Paper on Coexistent hereditary and inflammatory neuropathy

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Brain, Vol. 127, No. 1, 193-202, 2004

Coexistent hereditary and inflammatory neuropathy

Lionel Ginsberg1,2, Malik2, R. Kenton4, Sharp2,

R. Muddle2, B. 3, B. Winer4, W.

Orrell1,2 and lind H. M. King1

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 Hospital, Birmingham, UK

Correspondence to: Dr L. Ginsberg, Department of Neurology, Royal

Free Hospital, Pond Street, London NW3 2QG, 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

Full paper at:

http://brain.oxfordjournals.org/cgi/content/full/127/1/193