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Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies.
Nat Clin Pract Neurol. 2006 Jan; 2(1):45-53.NC

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.

Authors+Show Affiliations

Department of Psychiatry, Center for Human Genetics, Duke University Medical Center, Durham, NC 27710, USA. szuchner@chg.duhs.duke.eduNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

16932520

Citation

Züchner, Stephan, and Jeffery M. Vance. "Mechanisms of Disease: a Molecular Genetic Update On Hereditary Axonal Neuropathies." Nature Clinical Practice. Neurology, vol. 2, no. 1, 2006, pp. 45-53.
Züchner S, Vance JM. Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies. Nat Clin Pract Neurol. 2006;2(1):45-53.
Züchner, S., & Vance, J. M. (2006). Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies. Nature Clinical Practice. Neurology, 2(1), 45-53.
Züchner S, Vance JM. Mechanisms of Disease: a Molecular Genetic Update On Hereditary Axonal Neuropathies. Nat Clin Pract Neurol. 2006;2(1):45-53. PubMed PMID: 16932520.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mechanisms of disease: a molecular genetic update on hereditary axonal neuropathies. AU - Züchner,Stephan, AU - Vance,Jeffery M, PY - 2005/06/21/received PY - 2005/10/11/accepted PY - 2006/8/26/pubmed PY - 2006/9/29/medline PY - 2006/8/26/entrez SP - 45 EP - 53 JF - Nature clinical practice. Neurology JO - Nat Clin Pract Neurol VL - 2 IS - 1 N2 - 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. SN - 1745-834X UR - https://www.unboundmedicine.com/medline/citation/16932520/Mechanisms_of_disease:_a_molecular_genetic_update_on_hereditary_axonal_neuropathies_ L2 - http://ovidsp.ovid.com/ovidweb.cgi?T=JS&PAGE=linkout&SEARCH=16932520.ui DB - PRIME DP - Unbound Medicine ER -