{
  "abstract": "Purpose Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative motor neuron disease (MND) with heterogeneity in disease onset, progression and treatment response. The Strategic ALS Australia–Systems Genomics Consortium (SALSA-SGC) was established in recognition of the need for large data sets of clinical data matched with biological samples to enable and foster ALS research and better understanding of aetiology and biological mechanisms. SALSA-SGC brought together the major Australian MND clinics to set up sustainable infrastructure that could facilitate long-term human ALS research and clinical trials nationally and internationally.Participants Between April 2016 and December 2024, SALSA-SGC recruited 1813 participants, including 1386 ALS/MND cases, 388 controls and 39 others (asymptomatic relatives and ALS mimics). Clinical data and biospecimens are available for 1333 and 1189 ALS cases, respectively, with longitudinal data spanning 4442 total clinic visits and 3201 samples. An open-access online data explorer showcases collected datasets.Findings to date Detailed clinical and questionnaire data allow an in-depth description of the cohort, informing clinical and health policy research. Screening for known ALS large-effect risk variants identified 125 mutation carriers (11.5% from N=1059), including 70 with C9orf72 expansions. Single Nucleotide Polymorphism (SNP)-array data (N=1088 cases; N=244 controls) have supported multiple published studies. SALSA-SGC resources are actively used by national and international researchers.Future plans Ongoing efforts aim to expand recruitment into regional Australia and enhance sample processing for cell-based studies. The SALSA-SGC resource is accessible by researchers under agreements governed by participant consent, human ethics committee guidelines and agreed use of data and samples.",
  "authors": [
    {
      "affiliations": [
        "Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia"
      ],
      "name": "Anjali K Henders"
    },
    {
      "affiliations": [
        "Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia"
      ],
      "name": "Laura Ziser"
    },
    {
      "affiliations": [
        "Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia"
      ],
      "name": "Fleur C Garton"
    },
    {
      "affiliations": [
        "Motor Neuron Disease Research Centre, Macquarie University, Sydney, New South Wales, Australia"
      ],
      "name": "Lorel Adams"
    },
    {
      "affiliations": [
        "Department of Neurology, Flinders Medical Centre, Bedford Park, South Australia, Australia"
      ],
      "name": "Karalyn Ernst"
    },
    {
      "affiliations": [
        "Motor Neuron Disease Research Centre, Macquarie University, Sydney, New South Wales, Australia"
      ],
      "name": "Sarah Furlong"
    },
    {
      "affiliations": [
        "Motor Neuron Disease Research Centre, Macquarie University, Sydney, New South Wales, Australia"
      ],
      "name": "Judith Anne Heads"
    },
    {
      "affiliations": [
        "Department of Neurology, Royal Brisbane and Women’s Hospital, Herston, Queensland, Australia"
      ],
      "name": "Susan Heggie"
    },
    {
      "affiliations": [
        "Neurology, Calvary Health Care Bethlehem, Caulfield South, Victoria, Australia"
      ],
      "name": "Ruth Krasniqi"
    },
    {
      "affiliations": [
        "Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia"
      ],
      "name": "Madhura Bhadravathi Lokeshappa"
    },
    {
      "affiliations": [
        ", Neuroscience Research Australia, Randwick, New South Wales, Australia"
      ],
      "name": "Srestha Mazumder"
    },
    {
      "affiliations": [
        "Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia"
      ],
      "name": "Elyshia McNamara"
    },
    {
      "affiliations": [
        "Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia"
      ],
      "name": "Amanda MacShane"
    },
    {
      "affiliations": [
        "Australia Brain and Nerve Research Center, Concord Hospital, Sydney, New South Wales, Australia"
      ],
      "name": "Linda Mekhael"
    },
    {
      "affiliations": [
        "Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia"
      ],
      "name": "Lorelle Nunn"
    },
    {
      "affiliations": [
        "Australia Brain and Nerve Research Center, Concord Hospital, Sydney, New South Wales, Australia"
      ],
      "name": "Bronwen Orden"
    },
    {
      "affiliations": [
        "Australia Brain and Nerve Research Center, Concord Hospital, Sydney, New South Wales, Australia"
      ],
      "name": "Julie Ryder"
    },
    {
      "affiliations": [
        "Department of Neurology, Royal Brisbane and Women’s Hospital, Herston, Queensland, Australia"
      ],
      "name": "Kathryn Thorpe"
    },
    {
      "affiliations": [
        "Department of Neurology, Flinders Medical Centre, Bedford Park, South Australia, Australia"
      ],
      "name": "Marie Toubia"
    },
    {
      "affiliations": [
        "Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia"
      ],
      "name": "Leanne M Wallace"
    },
    {
      "affiliations": [
        "Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane, Queensland, Australia"
      ],
