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Coexistent hereditary and inflammatory neuropathy.

Lionel Ginsberg1, Omar Malik, Anthony R Kenton

  • 1University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, and Department of Neurology, Royal Free Hospital,UK. Lionel.Ginsberg@royalfree.nhs.uk

Brain : a Journal of Neurology
|November 11, 2003
PubMed
Summary

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Eight patients with Charcot-Marie-Tooth (CMT) disease experienced sudden worsening, suggesting a coexistent inflammatory neuropathy. This association, seen in CMT type 1A and X-linked CMT, warrants consideration for immunomodulatory treatment in affected individuals.

Area of Science:

  • Neurology
  • Genetics
  • Immunology

Background:

  • Charcot-Marie-Tooth (CMT) disease is typically a progressive hereditary neuropathy.
  • Atypical presentations with acute or subacute deterioration are rare but significant.

Observation:

  • Eight patients with CMT disease presented with sudden neurological decline.
  • Seven patients had genetically confirmed CMT type 1A (17p11.2-12 duplication), and one had CMT X-linked (GJB1 mutation).
  • Clinical, electrophysiological, and nerve biopsy findings indicated a superimposed inflammatory polyneuropathy in all eight patients.

Findings:

  • Nerve biopsies revealed significant lymphocytic infiltration in all patients.
  • A family history was present in only half the cases.
  • Treatment with steroids and/or IVIg showed variable positive responses in five patients.

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Implications:

  • Coexistent inflammatory neuropathy is not specific to certain CMT genotypes (e.g., CMT1A, CMTX).
  • The observed association between CMT and inflammatory neuropathy may be more frequent than expected by chance.
  • Acute deterioration in CMT patients should prompt consideration of treating a coexistent inflammatory neuropathy with immunomodulatory therapies.