The DOI matches its Crossref record; 103 of the 103 references it cites were found in a registry or an index.
Amyotrophic Lateral Sclerosis: An Update for 2018
Abstract
&NA; Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease affecting motor neurons and other neuronal cells, leading to severe disability and eventually death from ventilatory failure. It has a prevalence of 5 in 100,000, with an incidence of 1.7 per 100,000, reflecting short average survival. The pathogenesis is incompletely understood, but defects of RNA processing and protein clearance may be fundamental. Repeat expansions in the chromosome 9 open reading frame 72 gene (C9orf72) are the most common known genetic cause of ALS and are seen in approximately 40% of patients with a family history and approximately 10% of those without. No environmental risk factors are proved to be causative, but many have been proposed, including military service. The diagnosis of ALS rests on a history of painless progressive weakness coupled with examination findings of upper and lower motor dysfunction. No diagnostic test is yet available, but electromyography and genetic tests can support the diagnosis. Care for patients is best provided by a multidisciplinary team, and most interventions are directed at managing symptoms. Two medications with modest benefits have Food and Drug Administration approval for the treatment of ALS: riluzole, a glutamate receptor antagonist, and, new in 2017, edaravone, a free radical scavenger. Many other encouraging treatment strategies are being explored in clinical trials for ALS; herein we review stem cell and antisense oligonucleotide gene therapies.
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Cites
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
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A perivascular origin for mesenchymal stem cells in multiple human organs
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TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
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A Controlled Trial of Riluzole in Amyotrophic Lateral Sclerosis
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Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis
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TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis
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Dose-ranging study of riluzole in amyotrophic lateral sclerosis
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Cited by
Trial of Sodium Phenylbutyrate–Taurursodiol for Amyotrophic Lateral Sclerosis
Paganoni, S., Macklin, E. A., Hendrix, S., Berry, J. D., Elliott, M. A., Maiser, S., Karam, C., Caress, J. B., Owegi, M. A., Quick, A., et al. (2020) · New England Journal of Medicine · doi:10.1056/nejmoa1916945 · Cited by 536
Mesenchymal Stromal Cell Therapies for Neurodegenerative Diseases
Staff, N. P., Jones, D. T., & Singer, W. (2019) · Mayo Clinic Proceedings · doi:10.1016/j.mayocp.2019.01.001 · Cited by 150
Self-citationRisk factors and emerging therapies in amyotrophic lateral sclerosis
Nowicka, N., Juranek, J., Juranek, J. K., & Wojtkiewicz, J. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20112616 · Cited by 106
Current Concepts on Genetic Aspects of Mitochondrial Dysfunction in Amyotrophic Lateral Sclerosis
Jankovic, M., Novakovic, I., Gamil Anwar Dawod, P., Gamil Anwar Dawod, A., Drinic, A., Abdel Motaleb, F. I., Ducic, S., & Nikolic, D. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22189832 · Cited by 36
Cristofani, R., Rusmini, P., Galbiati, M., Cicardi, M. E., Ferrari, V., Tedesco, B., Casarotto, E., Chierichetti, M., Messi, E., Piccolella, M., et al. (2019) · Frontiers in Neuroscience · doi:10.3389/fnins.2019.00796 · Cited by 35
Metadata
- Authors
- Oskarsson, B., Gendron, T. F., & Staff, N. P.
- Venue
- Mayo Clinic Proceedings
- Publisher
- Elsevier BV
- Published
- 2018-11
- Volume
- 93
- Issue
- 11
- Pages
- 1617-1628
- ISSN
- 0025-6196 (ISSN-L)
- OpenAlex
- W2810654871
- Cited by
- 316
- References
- 103
- FWCI
- 19.71
- Type
- journal article
- Language
- en
- Open access
- closed
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