The DOI matches its Crossref record; 236 of the 236 references it cites were found in a registry or an index.
Amyotrophic lateral sclerosis: translating genetic discoveries into therapies
Open accessAbstract
Recent advances in sequencing technologies and collaborative efforts have led to substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS). This momentum has, in turn, fostered the development of putative molecular therapies. In this Review, we outline the current genetic knowledge, emphasizing recent discoveries and emerging concepts such as the implication of distinct types of mutation, variability in mutated genes in diverse genetic ancestries and gene-environment interactions. We also propose a high-level model to synthesize the interdependent effects of genetics, environmental and lifestyle factors, and ageing into a unified theory of ALS. Furthermore, we summarize the current status of therapies developed on the basis of genetic knowledge established for ALS over the past 30 years, and we discuss how developing treatments for ALS will advance our understanding of targeting other neurological diseases.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“This is relevant considering that SOD1-ALS accounts for only about 12% of familial and less than 2% of sporadic ALS cases.231”
From Microbiota–gut–brain axis and its therapeutic applications in neurodegenerative diseases (2024) · cites this paper as [231]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Items 201–236 of 236
Searching for Grendel: origin and global spread of the C9ORF72 repeat expansion
Pliner, H. A., Mann, D. M. A., & Traynor, B. J. (2014) · Acta Neuropathologica · doi:10.1007/s00401-014-1250-x · Cited by 42
Self-citationOpen label study to assess the safety of VM202 in subjects with amyotrophic lateral sclerosis
Sufit, R. L., Ajroud‐Driss, S., Casey, P. E., & Kessler, J. A. (2017) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · doi:10.1080/21678421.2016.1259334 · Cited by 42
Hou, L., Jiao, B., Xiao, T., Zhou, L., Zhou, Z., Du, J., Yan, X., Wang, J., Tang, B., & Shen, L. H. (2016) · Scientific Reports · doi:10.1038/srep32478 · Cited by 41
A Mutation that Creates a Pseudoexon in SOD1 Causes Familial ALS
Valdmanis, P. N., Belzil, V., Lee, J., Dion, P. A., St‐Onge, J., Hince, P., Funalot, B., Couratier, P., Clavelou, P., Camu, W., et al. (2009) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2009.00546.x · Cited by 38
The links between diabetes mellitus and amyotrophic lateral sclerosis
Vasta, R., D’Ovidio, F., Logroscino, G., & Chiò, A. (2021) · Neurological Sciences · doi:10.1007/s10072-021-05099-0 · Cited by 38
Self-citationEitan, C., Siany, A., Barkan, E., Olender, T., van Eijk, K. R., Moisse, M., Farhan, S. M. K., Danino, Y. M., Yanowski, E., Marmor-Kollet, H., et al. (2022) · Nature Neuroscience · doi:10.1038/s41593-022-01040-6 · Cited by 38
The economic burden of amyotrophic lateral sclerosis: a systematic review
