Human disorders of axon guidance.

Alicia A Nugent, Adrianne L Kolpak, Elizabeth C Engle

Department of Neurology, FM Kirby Neurobiology Center, and The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, MA 02115, USA.

Current opinion in neurobiology 2012 Oct

filter terms:

Axon pathfinding is essential for the establishment of proper neuronal connections during development. Advances in neuroimaging and genomic technologies, coupled with animal modeling, are leading to the identification of an increasing number of human disorders that result from aberrant axonal wiring. In this review, we summarize the recent clinical, genetic and molecular advances with regard to three human disorders of axon guidance: Horizontal gaze palsy with progressive scoliosis, Congenital mirror movements, and Congenital fibrosis of the extraocular muscles, Type III. Copyright © 2012 Elsevier Ltd. All rights reserved.