{
  "abstract": "Introduction Clinical and genetic overlap of genetic neurological disorders is increasingly evident with widespread use of next-generation sequencing. However, clinical and research departments are often geographically and organisationally distinct. We hypothesised that a joint neuropathy-mitochondrial multidisciplinary team meeting (MDT) could facilitate enhanced diagnostics and management of our patients.Methods Patients were assessed at a specialist inherited neuropathy centre or the NHS Highly Specialised Services for rare mitochondrial disorders. Eighteen genetically undiagnosed families were discussed over three, one-hour meetings.Results Action plans were generated for all eighteen families, including further clinical phenotyping, reanalysis of existing genomic data, additional genetic testing and advanced analysis of existing histological samples e.g. muscle biopsies. To date, nine families (50%) have a secure genetic diagnosis following this meeting, accounting for at least part of their neurological syndrome, and a further two have a promising genetic candidate. These include POLG-related neuropathy, intellectual disability and retinitis pigmentosa syndrome due to recessive SCAPER variants, NDUFAF2-related neuropathy, ataxia and optic atrophy syndrome and MT-ATP6 myeloneuropathy. ConclusionsAn MDT combining the approaches of two specialist services has allowed a 50% diagnostic rate for previously undiagnosed patients. This highlights the benefit of interdisciplinary working which can be extrapolated to other disease groups.chris.record@ucl.ac.uk",
  "authors": [
    {
      "affiliations": [
        "Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London"
      ],
      "name": "Record Christopher J"
    },
    {
      "affiliations": [
        "Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London"
      ],
      "name": "Macken William L"
    },
    {
      "affiliations": [
        "Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London"
      ],
      "name": "Skorupinska Mariola"
    },
    {
      "affiliations": [
        "Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London"
      ],
      "name": "Haddad Saif"
    },
    {
      "affiliations": [
        "Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London"
      ],
      "name": "Rossor Alexander M"
    },
    {
      "affiliations": [
        "Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London"
      ],
      "name": "Laura Matilda"
    },
    {
      "affiliations": [
        "Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London"
      ],
      "name": "Hanna Michael G"
    },
    {
      "affiliations": [
        "Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London"
      ],
      "name": "Pitceathly Robert DS"
    },
    {
      "affiliations": [
        "Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London"
      ],
      "name": "Reilly Mary M"
    }
  ],
  "title": "42 Usefulness of a neuropathy-mitochondrial multidisciplinary team meeting",
  "uid": "b54fc33a-a444-5099-ac78-9be3aae3bdab"
}