Achtert, K., & Kerkemeyer, L. (2021) · The European Journal of Health Economics · doi:10.1007/s10198-021-01328-7 · Cited by 37
Casey, J. P., Hirouchi, T., Hisatsune, C., Lynch, B., Murphy, R. P., Dunne, A., Miyamoto, A., Ennis, S., van der Spek, N., O’Hici, B., et al. (2017) · Journal of Neurology · doi:10.1007/s00415-017-8545-5 · Cited by 36
ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree
Tunca, C., Akçimen, F., Coşkun, C., Gündoğdu-Eken, A., Koçoğlu, C., Çevik, B., Bekircan‐Kurt, C. E., Tan, E., & Başak, A. N. (2018) · European Journal of Human Genetics · doi:10.1038/s41431-018-0107-5 · Cited by 36
Self-citationLarge-Volume Intrathecal Administrations: Impact on CSF Pressure and Safety Implications
Belov, V., Appleton, J., Levin, S., Giffenig, P., Durcanova, B., & Papisov, M. (2021) · Frontiers in Neuroscience · doi:10.3389/fnins.2021.604197 · Cited by 36
Mendelian Randomization—A Journey From Obscurity to Center Stage With a Few Potholes Along the Way
Bandrés‐Ciga, S., Noyce, A. J., & Traynor, B. J. (2019) · JAMA Neurology · doi:10.1001/jamaneurol.2019.3419 · Cited by 33
Self-citationIdentification of a pathogenic intronic KIF5A mutation in an ALS-FTD kindred
Sáez-Atiénzar, S., Dalgard, C. L., Ding, J., et al. (2020) · Neurology · doi:10.1212/wnl.0000000000011064 · Cited by 33
A novel SOD1 splice site mutation associated with familial ALS revealed by SOD activity analysis
Birve, A., Neuwirth, C., Weber, M., Marklund, S. L., Nilsson, A.-C., Jonsson, P. A., & Andersen, P. M. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq338 · Cited by 30
Fundraising: The Ice Bucket Challenge delivers
Sohn, E. (2017) · Nature · doi:10.1038/550s113a · Cited by 30
DnaJC7 in Amyotrophic Lateral Sclerosis
Dilliott, A. A., Andary, C. M., Stoltz, M., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23084076 · Cited by 30
Rapid progressive ALS in a patient with a DNAJC7 loss-of-function mutation
Jih, K., Tsai, P., Tsai, Y., et al. (2020) · Neurology Genetics · doi:10.1212/nxg.0000000000000503 · Cited by 26
Epigenetic mechanisms in amyotrophic lateral sclerosis: A short review
Dolinar, A., Ravnik‐Glavač, M., & Glavač, D. (2018) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2018.03.005 · Cited by 25
Andrés‐Benito, P., Gelpí, E., Jové, M., Mota‐Martorell, N., Òbis, È., Portero‐Otín, M., Povedano, M., Pujol, A., Pamplona, R., & Ferrer, I. (2020) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12681 · Cited by 25
Dombroski, B. A., Galasko, D. R., Mata, I. F., Zabetian, C. P., Craig, U.-K., Garruto, R. M., Oyanagi, K., & Schellenberg, G. D. (2013) · JAMA Neurology · doi:10.1001/jamaneurol.2013.1817 · Cited by 24
Association between type 2 diabetes and amyotrophic lateral sclerosis
Zhang, L., Tang, L., Huang, T., & Fan, D. (2022) · Scientific Reports · doi:10.1038/s41598-022-06463-6 · Cited by 24
ALS antisense drug falters in phase III
Mullard, A. (2021) · Nature Reviews Drug Discovery · doi:10.1038/d41573-021-00181-w · Cited by 23
The ALS Ice Bucket Challenge – Can a splash of water reinvigorate a field?
