CMT Type 2 Mechanisms of Disease a molecular genetic update on hereditary axonal

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Nat Clin Pract Neurol. 2006 Jan;2(1):45-53.

Mechanisms of Disease: a molecular genetic update on hereditary

axonal neuropathies.

Zuchner S, Vance JM.

S Zuchner is an assistant professor in the Department of Psychiatry

and JM Vance is a professor of medicine and Associate Director at the

Center for Human Genetics, Duke University Medical Center, Durham,

NC, USA.

Hereditary axonal peripheral neuropathies comprise a genetically

heterogeneous group of disorders that are clinically subsumed under

the name of Charcot-Marie-Tooth (CMT) disease type 2 (CMT2).

Historically, two classes of CMT have been differentiated:

demyelinating forms of CMT (CMT1), in which nerve conduction

velocities are decreased, and the axonal CMT2 forms, in which nerve

conduction velocities are preserved.

Recently, a number of genes that are defective in patients with the

main forms of CMT2 have been identified. The molecular dissection of

cellular functions of the related gene products has only just begun,

and detailed pathophysiological models are still lacking. The known

CMT2-related genes represent key players in these pathways, however,

and are likely to provide powerful tools for identifying targets for

future therapeutic intervention.