SynthesisNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2021
NEK1 mutations and the risk of amyotrophic lateral sclerosis (ALS): a meta-analysis.
Synthesis in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis.BMC medicine · 2022Pooled it
- Review
- Genetic variants among patients with motor neuron disease in Lithuania - a retrospective single-center study.Neurogenetics · 2026Article
- Amyotrophic Lateral Sclerosis (ALS) Genetics and Microbiota: A Comprehensive Review.International journal of molecular sciences · 2026Review
- Article
- A novel frameshift mutation in the NEK1 gene causing amyotrophic lateral sclerosis: A case report and literature review.Neurogenetics · 2025Review
- Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patients.Journal of neurology · 2025Article
- Mutations in NEK1 cause ciliary dysfunction as a novel pathogenic mechanism in amyotrophic lateral sclerosis.Molecular neurodegeneration · 2025Article
- Review
- Emerging roles of primary cilia in the pathogenesis of amyotrophic lateral sclerosis.Frontiers in neuroscience · 2025Review
- Exploring rare coding variants in UK biobank: preliminary associations with motor neuron disease.Frontiers in aging neuroscience · 2025Article
- Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.Journal of neurology · 2024Article
- Unraveling the Genetic Landscape of Neurological Disorders: Insights into Pathogenesis, Techniques for Variant Identification, and Therapeutic Approaches.International journal of molecular sciences · 2024Review
- Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases.Life science alliance · 2023Article
- Review
- Review
- Biomarkers in Neurodegenerative Diseases: Proteomics Spotlight on ALS and Parkinson's Disease.International journal of molecular sciences · 2022Review
- NEK1-mediated retromer trafficking promotes blood-brain barrier integrity by regulating glucose metabolism and RIPK1 activation.Nature communications · 2021Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
Recently, NEK1 (NIMA-related kinase 1) mutations were identified as a cause of amyotrophic lateral sclerosis (ALS), but the relationship between them remains unclear owing to the small sample size and low mutation rate. We made a meta-analysis to make clear the relationship. Eight case-control studies involving 8603 cases and 18,695 controls were enrolled. Results demonstrated that the frequency of NEK1 mutations was 3.1% (95% CI 2.5-3.8%) in ALS patients, including the frequencies of loss of function (LoF) and missense mutations, which were 0.9% (95% CI 0.6-1.1%) and 2.3% (95% CI 1.7-2.8%) in ALS patients, respectively. NEK1 mutations (OR 2.14; 95% CI 1.81-2.52; p < 0.001), including LoF mutations (OR 6.93; 95% CI 4.38-10.96; p < 0.001) and missense mutations (OR 1.65; 95% CI 1.37-1.99; p < 0.001) were associated with a significantly increased risk for ALS. And the risk of NEK1 LoF mutations (OR 6.93) is more than four times of that of NEK1 missense mutations (OR 1.65). Subgroup analysis suggested that the frequency of LoF mutations was higher in European patients (1%) than that in Asian patients (0.7%). In conclusion, NEK1 LoF and missense mutations are low frequencies in ALS patients, but both of them are associated with the increased risk for ALS. Altogether, NEK1 mutations including LoF mutations and missense mutations are more associated with Asian patients than European patients.
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