal of rare diseases, 2009 - Springer
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterised by
progressive muscular paralysis reflecting degeneration of motor neurones in the primary …

Biomarkers in motor neuron disease: a state of the art review

NS Verber, SR Shepheard, M Sassani… - Frontiers in …, 2019 - frontiersin.org
Motor neuron disease can be viewed as an umbrella term describing a heterogeneous
group of conditions, all of which are relentlessly progressive and ultimately fatal. The …

Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis

S Vucic, GA Nicholson, MC Kiernan - Brain, 2008 - academic.oup.com
Familial amyotrophic lateral sclerosis (FALS) is an inherited neurodegenerative disorder of
the motor neurons. While 10–15% of cases are caused by mutations in the copper/zinc …

Stathmin-2 loss leads to neurofilament-dependent axonal collapse driving motor and sensory denervation

J Lopez-Erauskin, M Bravo-Hernandez, M Presa… - Nature …, 2024 - nature.com
The mRNA transcript of the human STMN2 gene, encoding for stathmin-2 protein (also
called SCG10), is profoundly impacted by TAR DNA-binding protein 43 (TDP-43) loss of …

Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis

Y Yuan, Z Liu, X Hou, W Li, J Ni, L Huang, Y Hu, P Liu… - Neurology, 2020 - AAN Enterprises
Objective To determine whether the GGC repeats in the NOTCH2NLC gene contribute to
amyotrophic lateral sclerosis (ALS). Methods In this study, 545 patients with ALS and 1,305 …

Novel threshold tracking techniques suggest that cortical hyperexcitability is an early feature of motor neuron disease

S Vucic, MC Kiernan - Brain, 2006 - academic.oup.com
The dying forward hypothesis of motor neuron disease (MND) suggests that
corticomotoneurons induce excitotoxic anterior horn cell death, with involvement of the …

Cortical hyperexcitability precedes lower motor neuron dysfunction in ALS

P Menon, MC Kiernan, S Vucic - Clinical neurophysiology, 2015 - Elsevier
Objective To determine whether cortical hyperexcitability preceded the development of
lower motor neuron (LMN) dysfunction in sporadic amyotrophic lateral sclerosis (ALS) …

Quantifying disease progression in amyotrophic lateral sclerosis

NG Simon, MR Turner, S Vucic… - Annals of …, 2014 - Wiley Online Library
Amyotrophic lateral sclerosis (ALS) exhibits characteristic variability of onset and rate of
disease progression, with inherent clinical heterogeneity making disease quantitation …

Amyotrophic lateral sclerosis: Current perspectives from basic research to the clinic

R Mancuso, X Navarro - Progress in Neurobiology, 2015 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by
progressive degeneration of upper and lower motoneurons, leading to muscle weakness …

Cortical hyperexcitability evolves with disease progression in ALS

P Menon, M Higashihara… - Annals of clinical …, 2020 - Wiley Online Library
Objective Cortical hyperexcitability has been established as an early feature of amyotrophic
lateral sclerosis (ALS). The evolution of cortical hyperexcitability with ALS progression …