Article

Current Neurology and Neuroscience Reports

, Volume 11, Issue 3, pp 262-273

First online:

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

  • Senda Ajroud-DrissAffiliated withDivision of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine Email author 
  • , Han-Xiang DengAffiliated withDivision of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of MedicineDavee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine
  • , Teepu SiddiqueAffiliated withDivision of Neuromuscular Medicine, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of MedicineLes Turner ALS Foundation/Herbert C. Wenske, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of MedicineDepartment of Cell and Molecular Biology, Davee Department of Neurology and Clinical Neurosciences, Northwestern University Feinberg School of Medicine

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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 CMT CMT2 HSMN CMT2A1 CMT2A2 CMT2B CMT2C CMT2D CMTF CMT2G CMTH CMT2I CMT2J CMT2K CMT2L CMT2M CMT2N CMT2B1 CMT2B2 Mitochondrial dynamic Endosomal trafficking Axonal transport RNA processing