CMT 1B: Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid ne

[Guest guest]

Muscle Nerve. 2008 Jun 18;38(1):921-923

Axonal neuropathy due to myelin protein zero mutation misdiagnosed as

amyloid neuropathy

i C, Adami F, Cavallaro T, Taioli F, Ferrari S, Fabrizi G.

Department of Neurosciences, University of Padova, Via Giustiniani 5,

35128 Padova, Italy.

In up to 50% of chronic idiopathic axonal neuropathies, an underlying

diagnosis may be identified, including hereditary neuropathy. Charcot-

Marie-Tooth disease (CMT) is clinically and genetically

heterogeneous. Several mutations in the myelin protein zero (MPZ)

gene have been associated with different CMT phenotypes, including

classical demyelinating CMT1B and the axonal form of the disease.

Primary amyloidosis, a rare disease where the amyloid is formed by

the N-terminal portion of a monoclonal immunoglobulin light chain,

may be complicated by polyneuropathy. We report a patient who was

incorrectly diagnosed with amyloid neuropathy, but was found to have

axonal CMT1B only after sural nerve biopsy ruled out an acquired

amyloid neuropathy.