title: Recent advances in the genetics of hereditary axonal sensory-motor neuropathies type 2.
abstract: Hereditary axonal motor and sensory neuropathies or Charcot-Marie-Tooth disease type 2 (CMT2) are characterized clinically by distal muscle weakness and atrophy, sensory loss, and foot deformities. Conduction velocities are usually in the normal range or mildly slowed. The majority of CMT2 are autosomal-dominant but autosomal-recessive forms have been described. The number of genes associated with CMT2 have significantly increased in the past decade, with the gene causing CMT2C/SPSMA being the last one discovered. More than 10 genes are now associated with different subtypes of CMT2, which are classified from CMT2A to CMT2N. These genes have distinct functions, but some appear to be involved in common biological pathways, therefore, providing important clues for understanding the pathogenic mechanism of these heterogeneous disorders.
authors.affiliation: Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine, Tarry Building, Room 13-715, 303 East Chicago Avenue, Chicago, IL 60611, USA. s-ajroud@md.northwestern.edu
authors.forename: Senda
authors.initials: S
authors.lastname: Ajroud-Driss
authors.forename: Han-Xiang
authors.initials: HX
authors.lastname: Deng
authors.forename: Teepu
authors.initials: T
authors.lastname: Siddique
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D008040:Genetic Linkage; D009477:Hereditary Sensory and Autonomic Neuropathies / Q000235:genetics*; D006801:Humans; D010641:Phenotype