The changing scene of amyotrophic lateral sclerosis

Robberecht, Wim; Philips, Thomas

doi:10.1038/nrn3430

Cited by 957Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatmentsHereditary Neurological Disorders

The changing scene of amyotrophic lateral sclerosis

Robberecht, Wim, Philips, Thomas·2013·Nature Reviews Neuroscience

DOI 10.1038/nrn3430

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Abstract

Several recent breakthroughs have provided notable insights into the pathogenesis of amyotrophic lateral sclerosis (ALS), with some even shifting our thinking about this neurodegenerative disease and raising the question as to whether this disorder is a proteinopathy, a ribonucleopathy or both. In addition, these breakthroughs have revealed mechanistic links between ALS and frontotemporal dementia, as well as between ALS and other neurodegenerative diseases, such as the cerebellar atrophies, myotonic dystrophy and inclusion body myositis. Here, we summarize the new findings in ALS research, discuss what they have taught us about this disease and examine issues that are still outstanding.

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Approximately 20% of familial ALS and 5% of sporadic ALS cases are caused by mutations in the SOD1 gene.
“Approximately 20% of fALS and 5% of sALS cases are caused by mutations in the SOD1 gene (Majoor-Krakauer et al., 2003; Robberecht and Philips, 2013).”
From Downregulation of MicroRNA-193b-3p Promotes Autophagy and Cell Survival by Targeting TSC1/mTOR Signaling in NSC-34 Cells (2017) · cites this paper as Robberecht and Philips, 2013

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Downregulation of MicroRNA-193b-3p Promotes Autophagy and Cell Survival by Targeting TSC1/mTOR Signaling in NSC-34 Cells
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“Approximately 20% of fALS and 5% of sALS cases are caused by mutations in the SOD1 gene (Majoor-Krakauer et al., 2003; Robberecht and Philips, 2013).”
Background
The regulation of the small heat shock protein B8 in misfolding protein diseases causing motoneuronal and muscle cell death
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 · see citing works

Authors: Robberecht, W., & Philips, T.
Affiliations: VIB-KU Leuven Center for Brain & Disease Research (BE)
Johns Hopkins University (US)
Corresponding author: Robberecht, Wim
ORCID: Philips, Thomas
Venue: Nature Reviews Neuroscience
Publisher: Springer Science and Business Media LLC
Published: 2013-03-06
Volume: 14
Issue: 4
Pages: 248-264
ISSN: 1471-003X (ISSN-L)
1471-0048
DOI: 10.1038/nrn3430
OpenAlex: W2067015275
Cited by: 957
References: 24
Citations by year: 2026: 17 · 2025: 22 · 2024: 42 · 2023: 44 · 2022: 61 · 2021: 78 · 2020: 75 · 2019: 70 · 2018: 85 · 2017: 100 · 2016: 110 · 2015: 107 · 2014: 102 · 2013: 40 · 2012: 2
FWCI: 15.22
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature reviews. Neuroscience (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords: amyotrophic lateral sclerosis, ALS pathogenesis, phenotypic heterogeneity, proteinopathies, frontotemporal dementia, cerebellar atrophy, myotonic dystrophy, inclusion body myositis
MeSH terms: Amyotrophic Lateral Sclerosis, Animals, Humans, Mutation, RNA-Binding Proteins, Frontotemporal Dementia

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The changing scene of amyotrophic lateral sclerosis

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