{
  "abstract": "Inherited neuropathies are a diverse group of diseases, ranging from those where neuropathy is the primary feature to those occurring within multisystem disorders. Sensory-ataxic-neuropathy (SAN) presents with loss of proprioception and vibration sense, with relatively preserved muscle strength. Deletions in ITRP1 have been associated with a variable phenotype including ataxia, dysarthria, nystagmus, and rarely peripheral neuropathy. A 57-year-old woman presented with a chronic asymmetrical neuropathy, accompanied by numbness, and shooting pains who was treated with cyclophosphamide and prednisolone at local hospital for a possible vasculitis. Neurophysiology revealed a patchy axonal, sensory polyneuropathy mainly affecting the upper limbs. Investigations revealed positive ENA antibodies, rheumatoid factors as well as a foci of lymphocytes on lip biopsy. Cerebrospinal fluid (CSF) was normal, and dorsal ulnar and sural nerve biopsies did not show evidence of inflammation. A trial of IVIG was administered for a possible Sjogren neuropathy without objective clinical improvement. She experienced slow disease progression over 10 years and developed mild head titubation. Whole-genome-sequencing identified a heterozygous ~6.5Mbp terminal copy-number-loss on chromosome 3 involving the ITPR1 gene. We report an ITPR1 deletion in a patient with a SAN, highlighting its genetic and phenotypical heterogeneity and identifying ITPR1 as a cause of isolated SAN.saif.haddad@ucl.ac.uk",
  "authors": [
    {
      "affiliations": [
        "Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute"
      ],
      "name": "Haddad Saif"
    },
    {
      "affiliations": [
        "Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute"
      ],
      "name": "Morsey Heba"
    },
    {
      "affiliations": [
        "Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute"
      ],
      "name": "Rossor Alex"
    },
    {
      "affiliations": [
        "Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute"
      ],
      "name": "Laura Matilde"
    },
    {
      "affiliations": [
        "Neurogenetics laboratory, National Hospital for Neurology and Neurosurgery and North Thames Genomi"
      ],
      "name": "Poh Roy"
    },
    {
      "affiliations": [
        "Neurogenetics laboratory, National Hospital for Neurology and Neurosurgery and North Thames Genomi"
      ],
      "name": "Polke James"
    },
    {
      "affiliations": [
        "Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute",
        "Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital"
      ],
      "name": "Blake Julian"
    },
    {
      "affiliations": [
        "Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute"
      ],
      "name": "Reilly Mary M"
    }
  ],
  "title": "10 ITPR1 deletion causing a sensory ataxic neuropathy",
  "uid": "b17a2d0f-491a-57e3-88a8-377afcac175e"
}