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We aimed to identify in three patient cohorts, ultra-rare variants (frequency\u2009\u2264\u20090.00002) in genes whose mutations are associated with white matter dysfunction, and to examine impact of these variants on protein function in vitro, and neuroimaging and lipid profiles in vivo. Next generation sequencing (NGS) of N\u2009=\u2009289 patients with clinical FTD recruited through two dementia research clinics identified ultra-rare variants in established leukodystrophy genes, including ARSA. Further, novel and ultra-rare loss-of-function and missense variants in LAMA2 increased risk of disease in three independent cohorts, including N\u2009=\u2009598 MND and N\u2009=\u200914 logopenic variant primary progressive aphasia (lvPPA) patients (maximum odds ratio (OR) of 3.05, P\u2009=\u20090.0357 for FTD cohort, OR of 9.57, P\u2009=\u20090.0233 for lvPPA cohort, and 1.78, P\u2009=\u20090.0250 for MND cohort). An in vitro transfection assay demonstrated a loss-of-secretion phenotype in the subset of LAMA2 ultra-rare missense variants where the full-length proteins were translated but not secreted into growth media. LAMA2 ultra-rare variant carriers have a distinctive serum lipidomics profile compared with sporadic cases and cognitively normal controls. Finally, LAMA2 ultra-rare variants were associated with white matter changes in brain regions relevant to disease process. Our results broaden the phenotypes associated with LAMA2 from muscular dystrophies to include FTD, lvPPA and MND; and our data provide convergent evidence for the role of ultra-rare variants in LAMA2 as risk factors.<\/jats:p>","DOI":"10.1093\/hmg\/ddag034","type":"journal-article","created":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T11:40:43Z","timestamp":1776944443000},"source":"Crossref","is-referenced-by-count":0,"title":["Ultra-rare variants in\n                    <i>LAMA2<\/i>\n                    are risk factors for frontotemporal dementia and motor neuron disease"],"prefix":"10.1093","volume":"35","author":[{"given":"Hiu Chuen","family":"Lok","sequence":"first","affiliation":[{"name":"School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney , Camperdown, 2006 NSW ,","place":["Australia"]},{"name":"Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney , Camperdown, 2006 NSW 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Centre, Faculty of Medicine and Health, University of Sydney , Camperdown, 2006 NSW ,","place":["Australia"]},{"name":"School of Health Sciences, Faculty of Medicine and Health, The University of Sydney , Camperdown, 2006 NSW ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramon","family":"Landin-Romero","sequence":"additional","affiliation":[{"name":"Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney , Camperdown, 2006 NSW ,","place":["Australia"]},{"name":"School of Health Sciences, Faculty of Medicine and Health, The University of Sydney , Camperdown, 2006 NSW ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boris","family":"Guennewig","sequence":"additional","affiliation":[{"name":"School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney , Camperdown, 2006 NSW ,","place":["Australia"]},{"name":"Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney , Camperdown, 2006 NSW ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamish","family":"Mundell","sequence":"additional","affiliation":[{"name":"School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney , Camperdown, 2006 NSW ,","place":["Australia"]},{"name":"Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney , Camperdown, 2006 NSW ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony S","family":"Don","sequence":"additional","affiliation":[{"name":"School of Medical Sciences, Faculty of Medicine and Health, The University of Sydney , Camperdown, 2006 NSW ,","place":["Australia"]},{"name":"Brain and Mind Centre, Faculty of Medicine and Health, University of Sydney , Camperdown, 2006 NSW ,","place":["Australia"]},{"name":"Charles Perkins Centre, The University of Sydney , Camperdown, 2006 NSW 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University , Sydney, 2109 NSW ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian P","family":"Blair","sequence":"additional","affiliation":[{"name":"Macquarie University Centre for Motor Neuron Disease Research, Macquarie Medical School, Faculty of Medicine, Health and Human Sciences, Macquarie University , Sydney, 2109 NSW ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4143-8941","authenticated-orcid":false,"given":"Karen A","family":"Mather","sequence":"additional","affiliation":[{"name":"Centre for Healthy Brain Ageing, Discipline of Psychiatry and Mental Health, School of Clinical Medicine, Faculty of Medicine and Health, UNSW \u00a0 Sydney, 2052 NSW ,","place":["Australia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anbupalam","family":"Thalamuthu","sequence":"additional","affiliation":[{"name":"Centre for Healthy Brain Ageing, Discipline of 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