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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

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.

  • HMSN1a
  • neuropathy
  • immune
  • HMSN1a, hereditary motor and sensory neuropathy type 1a; PMP22, peripheral nerve myelin protein 22; IL-6, interleukin-6; sTNF R1, soluble tumour necrosis factor receptor 1; ONPs, other neuropathies; EAN, experimental autoimmune neuritis; GBS, Guillain-Barré syndrome; CIDP, chronic inflammatory demyelinating polyradiculoneuropathy; NDS, neurological disability score; GNDS, Guy's neurological disability score; CMAP, compound motor action potentials; SNAPs, sensory nerve action potentials; NCVs, nerve conduction velocities; ECD1 and ECD2, first and second extracellular domain peptides; AIDP, acute inflammatory demyelinating polyradiculoneuropathy; IDP, inflammatory demyelinating polyradiculoneuropathy; DAB, 3,3'
  • diaminobenzidine
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