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Axonal neuropathy due to myelin protein zero mutation misdiagnosed as amyloid neuropathy
Author(s) -
Briani Chiara,
Adami Fausto,
Cavallaro Tiziana,
Taioli Federica,
Ferrari Sergio,
Fabrizi Gianmaria
Publication year - 2008
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21062
Subject(s) - myelin , mutation , amyloid (mycology) , medicine , peripheral neuropathy , amyloid β , pathology , amyloidosis , neuroscience , endocrinology , biology , genetics , gene , disease , central nervous system , diabetes mellitus
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. Muscle Nerve 38: 921–923, 2008