The DOI matches its Crossref record; 84 of the 84 references it cites were found in a registry or an index.
Amyotrophic lateral sclerosis: a clinical review
Open accessAbstract
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting primarily the motor system, but in which extra‐motor manifestations are increasingly recognized. The loss of upper and lower motor neurons in the motor cortex, the brain stem nuclei and the anterior horn of the spinal cord gives rise to progressive muscle weakness and wasting. ALS often has a focal onset but subsequently spreads to different body regions, where failure of respiratory muscles typically limits survival to 2–5 years after disease onset. In up to 50% of cases, there are extra‐motor manifestations such as changes in behaviour, executive dysfunction and language problems. In 10%–15% of patients, these problems are severe enough to meet the clinical criteria of frontotemporal dementia (FTD). In 10% of ALS patients, the family history suggests an autosomal dominant inheritance pattern. The remaining 90% have no affected family members and are classified as sporadic ALS. The causes of ALS appear to be heterogeneous and are only partially understood. To date, more than 20 genes have been associated with ALS. The most common genetic cause is a hexanucleotide repeat expansion in the C9orf72 gene, responsible for 30%–50% of familial ALS and 7% of sporadic ALS. These expansions are also a frequent cause of frontotemporal dementia, emphasizing the molecular overlap between ALS and FTD. To this day there is no cure or effective treatment for ALS and the cornerstone of treatment remains multidisciplinary care, including nutritional and respiratory support and symptom management. In this review, different aspects of ALS are discussed, including epidemiology, aetiology, pathogenesis, clinical features, differential diagnosis, investigations, treatment and future prospects.
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Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
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El Escorial revisited: revised criteria for the diagnosis of amyotrophic lateral sclerosis
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Frontotemporal lobar degeneration: A consensus on clinical diagnostic criteria
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“In 2011, C9orf72 was discovered, responsible for 30%–50% of fALS and for 7%–10% of sALS [26,27].”
BackgroundA 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
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Sreedharan, J., Blair, I. P., Tripathi, V. B., Hu, X., Vance, C., Rogelj, B., Ackerley, S., Durnall, J. C., Williams, K. L., Buratti, E., et al. (2008) · Science · doi:10.1126/science.1154584 · Cited by 2,630
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6
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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., Kasarskis, E. J., Munsat, T., et al. (2009) · Science · doi:10.1126/science.1166066 · Cited by 2,553
A Controlled Trial of Riluzole in Amyotrophic Lateral Sclerosis
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Cited by
Adamu, A., Li, S., Gao, F., & Xue, G. (2024) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2024.1347987 · Cited by 564
Mead, R. J., Shan, N., Reiser, H. J., Marshall, F., & Shaw, P. J. (2023) · Nature Reviews Drug Discovery · doi:10.1038/s41573-022-00612-2 · Cited by 505
Long Non-Coding RNA (lncRNA) Roles in Cell Biology, Neurodevelopment and Neurological Disorders
Aliperti, V., Skonieczna, J., & Cerase, A. (2021) · Non-Coding RNA · doi:10.3390/ncrna7020036 · Cited by 137
Role of Edaravone as a Treatment Option for Patients with Amyotrophic Lateral Sclerosis
Cho, H., & Shukla, S. (2020) · Pharmaceuticals · doi:10.3390/ph14010029 · Cited by 124
Fazal, R., Boeynaems, S., Swijsen, A., De Decker, M., Fumagalli, L., Moisse, M., Vanneste, J., Guo, W., Boon, R., Vercruysse, T., et al. (2021) · The EMBO Journal · doi:10.15252/embj.2020106177 · Cited by 108
Metadata
- Authors
- Masrori, P., & Van Damme, P.
- Venue
- European Journal of Neurology
- Publisher
- Wiley
- Published
- 2020-07-07
- Volume
- 27
- Issue
- 10
- Pages
- 1918-1929
- ISSN
- 1351-5101 (ISSN-L)
- 1468-1331
- OpenAlex
- W3034958546
- Cited by
- 1,201
- References
- 84
- FWCI
- 39.60
- Type
- journal article
- Language
- en
- Open access
- hybrid
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