Article Text

Download PDFPDF

Giant axonal neuropathy: observations on a further patient.
  1. M Donaghy,
  2. E M Brett,
  3. I E Ormerod,
  4. R H King,
  5. P K Thomas
  1. Department of Neurological Science, Royal Free Hospital School of Medicine, London, UK.


    A further child with giant axonal neuropathy (GAN), abnormally curly hair and consanguineous parents is described. Of the 19 patients with GAN so far reported in the literature, six, including the present patient, have resulted from consanguineous marriages. This makes autosomal recessive inheritance of GAN highly probable. Our patient also exhibited cerebellar ataxia and signs of pyramidal tract damage; magnetic resonance brain imaging demonstrated abnormalities within the cerebellar and cerebral white matter. Myelinated nerve fibre density in the sural nerve was reduced to 6790/mm2 at age 8 years and had fallen to 3812/mm2 16 months later, indicating that progressive axonal loss occurs in GAN.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Linked Articles