Wicks, P. J. (2014) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · doi:10.3109/21678421.2014.984725 · Cited by 19
Feneberg, E., Turner, M. R., Ansorge, O., et al. (2020) · Neurology · doi:10.1212/wnl.0000000000010587 · Cited by 19
Hickman, R. A., Dewan, R., Cortes, E. P., Traynor, B. J., Marder, K. S., & Vonsattel, J. (2021) · Acta Neuropathologica · doi:10.1007/s00401-021-02385-1 · Cited by 18
Self-citationChen, H., Zhang, J., Wang, T., Zhang, S., Lai, Q., Huang, S., & Zeng, P. (2021) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgab465 · Cited by 17
Wang, M., Liu, Z., Yuan, Y., et al. (2020) · Frontiers in Genetics · doi:10.3389/fgene.2020.00821 · Cited by 16
Aberrant splicing of human Cu/Zn superoxide dismutase (SODI) RNA transcripts
Kawata, A., Kato, S., Shimizu, T., et al. (2000) · Neuroreport · doi:10.1097/00001756-200008210-00009 · Cited by 15
Tohnai, G., Nakamura, R., Atsuta, N., et al. (2021) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2021.12.002 · Cited by 13
He, J., Ma, X., Yu, W., et al. (2021) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2021.04.026 · Cited by 12
Kuźma‐Kozakiewicz, M., Andersen, P. M., Elahi, E., et al. (2020) · Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration · doi:10.1080/21678421.2020.1803359 · Cited by 11
A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review
Zhu, Z., Li, Z., Zhang, C., et al. (2022) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2022.104608 · Cited by 11
New antisense oligonucleotide therapies reach first base in ALS
Lopez, E. R., Borschel, W. F., & Traynor, B. J. (2022) · Nature Medicine · doi:10.1038/s41591-021-01629-7 · Cited by 10
Self-citationBerdyński, M., Kuźma‐Kozakiewicz, M., Ricci, C., et al. (2011) · Amyotrophic Lateral Sclerosis · doi:10.3109/17482968.2011.600316 · Cited by 5
An Epigenetic Spin to ALS and FTD
Ebbert, M., Lank, R. J., & Belzil, V. (2018) · Advances in neurobiology · doi:10.1007/978-3-319-89689-2_1 · Cited by 5
Dewan, R., Jaunmuktane, Z., Garcia‐Segura, M. E., et al. (2022) · Movement Disorders · doi:10.1002/mds.29035 · Cited by 5
Ross, J. P., Dion, P. A., & Rouleau, G. A. (2021) · Wiley eBooks · doi:10.1002/9781119745532.ch2 · Cited by 1
Cited by
Sorted by citations
Microbiota–gut–brain axis and its therapeutic applications in neurodegenerative diseases
Loh, J. S., Mak, W. Q., Tan, L. K. S., Ng, C. X., Chan, H. H., Yeow, S. H., Foo, J. B., Ong, Y. S., How, C. W., & Khaw, K. Y. (2024) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-024-01743-1 · Cited by 1,193
Emerging role of non-coding RNAs in neuroinflammation mediated by microglia and astrocytes
Yang, R., Yang, B., Liu, W., Tan, C., Chen, H., & Wang, X. (2023) · Journal of Neuroinflammation · doi:10.1186/s12974-023-02856-0 · Cited by 91
Metadata
- Authors
- Akçimen, F., Lopez, E. R., Landers, J. E., Nath, A., Chiò, A., Chia, R., & Traynor, B. J.
- Affiliations
- National Institutes of Health (US)
- University of Massachusetts Chan Medical School (US)
- Azienda Ospedaliera Citta' della Salute e della Scienza di Torino (IT)
- Corresponding author
- Akçimen, Fulya
- Traynor, Bryan J.
- ORCID
- Venue
- Nature Reviews Genetics
- Published
- 2023-04-06
- Volume
- 24
- Issue
- 9
- Pages
- 642-658
- ISSN
- 1471-0056 (ISSN-L)
- 1471-0064
- PMC
- PMC10611979
- OpenAlex
- W4362665505
- Cited by
- 234
- References
- 236
- Citations by year
- 2026: 70 · 2025: 79 · 2024: 68 · 2023: 17
- FWCI
- 9.52
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- Locations
- Nature Reviews Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Institutional Research Information System University of Turin (University of Turin) (submittedVersion)
- Funders
- National Institutes of Health (Z99 AG999999, Z01‐AG000949‐02, Z01-AG000949)
- National Institute on Aging (AG000949-02, Z01AG000949, ZIAAG000933)
- National Institute of Neurological Disorders and Stroke (NS03130, Z01-AG000949-02)
- National Center for Advancing Translational Sciences
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
- Keywords
- amyotrophic lateral sclerosis, motor neuron disease, ALS mutations, genetic ancestry, gene-environment interaction, aging, ALS therapeutics, molecular therapy, translational research
- MeSH terms
- Amyotrophic Lateral Sclerosis, Humans, Mutation, Gene-Environment Interaction
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
