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Although genomewide association studies (GWAS) have advanced our understanding of the disease, the precise manner in which risk polymorphisms contribute to disease pathogenesis remains unclear. Of relevance, GWAS have shown that a polymorphism (rs12608932) in the\n<jats:italic>UNC13A<\/jats:italic>\ngene is associated with risk for both ALS and frontotemporal dementia (FTD). Homozygosity for the C-allele at rs12608932 modifies the ALS phenotype, as these patients are more likely to have bulbar-onset disease, cognitive impairment and FTD at baseline as well as shorter survival. UNC13A is expressed in neuronal tissue and is involved in maintaining synaptic active zones, by enabling the priming and docking of synaptic vesicles. In the absence of functional TDP-43, risk variants in\n<jats:italic>UNC13A<\/jats:italic>\nlead to the inclusion of a cryptic exon in\n<jats:italic>UNC13A<\/jats:italic>\nmessenger RNA, subsequently leading to nonsense mediated decay, with loss of functional protein. Depletion of\n<jats:italic>UNC13A<\/jats:italic>\nleads to impaired neurotransmission. Recent discoveries have identified\n<jats:italic>UNC13A<\/jats:italic>\nas a potential target for therapy development in ALS, with a confirmatory trial with lithium carbonate in\n<jats:italic>UNC13A<\/jats:italic>\ncases now underway and future approaches with antisense oligonucleotides currently under consideration. Considering\n<jats:italic>UNC13A<\/jats:italic>\nis a potent phenotypic modifier, it may also impact clinical trial outcomes. This present review describes the path from the initial discovery of\n<jats:italic>UNC13A<\/jats:italic>\nas a risk gene in ALS to the current therapeutic options being explored and how knowledge of its distinct phenotype needs to be taken into account in future trials.\n<\/jats:p>","DOI":"10.1136\/jnnp-2022-330504","type":"journal-article","created":{"date-parts":[[2023,2,3]],"date-time":"2023-02-03T18:22:21Z","timestamp":1675448541000},"page":"649-656","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":65,"title":["<i>UNC13A<\/i>\nin amyotrophic lateral sclerosis: from genetic association to therapeutic target"],"prefix":"10.1136","volume":"94","clinical-trial-number":[{"clinical-trial-number":"nct05178810","registry":"10.18810\/clinical-trials-gov"}],"author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0198-5740","authenticated-orcid":false,"given":"Sean W","family":"Willemse","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Harley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7132-5967","authenticated-orcid":false,"given":"Ruben P A","family":"van Eijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koen C","family":"Demaegd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pavol","family":"Zelina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R Jeroen","family":"Pasterkamp","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4010-2357","authenticated-orcid":false,"given":"Philip","family":"van Damme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Ingre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wouter","family":"van Rheenen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5572-9657","authenticated-orcid":false,"given":"Jan H","family":"Veldink","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9054-026X","authenticated-orcid":false,"given":"Matthew C","family":"Kiernan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4924-7712","authenticated-orcid":false,"given":"Ammar","family":"Al-Chalabi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonard H","family":"van den Berg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro","family":"Fratta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A","family":"van Es","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2023,2,3]]},"reference":[{"key":"2025021202350582000_94.8.649.1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(17)31287-4"},{"key":"2025021202350582000_94.8.649.2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(10)61156-7"},{"key":"2025021202350582000_94.8.649.3","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(17)30115-1"},{"key":"2025021202350582000_94.8.649.4","doi-asserted-by":"crossref","unstructured":"Miller RG , Mitchell JD , Lyon M , et al . 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