rss
J Neurol Neurosurg Psychiatry 72:230-235 doi:10.1136/jnnp.72.2.230
  • Paper

Immunological study of hereditary motor and sensory neuropathy type 1a (HMSN1a)

  1. C M Gabriel1,
  2. N A Gregson1,
  3. N W Wood2,
  4. R A C Hughes1
  1. 1Department of Neuroimmunology, Guy's King's and St Thomas' School of Medicine, Hodgkin Building, Guy's Hospital, London SE1 9RT, UK
  2. 2Institute of Neurology, University College, London, UK
  1. Correspondence to:
 Professor R A C Hughes, Department of Neuroimmunology, Guy's King's and St Thomas' School of Medicine, Hodgkin Building, Guy's Hospital, London SE1 1UL, UK;
 richard.a.hughes{at}kcl.ac.uk
  • Received 20 March 2001
  • Accepted 23 October 2001
  • Revised 3 September 2001

Abstract

Objectives: Fifty three patients were studied to investigate whether autoimmune or inflammatory mechanisms could explain the phenotypic heterogeneity of patients with hereditary motor and sensory neuropathy type 1a (HMSN1a). Methods: Serum samples were examined for antibodies to peripheral nerve myelin protein 22 (PMP22), ganglioside GM1 and cauda equina homogenate, and interleukin-6 (IL-6) and soluble tumour necrosis factor receptor 1 (sTNF R1) concentrations. Serological results were compared with those from patients with other neuropathies (ONPs, n=30) and with normal subjects (n=51).

Results: In the group as a whole, no relation emerged between clinical severity and any immune parameters. Immunohistochemical examination of four sural nerve biopsies did not show significant inflammatory infiltration. In a subset of 12 patients who experienced stepwise progression of disease, there was a trend towards a higher proportion having anti-PMP22 antibodies (33% v 15% of those with gradual disease progression, 3% ONPs, and no normal controls) and complement fixing antibodies to human cauda equina (25% v 5% with gradual progression, 8.6% ONPs, 3.9% normal controls, p=0.07).

Conclusions: Patients with HMSN1a and a stepwise disease progression may have an inflammatory, autoimmune component superimposed on the genetic condition.

Footnotes

    Podcasts
    Visit the full archive of podcasts for JNNP here >>

    Free sample
    This recent issue is free to all users to allow everyone the opportunity to see the full scope and typical content of JNNP.
    View free sample issue >>

    Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

    Navigate This Article