      "name": "Dina Wickremeratne"
    },
    {
      "affiliations": [
        "Neurology, Calvary Health Care Bethlehem, Caulfield South, Victoria, Australia"
      ],
      "name": "Emma Windebank"
    },
    {
      "affiliations": [
        "Australian Centre for Precision Health, University of South Australia, Adelaide, South Australia, Australia"
      ],
      "name": "Beben Benyamin"
    },
    {
      "affiliations": [
        "Australian Institute for Bioengineering and Nanotechnology, The University of Queensland, Brisbane, Queensland, Australia",
        "School of Biomedical Sciences, The University of Queensland, Saint Lucia, Queensland, Australia"
      ],
      "name": "Shyuan Ngo"
    },
    {
      "affiliations": [
        "Australia Brain and Nerve Research Center, Concord Hospital, Sydney, New South Wales, Australia",
        "Concord Clinical School, Concord Hospital, Sydney, New South Wales, Australia",
        "Sydney Medical School, The University of Sydney, New South Wales, Sydney, New South Wales, Australia"
      ],
      "name": "Garth Nicholson"
    },
    {
      "affiliations": [
        "Sydney Medical School, The University of Sydney, New South Wales, Sydney, New South Wales, Australia",
        "Pathology, The University of Sydney, Sydney, New South Wales, Australia",
        "Brain and Mind Centre, The University of Sydney, Sydney, New South Wales, Australia",
        "Department of Neuropathology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia"
      ],
      "name": "Roger Pamphlett"
    },
    {
      "affiliations": [
        "School of Biomedical Sciences, The University of Queensland, Saint Lucia, Queensland, Australia"
      ],
      "name": "Frederik J Steyn"
    },
    {
      "affiliations": [
        "Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia",
        "Nuffield Department of Population Health, University of Oxford, Oxford, UK"
      ],
      "name": "Peter M Visscher"
    },
    {
      "affiliations": [
        "Motor Neuron Disease Research Centre, Macquarie University, Sydney, New South Wales, Australia"
      ],
      "name": "Kelly L Willams"
    },
    {
      "affiliations": [
        "Department of Neurology, Royal Brisbane and Women’s Hospital, Herston, Queensland, Australia",
        "University Of Queensland Centre For Clinical Research, Herston, Queensland, Australia"
      ],
      "name": "Robert Henderson"
    },
    {
      "affiliations": [
        ", Neuroscience Research Australia, Randwick, New South Wales, Australia",
        "Department of Neurology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia",
        "Neuroscience, The University of New South Wales, Sydney, New South Wales, Australia"
      ],
      "name": "Matthew C Kiernan"
    },
    {
      "affiliations": [
        "Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia"
      ],
      "name": "Nigel Laing"
    },
    {
      "affiliations": [
        "Neurology, Calvary Health Care Bethlehem, Caulfield South, Victoria, Australia"
      ],
      "name": "Susan Mathers"
    },
    {
      "affiliations": [
        "University Of Queensland Centre For Clinical Research, Herston, Queensland, Australia",
        "UQ Centre for Clinical Research, University of Queensland, Brisbane, Queensland, Australia"
      ],
      "name": "Pamela A McCombe"
    },
    {
      "affiliations": [
        "Department of Neurology, Fiona Stanley Hospital, Perth, Western Australia, Australia",
        "CMMIT, Murdoch University, Murdoch, Western Australia, Australia",
        "School of Medicine, University of Notre Dame, Perth, Western Australia, Australia"
      ],
      "name": "Merrilee Needham"
    },
    {
      "affiliations": [
        "Motor Neuron Disease Research Centre, Macquarie University, Sydney, New South Wales, Australia"
      ],
      "name": "Dominic Rowe"
    },
    {
      "affiliations": [
        "Department of Neurology, Flinders Medical Centre, Bedford Park, South Australia, Australia"
      ],
      "name": "David Schultz"
    },
    {
      "affiliations": [
        "University Hospital, Deakin University Faculty of Science and Technology, Geelong, Victoria, Australia"
      ],
      "name": "Paul Talman"
    },
    {
      "affiliations": [
        "Australia Brain and Nerve Research Center, Concord Hospital, Sydney, New South Wales, Australia",
        "Concord Clinical School, Concord Hospital, Sydney, New South Wales, Australia",
        "Concord Clinical School, Concord Hospital, Concord, New South Wales, Australia"
      ],
      "name": "Steve Vucic"
    },
    {
      "affiliations": [
        "Motor Neuron Disease Research Centre, Macquarie University, Sydney, New South Wales, Australia"
      ],
      "name": "Ian P Blair"
    },
    {
      "affiliations": [
        "Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia"
      ],
      "name": "Allan F McRae"
    },
    {
      "affiliations": [
        "Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia",
        "Department of Psychiatry, University of Oxford, Oxford, UK"
      ],
      "name": "Naomi R Wray"
    }
  ],
  "title": "Strategic Amyotrophic Lateral Sclerosis Australia–Systems Genomics Consortium (SALSA-SGC): cohort profile",
  "uid": "b7da52b1-01c3-5fcb-a938-82c74da88a14"
}