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 exhibit incomplete penetrance or delayed onset.
“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]
The ALS epidemiology section (page unavailable) reports an age difference in ALS onset among C9orf72 expansion carriers, supporting variability in onset. The Conclusion (page unavailable) identifies penetrance as an unresolved question, but does not state that monogenic ALS mutations have incomplete penetrance. (LLM, conf=0.72)
Experimental — accuracy not yet measuredExposure to certain environmental factors might modify the risk that monogenic ALS mutations confer.
“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]
The ALS epidemiology section discusses age, sex, and genetics as influences on ALS risk, while the section on ALS genes discusses mutations and clinical phenotype. Neither states that environmental exposures modify the risk conferred by ALS mutations; searches for environmental factors and genetic penetrance found no passage addressing that interaction. Page numbers were not available in our copy. (LLM, conf=0.73)
Experimental — accuracy not yet measured
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Creatine Kinase MB Isoenzyme Is a Complementary Biomarker in Amyotrophic Lateral Sclerosis
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Cathepsins in Neurological Diseases
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Protein biomarkers for the diagnosis and prognosis of Amyotrophic Lateral Sclerosis
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Self-citationApplication of advanced biosensors in nervous system diseases
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- 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 › Neurology › Amyotrophic Lateral Sclerosis Research
- Health Sciences › Medicine › Genetics › Neurogenetic and Muscular Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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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