Current Neurology and Neuroscience Reports

, Volume 11, Issue 3, pp 262–273

Recent Advances in the Genetics of Hereditary Axonal Sensory-Motor Neuropathies Type 2

  • Senda Ajroud-Driss
  • Han-Xiang Deng
  • Teepu Siddique
Article

DOI: 10.1007/s11910-011-0185-z

Cite this article as:
Ajroud-Driss, S., Deng, H. & Siddique, T. Curr Neurol Neurosci Rep (2011) 11: 262. doi:10.1007/s11910-011-0185-z

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.

Keywords

Axonal CMTCMT2HSMNCMT2A1CMT2A2CMT2BCMT2CCMT2DCMTFCMT2GCMTHCMT2ICMT2JCMT2KCMT2LCMT2MCMT2NCMT2B1CMT2B2Mitochondrial dynamicEndosomal traffickingAxonal transportRNA processing

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Senda Ajroud-Driss
    • 1
    • 2
  • Han-Xiang Deng
    • 1
    • 3
  • Teepu Siddique
    • 1
    • 4
    • 5
  1. 1.Division of Neuromuscular Medicine, Davee Department of Neurology and Clinical NeurosciencesNorthwestern University Feinberg School of MedicineChicagoUSA
  2. 2.ChicagoUSA
  3. 3.Davee Department of Neurology and Clinical NeurosciencesNorthwestern University Feinberg School of MedicineChicagoUSA
  4. 4.Les Turner ALS Foundation/Herbert C. Wenske, Davee Department of Neurology and Clinical NeurosciencesNorthwestern University Feinberg School of MedicineChicagoUSA
  5. 5.Department of Cell and Molecular Biology, Davee Department of Neurology and Clinical NeurosciencesNorthwestern University Feinberg School of MedicineChicagoUSA