ArticleJournal of neurology2021
Targeted sequencing panels in Italian ALS patients support different etiologies in the ALS/FTD continuum.
Article in Journal of neurology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Unveiling the SOD1-mediated ALS phenotype: insights from a comprehensive meta-analysis.Journal of neurology · 2024Pooled it
- Article
- Update and recommendations on genetic testing for amyotrophic lateral sclerosis in clinical practice: a Brazilian expert view.Frontiers in neurology · 2026Review
- Classical HLA class II associations with ALS in Kuwait reveal a DR7-DQ2.2 risk haplotype.Frontiers in immunology · 2026Article
- Exploring NEK1 genetic variability in Italian amyotrophic lateral sclerosis patients.Journal of neurology · 2025Article
- Update on recent advances in amyotrophic lateral sclerosis.Journal of neurology · 2024Review
- Estimated Familial Amyotrophic Lateral Sclerosis Proportion: A Literature Review and Meta-analysis.Neurology. Genetics · 2023Article
- Amyloid-Beta Co-Pathology Is a Major Determinant of the Elevated Plasma GFAP Values in Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2023Article
- Advantages of routine next-generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic.European journal of neurology · 2023Article
- Iranian clinical practice guideline for amyotrophic lateral sclerosis.Frontiers in neurology · 2023Review
- Article
- Plasma and CSF Neurofilament Light Chain in Amyotrophic Lateral Sclerosis: A Cross-Sectional and Longitudinal Study.Frontiers in aging neuroscience · 2021Article
Corrections and comments
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Authors and funding
17 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background5-10% of amyotrophic lateral sclerosis (ALS) patients presented a positive family history (fALS). More than 30 genes have been identified in association with ALS/frontotemporal dementia (FTD) spectrum, with four major genes accounting for 60-70% of fALS. In this paper, we aimed to assess the contribution to the pathogenesis of major and rare ALS/FTD genes in ALS patients.
methodsWe analyzed ALS and ALS/FTD associated genes by direct sequencing or next-generation sequencing multigene panels in ALS patients.
resultsGenetic abnormalities in ALS major genes included repeated expansions of hexanucleotide in C9orf72 gene (7.3%), mutations in SOD1 (4.9%), FUS (2.1%), and TARDBP (2.4%), whereas variants in rare ALS/FTD genes affected 15.5% of subjects overall, most frequently involving SQSTM1 (3.4%), and CHMP2B (1.9%). We found clustering of variants in ALS major genes in patients with a family history for "pure" ALS, while ALS/FTD related genes mainly occurred in patients with a family history for other neurodegenerative diseases (dementia and/or parkinsonism).
conclusionsOur data support the presence of two different genetic components underlying ALS pathogenesis, related to the presence of a family history for ALS or other neurodegenerative diseases. Thus, family history may help in optimizing the genetic screening protocol to be applied.
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