(CMT 2C) Recent Advances in the Genetics of Hereditary Axonal Sensory-Motor Neu

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Curr Neurol Neurosci Rep. 2011 Feb 16. [Epub ahead of print]

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

Type 2.

Ajroud-Driss S, Deng HX, Siddique T.

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

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.

PMID: 21327736 [PubMed - as supplied by publisher]