ArticleJournal of neurology, neurosurgery, and psychiatry2019
Younger age of onset in familial amyotrophic lateral sclerosis is a result of pathogenic gene variants, rather than ascertainment bias.
Article in Journal of neurology, neurosurgery, and psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 2 of them syntheses that pooled it.
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Who cites it
28 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Human tissue lead (Pb) levels and amyotrophic lateral sclerosis: a systematic review and meta-analysis of case-control studies.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Pooled it
- C9orf72 intermediate expansions of 24-30 repeats are associated with ALS.Acta neuropathologica communications · 2019Pooled it
- Integrative ALS therapy: gene targeted therapy by base editing and potential exercise rehabilitation as synergistic strategies for functional recovery.Physical activity and nutrition · 2026Article
- Disruption of the angiopoietin-like system connects lipid homeostasis and hypothalamic dysfunction in ALS.BMC medicine · 2026Article
- Oligogenic structure of amyotrophic lateral sclerosis has genetic testing, counselling and therapeutic implications.Journal of neurology, neurosurgery, and psychiatry · 2025Article
- A population based study to analyse amyotrophic lateral sclerosis as a multi-step process.Scientific reports · 2025Article
- Occupational lead exposure and amyotrophic lateral sclerosis survival in the Danish National Patient Registry.Amyotrophic lateral sclerosis & frontotemporal degeneration · 2025Article
- Discovery of Novel Inhibitors against ALS-Related SOD1(A4V) Aggregation through the Screening of a Chemical Library Using Differential Scanning Fluorimetry (DSF).Pharmaceuticals (Basel, Switzerland) · 2024Article
- Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication.Journal of neurology · 2024Article
- Hereditary spastic paraplegia: Novel insights into the pathogenesis and management.SAGE open medicine · 2024Review
- Role of Senataxin in Amyotrophic Lateral Sclerosis.Journal of molecular neuroscience : MN · 2023Review
- An Updated Evolutionary and Structural Study of TBK1 Reveals Highly Conserved Motifs as Potential Pharmacological Targets in Neurodegenerative Diseases.Advances in experimental medicine and biology · 2023Article
- Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.Brain communications · 2023Article
- The impact of age on genetic testing decisions in amyotrophic lateral sclerosis.Brain : a journal of neurology · 2022Article
- The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.Nature communications · 2022Observational
- Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.Journal of medical genetics · 2022Article
- Repurposing of Trimetazidine for amyotrophic lateral sclerosis: A study in SOD1British journal of pharmacology · 2022Article
- Structural variation analysis of 6,500 whole genome sequences in amyotrophic lateral sclerosis.NPJ genomic medicine · 2022Article
- Age of Onset and Length of Survival of Queensland Patients with Amyotrophic Lateral Sclerosis: Details of Subjects with Early Onset and Subjects with Long Survival.Neuro-degenerative diseases · 2022Article
- Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients.Frontiers in neurology · 2022Article
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Abstract
objectiveAmyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disease of motor neurons with a median survival of 2 years. Familial ALS has a younger age of onset than apparently sporadic ALS. We sought to determine whether this younger age of onset is a result of ascertainment bias or has a genetic basis.
methodsSamples from people with ALS were sequenced for 13 ALS genes. To determine the effect of genetic variation, age of onset was compared in people with sporadic ALS carrying a pathogenic gene variant and those who do not; to determine the effect of family history, we compared those with genetic sporadic ALS and familial ALS.
resultsThere were 941 people with a diagnosis of ALS, 100 with familial ALS. Of 841 with apparently sporadic ALS, 95 carried a pathogenic gene variant. The mean age of onset in familial ALS was 5.3 years younger than for apparently sporadic ALS (p=6.0×10
conclusionsPeople with familial ALS have an age of onset about 5 years younger than those with apparently sporadic ALS, and we have shown that this is a result of Mendelian gene variants lowering the age of onset, rather than ascertainment bias.
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