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[From gene to disease; Charcot-Marie-Tooth disease or the hereditary motor and sensory neuropathies].
Ned Tijdschr Geneeskd. 2005 Jul 02; 149(27):1505-9.NT

Abstract

Charcot-Marie-Tooth disease is a clinically and genetically heterogeneous group of inherited neuropathies. The common clinical symptoms include distal muscle weakness, wasting and impaired distal sensation, more in the legs than in the arms, and reduced or absent reflexes. Moreover, foot and hand deformities are often encountered. A distinction between a primarily demyelinating or axonal neuropathy is often possible by means of nerve conduction studies. The major groups of inheritance are the autosomal dominant CMT1 (demyelinating), CMT2 (axonal) and the X-linked type (CMTX), but there are also autosomal recessive demyelinating (CMT4) and axonal (AR-CMT2) forms. The number of genes and loci is steadily increasing, with genes encoding proteins involved in myelin maintenance and axonal function, but also with genes encoding proteins, the function of which in peripheral nerve maintenance is notyet clear. Despite the increase in the number of known genes, especially for CMT2, there are many patients in whom no mutation can yet be found.

Authors+Show Affiliations

Afd. Neurologie, Academisch Medisch Centrum/Universiteit van Amsterdam, Postbus 22.660, 1100 DD Amsterdam.No affiliation info available

Pub Type(s)

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

Language

dut

PubMed ID

16032995

Citation

Verhamme, C, and F Baas. "[From Gene to Disease; Charcot-Marie-Tooth Disease or the Hereditary Motor and Sensory Neuropathies]." Nederlands Tijdschrift Voor Geneeskunde, vol. 149, no. 27, 2005, pp. 1505-9.
Verhamme C, Baas F. [From gene to disease; Charcot-Marie-Tooth disease or the hereditary motor and sensory neuropathies]. Ned Tijdschr Geneeskd. 2005;149(27):1505-9.
Verhamme, C., & Baas, F. (2005). [From gene to disease; Charcot-Marie-Tooth disease or the hereditary motor and sensory neuropathies]. Nederlands Tijdschrift Voor Geneeskunde, 149(27), 1505-9.
Verhamme C, Baas F. [From Gene to Disease; Charcot-Marie-Tooth Disease or the Hereditary Motor and Sensory Neuropathies]. Ned Tijdschr Geneeskd. 2005 Jul 2;149(27):1505-9. PubMed PMID: 16032995.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [From gene to disease; Charcot-Marie-Tooth disease or the hereditary motor and sensory neuropathies]. AU - Verhamme,C, AU - Baas,F, PY - 2005/7/22/pubmed PY - 2005/9/9/medline PY - 2005/7/22/entrez SP - 1505 EP - 9 JF - Nederlands tijdschrift voor geneeskunde JO - Ned Tijdschr Geneeskd VL - 149 IS - 27 N2 - Charcot-Marie-Tooth disease is a clinically and genetically heterogeneous group of inherited neuropathies. The common clinical symptoms include distal muscle weakness, wasting and impaired distal sensation, more in the legs than in the arms, and reduced or absent reflexes. Moreover, foot and hand deformities are often encountered. A distinction between a primarily demyelinating or axonal neuropathy is often possible by means of nerve conduction studies. The major groups of inheritance are the autosomal dominant CMT1 (demyelinating), CMT2 (axonal) and the X-linked type (CMTX), but there are also autosomal recessive demyelinating (CMT4) and axonal (AR-CMT2) forms. The number of genes and loci is steadily increasing, with genes encoding proteins involved in myelin maintenance and axonal function, but also with genes encoding proteins, the function of which in peripheral nerve maintenance is notyet clear. Despite the increase in the number of known genes, especially for CMT2, there are many patients in whom no mutation can yet be found. SN - 0028-2162 UR - https://www.unboundmedicine.com/medline/citation/16032995/[From_gene_to_disease L2 - http://www.diseaseinfosearch.org/result/1276 DB - PRIME DP - Unbound Medicine ER -