CMT 1A: Genetically determined neuropathy accompanied by immune dysfunction

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Inflamm Res. 2009 Mar 10.

Genetically determined neuropathy (CMT 1A) accompanied by immune dysfunction: a

case report.

Pál Z, Kiss E, Gál A, Csépány T, Lengyel A, Molnar MJ.

Department of Neurology, University of Debrecen, Debrecen, Hungary

Peripheral Myelin Protein 22 (PMP22) is mostly expressed in Schwann cells where

it is essential in the compaction of myelin. The duplication of the PMP22 gene

results in a hereditary demyelinating neuropathy of the Charcot-Marie-Tooth type

1A (CMT1A).

So far there are only a few case reports suggesting that dysimmune mechanisms

may take part in the pathophysiology of this disease.

We describe three siblings carrying the duplication of the PMP22 gene, with a

significant reduction of serum immunoglobulin G levels in all three cases and

sural nerve vasculitis in the two women, which supports the proposition, that

immune dysfunction may accompany this disease in some cases.