Brain Advance Access originally published online on November 7, 2003
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Brain, Vol. 127, No. 1, 193-202, 2004
© 2004 Guarantors of Brain
doi: 10.1093/brain/awh017
Coexistent hereditary and inflammatory neuropathy
1 University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, 2 Department of Neurology, Royal Free Hospital, 3 Neurogenetics Laboratory, Institute of Neurology, London and 4 Birmingham Neuroscience Centre, Queen Elizabeth Hospital, Birmingham, UK
Correspondence to: Dr L. Ginsberg, Department of Neurology, Royal Free Hospital, Pond Street, London NW3 2QG, UK E-mail: Lionel.Ginsberg{at}royalfree.nhs.uk
Classically, the course of Charcot–Marie–Tooth (CMT) disease is gradually progressive. We describe eight atypical patients who developed acute or subacute deterioration. Seven of these had genetically proven CMT disease type 1A (CMT1A) due to chromosome 17p11.2–12 duplication, and one had X-linked disease (CMTX) due to a mutation in the GJB1 gene. In this group there was sufficient clinical, electrophysiological and neuropathological information to indicate a diagnosis of a superimposed inflammatory polyneuropathy. The age range of the patients was 18–69 years, with a mean of 39 years. A family history of a similar neuropathic condition was present in only four patients. All eight had an acute or subacute deterioration following a long asymptomatic or stable period. Seven had neuropathic pain or prominent positive sensory symptoms. Nerve biopsy demonstrated excess lymphocytic infiltration in all eight patients. Five patients were treated with steroids and/or intravenous immunoglobulin, with variable positive response; three patients received no immunomodulatory treatment. Inflammatory neuropathy has previously been recognized in patients with hereditary neuropathy, with uncharacterized genetic defects and with CMT1B. We present detailed assessments of patients with CMT1A and CMTX, including nerve biopsy, and conclude that coexistent inflammatory neuropathy is not genotype-specific in hereditary motor and sensory neuropathy. Although this was not a formal epidemiological study, estimates of the prevalence of CMT disease and chronic inflammatory demyelinating polyneuropathy indicate that the association is more frequent than would be expected by chance. This has implications for understanding the pathogenesis of inflammatory neuropathies and raises important considerations in the management of patients with hereditary neuropathies. If a patient with CMT disease experiences an acute or subacute deterioration in clinical condition, treatment of a coexistent inflammatory neuropathy with steroids or immunoglobulin should be considered.
Key Words: Charcot–Marie–Tooth disease; chronic inflammatory demyelinating polyneuropathy; peripheral nerve; nerve biopsy; neuropathy
Abbreviations: CIDP = chronic inflammatory demyelinating polyneuropathy; CMT = Charcot–Marie–Tooth; CMT1A = Charcot–Marie–Tooth disease type 1A; CMT1B = Charcot–Marie–Tooth disease type 1B; CMTX = X-linked Charcot–Marie–Tooth disease; MCV = motor nerve conduction velocity; MPZ = myelin protein zero gene; PMP22 = peripheral myelin protein 22; SAP = sensory nerve action potential
Received June 13, 2003. Revised August 19, 2003. Accepted August 20, 2003.
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