The DOI matches its Crossref record; 44 of the 44 references it cites were found in a registry or an index.
ALS and Other Motor Neuron Diseases
Abstract
Purpose of review This review describes the most common motor neuron disease, ALS. It discusses the diagnosis and evaluation of ALS and the current understanding of its pathophysiology, including new genetic underpinnings of the disease. This article also covers other motor neuron diseases, reviews how to distinguish them from ALS, and discusses their pathophysiology. Recent findings In this article, the spectrum of cognitive involvement in ALS, new concepts about protein synthesis pathology in the etiology of ALS, and new genetic associations will be covered. This concept has changed over the past 3 to 4 years with the discovery of new genes and genetic processes that may trigger the disease. As of 2014, two-thirds of familial ALS and 10% of sporadic ALS can be explained by genetics. TAR DNA binding protein 43 kDa (TDP-43), for instance, has been shown to cause frontotemporal dementia as well as some cases of familial ALS, and is associated with frontotemporal dysfunction in ALS. Summary The anterior horn cells control all voluntary movement: motor activity, respiratory, speech, and swallowing functions are dependent upon signals from the anterior horn cells. Diseases that damage the anterior horn cells, therefore, have a profound impact. Symptoms of anterior horn cell loss (weakness, falling, choking) lead patients to seek medical attention. Neurologists are the most likely practitioners to recognize and diagnose damage or loss of anterior horn cells. ALS, the prototypical…
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“ALS onset is most often sporadic, with approximately 10% of cases considered familial.There is a known genetic component for approximately 5%-10% of sporadic cases and 60% of familial cases (12,13).”
From Chronic Traumatic Encephalopathy Within an Amyotrophic Lateral Sclerosis Brain Bank Cohort (2018) · cites this paper as [13]
Citations
Cites
Rosen, D. R., Siddique, T., Patterson, D., Figlewicz, D. A., Sapp, P., Hentati, A., Donaldson, D., Goto, J., O'Regan, J. P., Deng, H.-X., et al. (1993) · Nature · doi:10.1038/362059a0 · Cited by 7,062
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
Neumann, M., Sampathu, D. M., Kwong, L. K., Truax, A. C., Micsenyi, M. C., Chou, T. T., Bruce, J., Schuck, T., Grossman, M., Clark, C. M., et al. (2006) · Science · doi:10.1126/science.1134108 · Cited by 6,576
El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis
Brooks, B. R., Miller, R. G., Swash, M., & Munsat, T. L. (2000) · Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders · doi:10.1080/146608200300079536 · Cited by 5,433
DeJesus-Hernandez, M., Mackenzie, I. R., Boeve, B. F., Boxer, A. L., Baker, M., Rutherford, N. J., Nicholson, A. M., Finch, N. A., Flynn, H., Adamson, J., et al. (2011) · Neuron · doi:10.1016/j.neuron.2011.09.011 · Cited by 4,936
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
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
Vance, C. A., Rogelj, B., Hortobágyi, T., Vos, K. J. D., Nishimura, A. L., Sreedharan, J., Hu, X., Smith, B. N., Ruddy, D., Wright, P. D., et al. (2009) · Science · doi:10.1126/science.1165942 · Cited by 2,625
Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis
Kwiatkowski, T. J., Bosco, D. A., LeClerc, A. L., Tamrazian, E., Vanderburg, C. R., Russ, C., Davis, A., Gilchrist, J. M., Kasarskis, E. J., Munsat, T. L., et al. (2009) · Science · doi:10.1126/science.1166066 · Cited by 2,624
A Controlled Trial of Riluzole in Amyotrophic Lateral Sclerosis
Bensimon, G., Lacomblez, L., & Meininger, V. (1994) · New England Journal of Medicine · doi:10.1056/nejm199403033300901 · Cited by 2,239
Brooks, B. R. (1994) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(94)90191-0 · Cited by 2,171
Dose-ranging study of riluzole in amyotrophic lateral sclerosis
Amyotrophic Lateral Sclerosis/Riluzole Study Group II, Lacomblez, L., Bensimon, G., Meininger, V., Leigh, P. N., & Guillet, P. (1996) · The Lancet · doi:10.1016/s0140-6736(96)91680-3 · Cited by 1,303
Research works printed but not linked: 2
- GeneReviews. www.ncbi.nlm.nih.gov/books/NBK1450/. Accessed June 3 2014.
- Jones HR Burns TM Aminoff MJ Pomeroy SL eds. The Netter collection of medical illustrations nervous system: spinal cord and peripheral nervous system. 2nd ed. Philadelphia PA: Elsevier 2013.
Cited by
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Lipid droplets in neurodegenerative disorders
Farmer, B. C., Walsh, A. E., Kluemper, J. C., & Johnson, L. A. (2020) · Frontiers in Neuroscience · doi:10.3389/fnins.2020.00742 · Cited by 270
Unhealthy gut, unhealthy brain: The role of the intestinal microbiota in neurodegenerative diseases
Spielman, L. J., Gibson, D. L., & Klegeris, A. (2018) · Neurochemistry International · doi:10.1016/j.neuint.2018.08.005 · Cited by 266
Barrell, K., & Smith, A. G. (2018) · Medical Clinics of North America · doi:10.1016/j.mcna.2018.10.006 · Cited by 143
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis
McCann, E. P., Henden, L., Fifita, J. A., Zhang, K. Y., Grima, N., Bauer, D. C., Fat, S. C. M., Twine, N. A., Pamphlett, R., Kiernan, M. C., et al. (2020) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2020-106866 · Cited by 91
Unraveling the complexity of human brain: Structure, function in healthy and disease states
Sultana, O. F., Bandaru, M., Islam, M. A., & Reddy, P. H. (2024) · Ageing Research Reviews · doi:10.1016/j.arr.2024.102414 · Cited by 92
Metadata
- Authors
- Tiryaki, E., & Horak, H. A.
- Affiliations
- University of Minnesota (US)
- ORCID
- Tiryaki, Ezgi
- Venue
- Continuum
- Published
- 2014-10
- Volume
- 20
- Issue
- 5
- Pages
- 1185-1207
- ISSN
- 1080-2371 (ISSN-L)
- 1538-6899
- OpenAlex
- W2103490084
- Cited by
- 143
- References
- 44
- Citations by year
- 2026: 8 · 2025: 13 · 2024: 10 · 2023: 24 · 2022: 33 · 2021: 14 · 2020: 13 · 2019: 8 · 2018: 9 · 2017: 2 · 2016: 3 · 2015: 3
- FWCI
- 1.74
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- CONTINUUM Lifelong Learning in Neurology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Health Sciences › Medicine › Genetics (clinical) › Neurogenetic and Muscular Disorders Research
- Keywords
- amyotrophic lateral sclerosis, motor neuron disease, TDP-43, frontotemporal dementia, familial ALS, sporadic ALS, anterior horn cells, differential diagnosis, pathophysiology, end-of-life care
- MeSH terms
- Amyotrophic Lateral Sclerosis, Humans, Motor Neuron Disease
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