Format

Send to

Choose Destination
See comment in PubMed Commons below
Nat Clin Pract Neurol. 2006 Jan;2(1):45-53.

Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies.

Author information

1
Department of Psychiatry, Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA. szuchner@chg.duhs.duke.edu

Abstract

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.

PMID:
16932520
DOI:
10.1038/ncpneuro0071
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group
    Loading ...
    Support Center