Which histologic findings are characteristic of Charcot-Marie-Tooth type 1A (CMT1A)?

Updated: May 22, 2018
  • Author: Timothy C Parsons, MD; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Answer

Sural nerve biopsies in patients with confirmed PMP22 duplications show nerve thickening and a reduction in myelinated fiber density even in the first year of life. As the first few years pass, active demyelination is prominent and onion bulbs are infrequent. By late childhood, active demyelination subsides and well-formed onion bulbs appear. There is loss of large fibers and a relative increase in small fibers as a result of regeneration of damaged axons. [90]


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