Neuropathology of CMT and related disorders

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Neuromolecular Med. 2006;8(1-2):23-42.

Neuropathology of charcot-marie-tooth and related disorders.

Schroder JM.

Department of Neuropathology, University Hospital, RWTH Aachen,

Germany.

The peripheral nervous system (PNS), with all its branches and

connections, is so complex that it is impossible to study all

components at the light or electron microscopic level in any

individual case; nevertheless, in certain diseases a simple nerve

biopsy may suffice to arrive at a precise diagnosis.

Structural changes of the PNS in neuropathies of the Charcot-Marie-

Tooth (CMT) type and related disorders comprise various components of

the PNS. These include peripheral motor, sensory, and autonomous

neurons with their axons, Schwann cells, and myelin sheaths in the

radicular and peripheral nerves as well as satellite cells in spinal

and autonomous ganglia.

Astrocytes, oligodendroglial cells, and microglial cells around motor

neurons in the anterior horn and around sensory neurons in other

areas of the spinal cord are also involved. In addition, connective

tissue elements such as endoneurial, perineurial, and epineurial

components including blood and lymph vessels play an important role.

This review focuses on the cellular components and organelles

involved, that is, myelin sheaths, axons with their micro-tubules and

neurofilaments; nuclei, mitochondria, endoplasmic reticulum, and

connective tissue including the perineurium and blood vessels.

A major role is attributed to recent progress in the pathomorphology

of various types of CMT1, 2,4, CMTX, and HMNSL, based on light and

electron microscopic findings, morphometry, teased fiber studies, and

new immunohisto-chemical results such as staining of certain periaxin

domains in CMT4F.