ArticleNeurobiology of aging2013
UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study.
Article in Neurobiology of aging, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04875949 (Anti-Cholinergic Receptors Antibodies and Dysautonomia Symptoms Relationships in Pure Autonomic Failure, Amyotrophic Lateral Sclerosis, Postural Orthostatic Tachycardia Syndrome), which is not on this map. Cited by 43 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Anti-Cholinergic Receptors Antibodies and Dysautonomia Symptoms Relationships in Pure Autonomic Failure, Amyotrophic Lateral Sclerosis, Postural Orthostatic Tachycardia Syndrome: a Pathophysiology Based Therapeutic New Strategy.
Who cites it
43 citing papers in PubMed, 4 syntheses or guidelines pooled it, 80 citations in OpenAlex.
- Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis.BMC medicine · 2022Pooled it
- UNC13A variant rs12608932 is associated with increased risk of amyotrophic lateral sclerosis and reduced patient survival: a meta-analysis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019Pooled it
- Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials.Neurology · 2017Pooled it
- C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.Annals of neurology · 2014Pooled it
- Distinct UNC13A Haplotype Blocks Define Disease Severity and Survival in Chinese Amyotrophic Lateral Sclerosis.European journal of neurology · 2026Article
- A genome-wide association study identifies the GPM6A locus associated with age at onset in ALS.Communications biology · 2025Article
- Neurodegenerative disease in C9orf72 repeat expansion carriers: population risk and effect of UNC13A.Brain : a journal of neurology · 2025Article
- Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.Nature genetics · 2025Article
- Munc13-1 restoration mitigates presynaptic pathology in spinal muscular atrophy.Nature communications · 2025Article
- Loss of synaptic Munc13-1 underlies neurotransmission abnormalities in spinal muscular atrophy.Cellular and molecular life sciences : CMLS · 2025Article
- Synaptopathy: presynaptic convergence in frontotemporal dementia and amyotrophic lateral sclerosis.Brain : a journal of neurology · 2024Review
- Article
- Intermediate Repeat Expansion in theBiomedicines · 2024Article
- Review
- Association of Copresence of Pathogenic Variants Related to Amyotrophic Lateral Sclerosis and Prognosis.Neurology · 2023Article
- The era of cryptic exons: implications for ALS-FTD.Molecular neurodegeneration · 2023Review
- TheBiomedicines · 2023Article
- Advances in sequencing technologies for amyotrophic lateral sclerosis research.Molecular neurodegeneration · 2023Review
- Atypical TDP-43 protein expression in an ALS pedigree carrying a p.Y374X truncation mutation in TARDBP.Brain pathology (Zurich, Switzerland) · 2023Article
- Role of the UNC13 family in human diseases: A literature review.AIMS neuroscience · 2023Review
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 2 countries.
Funding
Abstract
The common variant rs12608932, located within an intron of UNC13A gene on chromosome 19p13.3, has been suggested to influence susceptibility to amyotrophic lateral sclerosis (ALS), as well as survival, in patients of north European descent. To examine this possibility further, we evaluated the association of rs12608932 with susceptibility and survival in a population-based cohort of 500 Italian ALS patients and 1457 Italian control samples. Although rs12608932 was not associated with ALS susceptibility in our series (p = 0.124), it was significantly associated with survival under the recessive model (median survival for AA/AC genotypes = 3.5 years [interquartile range, 2.2-6.4]; CC = 2.5 years [interquartile range, 1.6-4.2]; p = 0.017). Furthermore, rs12608932 genotype remained an independent prognostic factor in Cox multivariable analysis adjusting for other factors known to influence survival (p = 0.023). Overall, minor allele carrier status of rs12608932 was strongly associated with an approximate 1-year reduction of survival in ALS patients, making it a significant determinant of phenotype variation. The identification of UNC13A as a modifier of prognosis among sporadic ALS patients potentially provides a new therapeutic target aimed at slowing disease progression.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.