Cited by 106Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatmentsHereditary Neurological Disorders

The DOI matches its Crossref record; 151 of the 154 references it cites were found in a registry or an index.

Risk Factors and Emerging Therapies in Amyotrophic Lateral Sclerosis

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Nowicka, Natalia, Juranek, Jakub, Juranek, Judyta K., Wojtkiewicz, Joanna·2019·International Journal of Molecular Sciences

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal progressive neurodegenerative disease characterized by a permanent degeneration of both upper and lower motor neurons. Many different genes and pathophysiological processes contribute to this disease, however its exact cause remains unclear. Therefore, it is necessary to understand this heterogeneity to find effective treatments. In this review, we focus on selected environmental and genetic risk factors predisposing to ALS and highlight emerging treatments in ALS therapy. Of numerous defective genes associated with ALS, we focus on four principal genes that have been identified as definite causes of ALS: the SOD1 gene, C9orf72, TDP-43, as well as the recently identified TBK1. We also provide up-to-date information on selected environmental factors that have historically been considered as key players in ALS development and pathogenesis. In parallel to our survey of known risk factors, we also discuss emerging ALS stem cell therapies and experimental medicines currently undergoing phase II and III clinical trials.

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Crossref · 10.3390/ijms20112616

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Figure 1 Schematic depiction of risk factors in ALS. ALS risk factors can be divided into two main categories: genetic and environmental. Well-documented genetic factors include mutations in superoxide dismutase 1 (SOD1 gene), mutation in TAR DNA binding protein (TARDBP), a hexanucleotide repeat expansion (GGGGCC) in the first intron of the C9orf72 gene, and mutations in TANK-binding kinase 1 (TBK1). The researched environmental risk factors are BMI and nutritional state and exposure to heavy metals, pesticides, and electromagnetic fields.
Figure 1 Schematic depiction of risk factors in ALS. ALS risk factors can be divided into two main categories: genetic and environmental. Well-documented genetic factors include mutations in superoxide dismutase 1 (SOD1 gene), mutation in TAR DNA binding protein (TARDBP), a hexanucleotide repeat expansion (GGGGCC) in the first intron of the C9orf72 gene, and mutations in TANK-binding kinase 1 (TBK1). The researched environmental risk factors are BMI and nutritional state and exposure to heavy metals, pesticides, and electromagnetic fields.CC BY · PubMed Central
Figure 2 Overview of main approaches to ALS treatment. The therapies studied can be divided into seven general groups, mainly based on pathophysiological models of the disease. The groups include anti-apoptotic, anti-inflammatory, anti-excitotoxicitory, anti-oxidant, anti-aggregation, neurotrophic growth factor, and neuroprotective approaches, which all can be classified as pharmacological interventions. Additionally, a separate non-pharmacological group of stem cell therapies is discussed.
Figure 2 Overview of main approaches to ALS treatment. The therapies studied can be divided into seven general groups, mainly based on pathophysiological models of the disease. The groups include anti-apoptotic, anti-inflammatory, anti-excitotoxicitory, anti-oxidant, anti-aggregation, neurotrophic growth factor, and neuroprotective approaches, which all can be classified as pharmacological interventions. Additionally, a separate non-pharmacological group of stem cell therapies is discussed.CC BY · PubMed Central

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Research works printed but not linked: 1

  1. Parry, 2016, Ursodeoxycholic Acid May Slow the Progression of Amyotrophic Lateral Sclerosis, Ann. Neurodegener. Dis., 1, 1013

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Metadata

Authors
Nowicka, N., Juranek, J., Juranek, J. K., & Wojtkiewicz, J.
Affiliations
  • University of Warmia and Mazury in Olsztyn (PL)
  • Institute of Psychology (PL)
Corresponding author
  • Nowicka, Natalia
  • Wojtkiewicz, Joanna
Venue
International Journal of Molecular Sciences
Publisher
MDPI AG
Published
2019-05-28
Volume
20
Issue
11
Pages
2616
ISSN
1422-0067 (ISSN-L)
OpenAlex
W2947955929
Cited by
106
References
154
Citations by year
2026: 11 · 2025: 10 · 2024: 11 · 2023: 22 · 2022: 17 · 2021: 12 · 2020: 20 · 2019: 3
FWCI
1.74
Type
journal article
Language
en
Open access
Locations
  • International Journal of Molecular Sciences (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
Funders
Narodowym Centrum Nauki (OPUS/2017/25/B/NZ4/00435)
Topics
  • Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords
amyotrophic lateral sclerosis, risk factors, genetic risk factors, environmental risk factors, SOD1, C9orf72, TDP-43, TBK1, motor neuron degeneration, stem cell therapy, experimental treatment, clinical trials
MeSH terms
Superoxide Dismutase-1, C9orf72 Protein, Amyotrophic Lateral Sclerosis, Animals, DNA-Binding Proteins, Humans, Genetic Therapy, Genetic Predisposition to Disease, Molecular Targeted Therapy

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