Coexistent hereditary and inflammatory neuropathy REPOST

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Brain. 2004 Jan;127(Pt 1):193-202.

Coexistent hereditary and inflammatory neuropathy.

Ginsberg L, Malik O, Kenton AR, Sharp D, Muddle JR, MB, Winer

JB, Orrell RW, King RH.

University Department of Clinical Neurosciences, Royal Free and

University College Medical School, University College London, and

Department of Neurology, Royal Free Hospital,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.