ArticleNeurobiology of aging2019
UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis.
Article in Neurobiology of aging, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 47 citations in OpenAlex.
- The UNC13A cryptic exon associates with cognitive impairment in Alzheimer's disease.Alzheimer's research & therapy · 2026Article
- Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.Nature genetics · 2025Article
- Deciphering distinct genetic risk factors for FTLD-TDP pathological subtypes via whole-genome sequencing.Nature communications · 2025Article
- Non-coding variation in dementias: mechanisms, insights, and challenges.NPJ dementia · 2025Review
- Cumulative incidence of motor and cognitive features in the amyotrophic lateral sclerosis-frontotemporal degeneration spectrum.Brain communications · 2025Article
- Transcorneal electrical stimulation restores DNA methylation changes in retinal degeneration.Frontiers in molecular neuroscience · 2024Article
- The role ofFrontiers in neuroscience · 2024Article
- Review
- The era of cryptic exons: implications for ALS-FTD.Molecular neurodegeneration · 2023Review
- TDP-43 and other hnRNPs regulate cryptic exon inclusion of a key ALS/FTD risk gene, UNC13A.PLoS biology · 2023Article
- Genetic disorders of neurotransmitter release machinery.Frontiers in synaptic neuroscience · 2023Review
- Role of the UNC13 family in human diseases: A literature review.AIMS neuroscience · 2023Review
- Association of the risk factorFrontiers in aging neuroscience · 2023Article
- Clinical and Metabolic Signature ofNeurology. Genetics · 2022Article
- Blood biomarkers in ALS: challenges, applications and novel frontiers.Acta neurologica Scandinavica · 2022Review
- Article
- An interaction between synapsin and C9orf72 regulates excitatory synapses and is impaired in ALS/FTD.Acta neuropathologica · 2022Article
- Alternative splicing modulation by G-quadruplexes.Nature communications · 2022Article
- Cracking the cryptic code in amyotrophic lateral sclerosis and frontotemporal dementia: Towards therapeutic targets and biomarkers.Clinical and translational medicine · 2022Article
- Article
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
Abstract
The majority (90%-95%) of amyotrophic lateral sclerosis (ALS) is sporadic, and ∼50% of patients develop symptoms of frontotemporal degeneration (FTD) associated with shorter survival. The genetic polymorphism rs12608932 in UNC13A confers increased risk of sporadic ALS and sporadic FTD and modifies survival in ALS. Here, we evaluate whether rs12608932 is also associated with frontotemporal disease in sporadic ALS. We identified reduced cortical thickness in sporadic ALS with T1-weighted magnetic resonance imaging (N = 109) relative to controls (N = 113), and observed that minor allele (C) carriers exhibited greater reduction of cortical thickness in the dorsal prefrontal, ventromedial prefrontal, anterior temporal, and middle temporal cortices and worse performance on a frontal lobe-mediated cognitive test (reverse digit span). In sporadic ALS with autopsy data (N = 102), minor allele homozygotes exhibited greater burden of phosphorylated tar DNA-binding protein-43 kda (TDP-43) pathology in the middle frontal, middle temporal, and motor cortices. Our findings demonstrate converging evidence that rs12608932 may modify frontotemporal disease in sporadic ALS and suggest that rs12608932 may function as a prognostic indicator and could be used to define patient endophenotypes in clinical trials.
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