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New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy
  1. Henry Houlden1,
  2. Mike Groves2,
  3. Zosia Miedzybrodzka4,
  4. Helen Roper5,
  5. Tracey Willis5,
  6. John Winer6,
  7. Gaynor Cole7,
  8. Mary M Reilly1
  1. 1
    Department of Molecular Neuroscience and Centre for Neuromuscular Disease, Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK
  2. 2
    Division of Neuropathology, Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK
  3. 4
    Department of Clinical Genetics, University of Aberdeen, Aberdeen, UK
  4. 5
    Department of Paediatrics, Birmingham Heartlands Hospital, University Hospital Birmingham, Birmingham, UK
  5. 6
    Department of Neurology, University Hospital Birmingham, Birmingham, UK
  6. 7
    The Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust Oswestry, Shropshire, UK
  1. Dr Henry Houlden, Department of Molecular Neuroscience, Institute of Neurology and the National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; h.houlden{at}ion.ucl.ac.uk

Abstract

Giant axonal neuropathy (GAN; MIM 256850) is a severe childhood onset autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system. Bomont and colleagues identified a novel ubiquitously expressed gene they named Gigaxonin on chromosome 16q24 as the cause of GAN in a number of families. We analysed five families with GAN for mutations in the Gigaxonin gene and mutations were found in four families; three families had homozygous mutations, one had two compound heterozygous mutations and one family had no mutation identified. All families had the typical clinical features, kinky hair and nerve biopsy. We report some unusual clinical features associated with GAN and Gigaxonin mutations as well as confirm the heterogeneity in GAN and the identification of two families with manifesting carriers.

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Footnotes

  • Competing interests: None.

  • Abbreviation:
    GAN
    giant axonal neuropathy

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