Abstract

Inherited neuropathies are caused by dominant or recessive mutations in genes that are expressed by neurons and/or Schwann cells. In demyelinating neuropathies, the deleterious effects originate primarily in myelinating Schwann cells. In axonal neuropathies, neurons (axons) are initially affected. In demyelinating neuropathies, the axonal cytoskeleton is altered and axonal transport is disrupted. In some axonal neuropathies, genes that are directly involved in axonal transport are mutated. So, a common consequence of inherited neuropathies is disruption of the ability of neurons to transport cargo efficiently along the entire length of their axons. These findings correlate with the observations that axonal atrophy and/or loss are primarily responsible for the clinical disability in hereditary neuropathies.

Author affiliations

1. Institute of Cell Biology, Swiss Federal Institute of Technology Zürich, ETH-Hönggerberg, CH-8093 Zürich, Switzerland.
2. The University of Pennsylvania Medical Center, Room 460 Stemmler Hall, 36th Street and Hamilton Walk, Philadelphia, Pennsylvania 19104-6077, USA.

Correspondence to: Ueli Suter¹ Email: usuter@cell.biol.ethz.ch