This Article  • References  • Full text PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

Phillip F. Chance, MD; David Pleasure, MD

Arch Neurol. 1993;50(11):1180-1184.

Abstract
Charcot-Marie-Tooth syndrome (CMT) is a group of genetically determined symmetric distal polyneuropathies. The CMT loci are known to map to chromosome 1 (CMT1B), chromosome 17 (CMT1A), the X chromosome (CMTX), and two additional unknown autosomes (CMT1C and CMT2). The most prevalent form is CMT1A, an autosomal dominant demyelinative disorder caused either by a tandem duplication in band p11.2-12 of chromosome 17 (17p11.2-12) with trisomic expression of the peripheral myelin protein-22 (PMP-22) gene or, less frequently, by a missense mutation of PMP-22. Missense mutations in PMP-22 are also responsible for two forms of demyelinative polyneuropathy in mice, trembler and trembler^J. Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant disorder characterized by recurrent focal neuropathy. In all families thus far studied, patients with HNPP have been found to be monosomic for a segment of chromosome 17P 11.2-12. The duplication in CMT1A and deletion in HNPP map to the same region in 17p11.2-12 and are both likely to be consequences of unequal crossing over during germ cell meiosis.

Author Affiliations
From the Section of Medical Genetics, Department of Pediatrics, University of Utah Medical Center, Salt Lake City (Dr Chance), and the Neurology Research Division, Children's Hospital of Philadelphia (Pa) (Dr Pleasure).

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Differential Expression of Gap Junction Proteins Connexin26, 32, and 43 in Normal and Crush-injured Rat Sciatic Nerves: Close Relationship Between Connexin43 and Occludin in the Perineurium
Nagaoka et al.
J. Histochem. Cytochem. 1999;47:937-948.
ABSTRACT | FULL TEXT  

Correlation Between the Histopathologic, Genotypic, and Phenotypic Features of Hereditary Peripheral Neuropathies in Childhood
Ouvrier
J Child Neurol 1996;11:133-146.
ABSTRACT  

An Introduction to the Molecular Genetics of Neurological Disease: Recent Advances
Rosenberg
Arch Neurol 1993;50:1123-1128.
ABSTRACT