Charcot-Marie-Tooth syndrome

P. F. Chance, David E Pleasure

Research output: Contribution to journalArticle

38 Citations (Scopus)

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. 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 17p11.2-12. 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.

Original languageEnglish (US)
Pages (from-to)1180-1184
Number of pages5
JournalArchives of Neurology
Volume50
Issue number11
StatePublished - 1993
Externally publishedYes

Fingerprint

Myelin Proteins
Charcot-Marie-Tooth Disease
Chromosomes, Human, Pair 17
Polyneuropathies
Missense Mutation
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 1
Meiosis
X Chromosome
Germ Cells
Genes
Syndrome
Teeth
Chromosome
Protein

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Charcot-Marie-Tooth syndrome. / Chance, P. F.; Pleasure, David E.

In: Archives of Neurology, Vol. 50, No. 11, 1993, p. 1180-1184.

Research output: Contribution to journalArticle

Chance, PF & Pleasure, DE 1993, 'Charcot-Marie-Tooth syndrome', Archives of Neurology, vol. 50, no. 11, pp. 1180-1184.
Chance, P. F. ; Pleasure, David E. / Charcot-Marie-Tooth syndrome. In: Archives of Neurology. 1993 ; Vol. 50, No. 11. pp. 1180-1184.
@article{971d3437c0eb4d4287a18ba324e4c1ce,
title = "Charcot-Marie-Tooth syndrome",
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. 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 17p11.2-12. 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 = "Chance, {P. F.} and Pleasure, {David E}",
year = "1993",
language = "English (US)",
volume = "50",
pages = "1180--1184",
journal = "Archives of Neurology",
issn = "0003-9942",
publisher = "American Medical Association",
number = "11",

}

TY - JOUR

T1 - Charcot-Marie-Tooth syndrome

AU - Chance, P. F.

AU - Pleasure, David E

PY - 1993

Y1 - 1993

N2 - 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. 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 17p11.2-12. 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.

AB - 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. 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 17p11.2-12. 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.

UR - http://www.scopus.com/inward/record.url?scp=0027368859&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0027368859&partnerID=8YFLogxK

M3 - Article

C2 - 8215977

AN - SCOPUS:0027368859

VL - 50

SP - 1180

EP - 1184

JO - Archives of Neurology

JF - Archives of Neurology

SN - 0003-9942

IS - 11

ER -