{
  "abstract": "Motor neuron disease (MND) is a progressive neurodegenerative disorder primarily affecting motor neurons in the central nervous system. It includes both sporadic and familial forms, with familial MND accounting for 5–10% of cases. Despite this, the genetic basis of MND is often underrepresented in clinical practice. Recent advancements in genetic testing, particularly through neuromuscular panels, have significantly enhanced our understanding of the disease, offering new insights and enabling targeted therapies.Our study analysed 354 MND patients who agreed to genetic testing, of which 116 (32.8%) tested positive for genetic mutations, and 238 (67.3%) showed no identified genetic mutation. The most prevalent mutations were C9orf72 (64 patients, 55.2%), SOD1 (29 patients, 25%), and TARDBP (6 patients, 5.2%). An additional 17 patients (14.7%) exhibited various other mutations. Among the gene-positive patients, 76 (65.5%) were familial and 39 (33.6%) were sporadic. In contrast, among the gene-negative group, 20 (8.4%) had a familial link and 218 (91.6%) were sporadic.This study highlights the underappreciated role of genetic testing in MND, revealing that a significant proportion of patients with identifiable genetic mutations may have been misclassified as non-genetic. The identification of these mutations opens the door to disease-modifying therapies (e.g., Tofersen for SOD1), which have the potential to alter disease progression.Our findings emphasise the critical need for genetic discussion and consideration of testing in MND management, with implications for gene-specific treatments and family screening.",
  "authors": [
    {
      "affiliations": [
        "Neurology, Royal Brisbane and Women’s Hospital, Brisbane, QLD, Australia"
      ],
      "name": "John Girgis"
    },
    {
      "affiliations": [
        "Neurology, Royal Brisbane and Women’s Hospital, Brisbane, QLD, Australia"
      ],
      "name": "Robert Henderson"
    },
    {
      "affiliations": [
        "Neurology, Royal Brisbane and Women’s Hospital, Brisbane, QLD, Australia"
      ],
      "name": "Pamela McCombe"
    }
  ],
  "title": "CS16 Genetic testing in motor neuron disease: prevalence, implications, and emerging therapies",
  "uid": "70583914-3370-59b2-9378-547d7c2339e9"
}