You are here

Article Text

Article menu
Download PDFPDF
Research Article
An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia.
  1. D Barnes,
  2. V P Misra,
  3. E P Young,
  4. P K Thomas,
  5. A E Harding
  1. National Hospital for Neurology and Neurosurgery, London, UK.

    Abstract

    A 42 year old man presented with a slowly progressive gait disturbance, generalised weakness, dysarthria, clumsiness and tremor of his hands, and involuntary jerks. Hexosaminidase A activity in plasma, leucocytes and fibroblasts was considerably reduced, establishing the diagnosis of GM2 gangliosidosis. Clinical examination showed two previously unreported features, a clinically evident sensory neuropathy and internuclear ophthalmoplegia.

    https://doi.org/10.1136/jnnp.54.12.1112

    Statistics from Altmetric.com

      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.