Which histologic findings are characteristic of Charcot-Marie-Tooth type 1 (CMT1)?

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

Dyck and Lambert observed an abnormally large transverse fascicular area in biopsied nerves, but a reduction in the number of myelinated fibers both per unit of fascicular area and per nerve. Large onion bulbs were seen, and there was marked variation in length and diameter of myelinated fiber internodes on teased fiber preparations, indicating chronic demyelination and remyelination. There was additional evidence of Wallerian degeneration in some nerve fibers, indicating concurrent axonal injury. [4]


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