{
  "abstract": "Introduction Val122Ile is one of the most common hATTR variants typically presenting with cardiomyopathy. Concurrent peripheral neuropathy has been reported as frequent(94%) 1. We aimed to characterise the neuropathy in Val122Ile hATTR from the UK amyloidosis cohort.Methods We retrospectively reviewed the records of all individuals in the NHNN Inherited Neuropathy Clinic with confirmed Val122Ile hATTR between January 2019-October 2024. As neuropathy was an essential criterion for prescription of gene silencers (the only UK licensed hATTR amyloidosis therapy during this period), all patients with Val122Ile hATTR were referred, leading to an unselected cohort.Results We identified 54 symptomatic Val122Ile hATTR individuals (49 heterozygote/5 homozygous). The presenting symptom was cardiac in 48/54(89%) and neuropathic in 6/54(11%). Average age at diagnosis was 70.6±12.4 years.21/54(39%) had symptoms suggestive of neuropathy with an average 4.9±3.6 years of symptoms. 20/54(37%) had signs suggestive of neuropathy. Average Neuropathy Impairment Score was 8.7±10.2.Following investigations/assessment, 21/54(39%) of individuals had clinical features, neurophysiology and/or skin biopsies consistent with a neuropathy from amyloidosis (8 large-fibre/13 small-fibre). 7/54(13%) had neuropathy due to alternate aetiologies (e.g. diabetes).Conclusion We provide real-world experience from the UK national cohort of Val122Ile hATTR, demonstrating that, in our cohort, peripheral neuropathy is milder and less frequent than previously reported 1. 1 Zampino, Serena, et al. ”Phenotypes Associated with the Val122Ile, Leu58His, and late-onset Val30Met variants in patients with Hereditary Transthyretin Amyloidosis.” Neurology 2023;100.19: e2036-e2044.victorzhang93@gmail.com",
  "authors": [
    {
      "affiliations": [
        "UCL Queen Square Institute of Neurology, National Hospital for Neurology and Neurosurgery (NHNN)"
      ],
      "name": "Zhang Victor Jia Wei"
    },
    {
      "affiliations": [
        "UCL Queen Square Institute of Neurology, National Hospital for Neurology and Neurosurgery (NHNN)"
      ],
      "name": "O’Donnell Luke F"
    },
    {
      "affiliations": [
        "UCL Queen Square Institute of Neurology, National Hospital for Neurology and Neurosurgery (NHNN)"
      ],
      "name": "Skorupinska Mariola"
    },
    {
      "affiliations": [
        "UCL Queen Square Institute of Neurology, National Hospital for Neurology and Neurosurgery (NHNN)"
      ],
      "name": "Rossor Alexander M"
    },
    {
      "affiliations": [
        "National Amyloidosis Centre, Royal Free Hospital"
      ],
      "name": "Gillmore Julian D"
    },
    {
      "affiliations": [
        "UCL Queen Square Institute of Neurology, National Hospital for Neurology and Neurosurgery (NHNN)"
      ],
      "name": "Reilly Mary M"
    }
  ],
  "title": "20 Peripheral neuropathy in Val122Ile (Val142Ile) variant hereditary transthyretin-mediated (hATTR) amyloidosis: UK experience",
  "uid": "8ec400df-2dc8-5b3b-9ecc-1c0205729152"
}