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Recent advances in the diagnosis and prognosis of amyotrophic lateral sclerosis
Open accessAbstract
The diagnosis of amyotrophic lateral sclerosis can be challenging due to its heterogeneity in clinical presentation and overlap with other neurological disorders. Diagnosis early in the disease course can improve outcomes as timely interventions can slow disease progression. An evolving awareness of disease genotypes and phenotypes and new diagnostic criteria, such as the recent Gold Coast criteria, could expedite diagnosis. Improved prognosis, such as that achieved with the survival model from the European Network for the Cure of ALS, could inform the patient and their family about disease course and improve end-of-life planning. Novel staging and scoring systems can help monitor disease progression and might potentially serve as clinical trial outcomes. Lastly, new tools, such as fluid biomarkers, imaging modalities, and neuromuscular electrophysiological measurements, might increase diagnostic and prognostic accuracy.
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“monogenic ALS mutations may still exhibit incomplete penetrance or delayed onset [8]”
From Lifestyle and medical conditions in relation to ALS risk and progression—an introduction to the Swedish ALSrisc Study (2024) · cites this paper as [8]
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“as exposure to certain environmental factors might modify the risk the mutations confer [8].”
From Lifestyle and medical conditions in relation to ALS risk and progression—an introduction to the Swedish ALSrisc Study (2024) · cites this paper as [8]
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El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis
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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
Renton, A. E., Majounie, E., Waite, A., Simón-Sánchez, J., Rollinson, S., Gibbs, J. R., Schymick, J. C., Laaksovirta, H., van Swieten, J. C., Myllykangas, L., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.010 · Cited by 4,409
Self-citationCedarbaum, J. M., Stambler, N., Malta, E., Fuller, C., Hilt, D., Thurmond, B., & Nakanishi, A. (1999) · Journal of the Neurological Sciences · doi:10.1016/s0022-510x(99)00210-5 · Cited by 3,307
Strong, M. J., Abrahams, S., Goldstein, L. H., Woolley, S., Mclaughlin, P., Snowden, J., Mioshi, E., Roberts-South, A., Benatar, M., HortobáGyi, T., et al. (2017) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · doi:10.1080/21678421.2016.1267768 · Cited by 909
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Self-citationThe phenotypic variability of amyotrophic lateral sclerosis
Swinnen, B., & Robberecht, W. (2014) · Nature Reviews Neurology · doi:10.1038/nrneurol.2014.184 · Cited by 647
Phenotypic heterogeneity of amyotrophic lateral sclerosis: a population based study
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Self-citationA proposal for new diagnostic criteria for ALS
Shefner, J. M., Al‐Chalabi, A., Baker, M. R., Cui, L., de Carvalho, M. A., Eisen, A., Großkreutz, J., Hardiman, O. M., Henderson, R. D., Matamala, J. M., et al. (2020) · Clinical Neurophysiology · doi:10.1016/j.clinph.2020.04.005 · Cited by 622
Self-citationNovel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications
Chia, R., Chiò, A., & Traynor, B. J. (2017) · The Lancet Neurology · doi:10.1016/s1474-4422(17)30401-5 · Cited by 592
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Research works printed but not linked: 1
- Pinto-Grau, 2020, Patterns of language impairment in early ALS, Neurol Clin Pract, 11, e634
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Feldman, E. L., Goutman, S. A., Petri, S., Mazzini, L., Savelieff, M. G., Shaw, P. J., & Sobue, G. (2022) · The Lancet · doi:10.1016/s0140-6736(22)01272-7 · Cited by 1,267
Self-citationNeurofilaments as biomarkers in neurological disorders — towards clinical application
Khalil, M., Teunissen, C. E., Lehmann, S., Otto, M., Piehl, F., Ziemssen, T., Bittner, S., Sormani, M. P., Gattringer, T., Abu‐Rumeileh, S., et al. (2024) · Nature Reviews Neurology · doi:10.1038/s41582-024-00955-x · Cited by 503
Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis
Goutman, S. A., Hardiman, O. M., Al‐Chalabi, A., Chiò, A., Savelieff, M. G., Kiernan, M. C., & Feldman, E. L. (2022) · The Lancet Neurology · doi:10.1016/s1474-4422(21)00414-2 · Cited by 432
Self-citationInnate immune activation in neurodegenerative diseases
Castro‐Gomez, S., & Heneka, M. T. (2024) · Immunity · doi:10.1016/j.immuni.2024.03.010 · Cited by 176
Skeletal muscle in amyotrophic lateral sclerosis
Shefner, J. M., Musarò, A., Ngo, S. T., Lunetta, C., Steyn, F. J., Robitaille, R., de Carvalho, M. A., Rutkove, S. B., Ludolph, A. C., & Dupuis, L. (2023) · Brain · doi:10.1093/brain/awad202 · Cited by 110
Metadata
- Authors
- Goutman, S. A., Hardiman, O., Al-Chalabi, A., Chió, A., Savelieff, M. G., Kiernan, M. C., & Feldman, E. L.
- Affiliations
- University of Michigan (US)
- Trinity College Dublin (IE)
- University of Turin (IT)
- The University of Sydney (AU)
- Corresponding author
- Feldman, Eva L
- Venue
- The Lancet Neurology
- Publisher
- Elsevier BV
- Published
- 2022-05
- Volume
- 21
- Issue
- 5
- Pages
- 480-493
- ISSN
- 1474-4422 (ISSN-L)
- PMC
- PMC9513753
- OpenAlex
- W4220676470
- Cited by
- 493
- References
- 107
- Citations by year
- 2026: 115 · 2025: 125 · 2024: 143 · 2023: 82 · 2022: 28
- FWCI
- 13.65
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- Locations
- The Lancet Neurology (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion, other-oa)
- Funders
- Seventh Framework Programme (259867)
- National Institute for Health Research Imperial Biomedical Research Centre
- Medical Research Council (MR/R024804/1, MR/L501529/1)
- Science Foundation Ireland (16/RC/3948, 13/RC2015)
- National Institute for Health Research (NIHR202421)
- National Institute of Neurological Disorders and Stroke (R01NS120926, R01NS127188)
- South London and Maudsley NHS Foundation Trust
- Ministero della Salute
- ALS Association
- National Institute of Environmental Health Sciences (R01ES030049, K23ES027221)
- Health Research Board
- National Health and Medical Research Council (APP1132524, APP1153439, APP1156093)
- University of Michigan
- Sinai Medical Staff Foundation
- Thierry Latran Foundation
- Horizon 2020
- Economic and Social Research Council (ES/L008238/1)
- Ministero dell’Istruzione, dell’Università e della Ricerca (2017SNW5MB)
- EU Joint Programme – Neurodegenerative Disease Research
- Motor Neurone Disease Association
- King's College London
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Genetics (clinical) › Neurogenetic and Muscular Disorders Research
- Health Sciences › Medicine › Internal Medicine › Amyloidosis: Diagnosis, Treatment, Outcomes
- Keywords
- amyotrophic lateral sclerosis, diagnosis, prognosis, survival models, disease staging, disease progression, fluid biomarkers, neuroimaging, phenotypes, end-of-life planning
- MeSH terms
- Amyotrophic Lateral Sclerosis, Electromyography, Humans, Prognosis, Biomarkers, Disease Progression
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