CMT Type 1 Research Update

[Guest guest]

Abstract from Lancet Neurol. 2004 Aug;3(8):457-65.

Immune-mediated components of hereditary demyelinating neuropathies:

lessons from animal models and patients.

i R, Toyka KV.

Department of Neurology, University of Wuerzburg, Germany.

Most demyelinating forms of Charcot-Marie-Tooth type 1 (CMT1) neuropathy

are slowly progressive and do not respond to anti-inflammatory

treatment. In nerve biopsy samples, overt lymphocytic infiltration is

absent, but pathological features typical of macrophage-related

demyelination have been reported. In mouse models of CMT1, demyelination

was substantially reduced when the mutants were backcrossed into an

immunodeficient genetic background. A few individual patients with CMT1

respond to anti-inflammatory treatment; however, unlike most patients

with CMT1, these patients show accelerated worsening of symptoms,

inflammatory infiltrates in nerve biopsies, and clinical features

resembling chronic inflammatory demyelinating polyneuropathy as well as

CMT1. We conclude that in patients with typical CMT1 and in animal

models, a cryptic and mild inflammatory process not responsive to

standard anti-inflammtory treatment fosters genetically mediated

demyelination.