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New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy
  1. Henry Houlden (h.houlden{at}ion.ucl.ac.uk)
  1. National hospital for Neurology and neurosurg, United Kingdom
    1. Mike Groves
    1. National hospital for Neurology and neurosurg, United Kingdom
      1. Zosia Miedzybrodzka
      1. Department of Clinical Genetics, University of Aberdeen, United Kingdom
        1. Helen Roper
        1. Department of Paediatrics, Birmingham Heartlands Hospital, United Kingdom
          1. Tracey Willis
          1. Department of Paediatrics, Birmingham Heartlands Hospital, United Kingdom
            1. John Winer
            1. Department of Neurology, University Hospital Birmingham, United Kingdom
              1. Gaynor Cole
              1. The Robert Jones & Agnes Hunt Orthopaedic & District Hospital NHS Trust Oswestry, United Kingdom
                1. M M Reilly (m.reilly{at}ion.ucl.ac.uk)
                1. National Hospital for Neurol & Neurosurg, United Kingdom

                  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 GAN families for mutations in the Gigaxonin gene, mutations were found in four families; three families with homozygous mutations, one with 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 heterogeneity in GAN and the identification of two families with manifesting carriers.

                  • gene
                  • giant axonal neuropathy
                  • gigaxonin
                  • inherited neuropathy
                  • mutations

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