CMT type 1A: clinicopathological correlations in 24 patients

February 11, 2005

J Peripher Nerv Syst. 2005 Mar;10(1):85-92.

Charcot-Marie-Tooth disease type 1A: clinicopathological correlations in 24

patients.

Carvalho AA, Vital A, Ferrer X, Latour P, Lagueny A, Brechenmacher C, Vital C.

Neuropathology Department, Victor Segalen University, Pessac, Bordeaux, France.

Abstract:

We examined nerve biopsies from 24 patients with Charcot-Marie-Tooth disease

type 1A (CMT1A) and proven 17p11.2-12 duplication. There were seven males and 17

females with a mean age of 27.85 +/- 18.95 years at the time of nerve biopsy. A

family history consistent with dominant inheritance was present in 17 patients.

Clinical features were classical in 16 patients and were atypical in the other

eight: one had calf hypertrophy; two had Roussy-Levy syndrome; one had had a

subacute inflammatory demyelinating polyneuropathy 11 years earlier and

presented a relapse on the form of a chronic inflammatory demyelinating

polyneuropathy; one had carpal tunnel syndrome; one had a recent painful

neuropathy in both legs; and two had chronic inflammatory demyelinating

polyneuropathy. Onion bulb formations (OMFs) were present in every case and most

of them were characteristic, whereas burnt-out or cluster-associated OMFs were

less common. Depletion of myelinated fibers was severe in 20 cases

(169-2927/mm(2)) and varied from 5187 to 3725/mm(2) in three children (4-9 years

old). In addition, features of macrophage-associated demyelination were observed

in the last four atypical cases. Known for more than 20 years, inflammatory

demyelination superimposed in the course of CMT1A has been reported in a few

cases in the past few years, mainly concerning asymptomatic or atypical

patients. Such an association deserves to be better known because corticotherapy

improves weakness in most of these patients.

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