title: Human disorders of axon guidance.
abstract: 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.
authors.affiliation: Department of Neurology, FM Kirby Neurobiology Center, and The Manton Center for Orphan Disease Research, Children's Hospital Boston, Boston, MA 02115, USA.
authors.forename: Alicia A
authors.initials: AA
authors.lastname: Nugent
authors.forename: Adrianne L
authors.initials: AL
authors.lastname: Kolpak
authors.forename: Elizabeth C
authors.initials: EC
authors.lastname: Engle
mesh_terms: D000818:Animals; D001369:Axons / Q000473:pathology / Q000502:physiology*; D003389:Cranial Nerve Diseases / Q000235:genetics / Q000473:pathology*; D000075389:DCC Receptor; D004195:Disease Models, Animal; D006801:Humans; D009886:Ophthalmoplegia / Q000235:genetics / Q000473:pathology*; D011956:Receptors, Cell Surface / Q000235:genetics; D011971:Receptors, Immunologic / Q000235:genetics; D012600:Scoliosis / Q000235:genetics / Q000473:pathology*; D014404:Tubulin / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics; D000097905:Roundabout Proteins
chemical_list: D000075389:DCC Receptor; D011956:Receptors, Cell Surface; D011971:Receptors, Immunologic; D014404:Tubulin; D025521:Tumor Suppressor Proteins; C501909:DCC protein, human; C499630:ROBO3 protein, human; D000097905:Roundabout Proteins; C498585:TUBB3 protein, human