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Molecular genetics of distal hereditary motor neuropathies.
Hum Mol Genet. 2004 Oct 01; 13 Spec No 2:R195-202.HM

Abstract

Inherited peripheral neuropathies comprise a wide variety of diseases primarily affecting the peripheral nervous system. The best-known peripheral neuropathy is Charcot-Marie-Tooth disease (CMT) described in 1886 by J.-M. Charcot, P. Marie and H.H. Tooth. In 1980, A.E. Harding and P.K. Thomas showed that in a large group of individuals with CMT, several only had motor abnormalities on clinical and electrophysiological examination, whereas sensory abnormalities were absent. This exclusively motor variant of CMT was designated as spinal CMT or hereditary distal spinal muscular atrophy, and included in the distal hereditary motor neuropathies (distal HMN). The distal HMN are clinically and genetically heterogeneous and are subdivided according to the mode of inheritance, age at onset and clinical evolution. Since the introduction of positional cloning, 12 chromosomal loci and seven disease-causing genes have been identified for autosomal dominant and recessive distal HMN. Most of the genes involved have housekeeping functions, as in RNA processing, translation synthesis, glycosylation, stress response, apoptosis, but also axonal trafficking and editing. Functional characterization of the mutations will help to unravel the cellular processes that underlie the specificity of motor neuropathies leading to neurogenic muscular atrophy of distal limb muscles. Here we review the recent progress of the molecular genetics of distal HMN and discuss the genes implicated.

Authors+Show Affiliations

Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

15358725

Citation

Irobi, Joy, et al. "Molecular Genetics of Distal Hereditary Motor Neuropathies." Human Molecular Genetics, vol. 13 Spec No 2, 2004, pp. R195-202.
Irobi J, De Jonghe P, Timmerman V. Molecular genetics of distal hereditary motor neuropathies. Hum Mol Genet. 2004;13 Spec No 2:R195-202.
Irobi, J., De Jonghe, P., & Timmerman, V. (2004). Molecular genetics of distal hereditary motor neuropathies. Human Molecular Genetics, 13 Spec No 2, R195-202.
Irobi J, De Jonghe P, Timmerman V. Molecular Genetics of Distal Hereditary Motor Neuropathies. Hum Mol Genet. 2004 Oct 1;13 Spec No 2:R195-202. PubMed PMID: 15358725.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular genetics of distal hereditary motor neuropathies. AU - Irobi,Joy, AU - De Jonghe,Peter, AU - Timmerman,Vincent, PY - 2004/9/11/pubmed PY - 2005/10/1/medline PY - 2004/9/11/entrez SP - R195 EP - 202 JF - Human molecular genetics JO - Hum Mol Genet VL - 13 Spec No 2 N2 - Inherited peripheral neuropathies comprise a wide variety of diseases primarily affecting the peripheral nervous system. The best-known peripheral neuropathy is Charcot-Marie-Tooth disease (CMT) described in 1886 by J.-M. Charcot, P. Marie and H.H. Tooth. In 1980, A.E. Harding and P.K. Thomas showed that in a large group of individuals with CMT, several only had motor abnormalities on clinical and electrophysiological examination, whereas sensory abnormalities were absent. This exclusively motor variant of CMT was designated as spinal CMT or hereditary distal spinal muscular atrophy, and included in the distal hereditary motor neuropathies (distal HMN). The distal HMN are clinically and genetically heterogeneous and are subdivided according to the mode of inheritance, age at onset and clinical evolution. Since the introduction of positional cloning, 12 chromosomal loci and seven disease-causing genes have been identified for autosomal dominant and recessive distal HMN. Most of the genes involved have housekeeping functions, as in RNA processing, translation synthesis, glycosylation, stress response, apoptosis, but also axonal trafficking and editing. Functional characterization of the mutations will help to unravel the cellular processes that underlie the specificity of motor neuropathies leading to neurogenic muscular atrophy of distal limb muscles. Here we review the recent progress of the molecular genetics of distal HMN and discuss the genes implicated. SN - 0964-6906 UR - https://www.unboundmedicine.com/medline/citation/15358725/Molecular_genetics_of_distal_hereditary_motor_neuropathies_ L2 - https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddh226 DB - PRIME DP - Unbound Medicine ER -