Charcot-Marie-Tooth disease

Gregory T. Carter, Michael D. Weiss, Jay J. Han, Phillip F. Chance, John D. England

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

The family of hereditary peripheral neuropathies that makes up Charcot-Marie-Tooth disease (CMT) comprises some of the most common neuromuscular disorders. Over the past decade, understanding of the molecular basis of CMT has increased enormously. In addition, the neurophysiologic deficits arid clinical problems associated with CMT are more clearly delineated, and the precise genetic cause of many types of CMT has now been determined. Advances in molecular biology and genetic manipulation techniques have allowed the development of animal models of some of these CMT types, allowing more productive scientific exploration of possible treatments. Recent treatment advances that have been effective in animal models include oral supplementation with curcumin and vitamin C (ascorbic acid), and the use of onapristone, a progesterone antagonist. Human trials with vitamin C are currently in progress. While ongoing molecular genetic research continues to identify more of the mutant genes and proteins that cause the various disease subtypes, clinical research should continue to focus on developing pharmaceutical and rehabilitative therapies to ameliorate nerve degeneration and ultimately improve function for patients with CMT. These patients optimally should be managed in a comprehensive, multidisciplinary setting involving neurologists, physiatrists, orthopedic surgeons, physical and occupational therapists, and orthotists. Treatment should be aimed at maximizing independence and quality of life.

Original languageEnglish (US)
Pages (from-to)94-102
Number of pages9
JournalCurrent Treatment Options in Neurology
Volume10
Issue number2
DOIs
StatePublished - Mar 2008
Externally publishedYes

Fingerprint

Charcot-Marie-Tooth Disease
Ascorbic Acid
Molecular Biology
Animal Models
Genetic Techniques
Nerve Degeneration
Genetic Research
Curcumin
Physical Therapists
Peripheral Nervous System Diseases
Mutant Proteins
Therapeutics
Progesterone
Quality of Life
Research
Pharmaceutical Preparations
Proteins

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Carter, G. T., Weiss, M. D., Han, J. J., Chance, P. F., & England, J. D. (2008). Charcot-Marie-Tooth disease. Current Treatment Options in Neurology, 10(2), 94-102. https://doi.org/10.1007/s11940-008-0011-3

Charcot-Marie-Tooth disease. / Carter, Gregory T.; Weiss, Michael D.; Han, Jay J.; Chance, Phillip F.; England, John D.

In: Current Treatment Options in Neurology, Vol. 10, No. 2, 03.2008, p. 94-102.

Research output: Contribution to journalArticle

Carter, GT, Weiss, MD, Han, JJ, Chance, PF & England, JD 2008, 'Charcot-Marie-Tooth disease', Current Treatment Options in Neurology, vol. 10, no. 2, pp. 94-102. https://doi.org/10.1007/s11940-008-0011-3
Carter GT, Weiss MD, Han JJ, Chance PF, England JD. Charcot-Marie-Tooth disease. Current Treatment Options in Neurology. 2008 Mar;10(2):94-102. https://doi.org/10.1007/s11940-008-0011-3
Carter, Gregory T. ; Weiss, Michael D. ; Han, Jay J. ; Chance, Phillip F. ; England, John D. / Charcot-Marie-Tooth disease. In: Current Treatment Options in Neurology. 2008 ; Vol. 10, No. 2. pp. 94-102.
@article{3e6db06b29ca41a09bd41a0d7fbb9bfb,
title = "Charcot-Marie-Tooth disease",
abstract = "The family of hereditary peripheral neuropathies that makes up Charcot-Marie-Tooth disease (CMT) comprises some of the most common neuromuscular disorders. Over the past decade, understanding of the molecular basis of CMT has increased enormously. In addition, the neurophysiologic deficits arid clinical problems associated with CMT are more clearly delineated, and the precise genetic cause of many types of CMT has now been determined. Advances in molecular biology and genetic manipulation techniques have allowed the development of animal models of some of these CMT types, allowing more productive scientific exploration of possible treatments. Recent treatment advances that have been effective in animal models include oral supplementation with curcumin and vitamin C (ascorbic acid), and the use of onapristone, a progesterone antagonist. Human trials with vitamin C are currently in progress. While ongoing molecular genetic research continues to identify more of the mutant genes and proteins that cause the various disease subtypes, clinical research should continue to focus on developing pharmaceutical and rehabilitative therapies to ameliorate nerve degeneration and ultimately improve function for patients with CMT. These patients optimally should be managed in a comprehensive, multidisciplinary setting involving neurologists, physiatrists, orthopedic surgeons, physical and occupational therapists, and orthotists. Treatment should be aimed at maximizing independence and quality of life.",
author = "Carter, {Gregory T.} and Weiss, {Michael D.} and Han, {Jay J.} and Chance, {Phillip F.} and England, {John D.}",
year = "2008",
month = "3",
doi = "10.1007/s11940-008-0011-3",
language = "English (US)",
volume = "10",
pages = "94--102",
journal = "Current Treatment Options in Neurology",
issn = "1092-8480",
publisher = "Current Science, Inc.",
number = "2",

}

TY - JOUR

T1 - Charcot-Marie-Tooth disease

AU - Carter, Gregory T.

AU - Weiss, Michael D.

AU - Han, Jay J.

AU - Chance, Phillip F.

AU - England, John D.

PY - 2008/3

Y1 - 2008/3

N2 - The family of hereditary peripheral neuropathies that makes up Charcot-Marie-Tooth disease (CMT) comprises some of the most common neuromuscular disorders. Over the past decade, understanding of the molecular basis of CMT has increased enormously. In addition, the neurophysiologic deficits arid clinical problems associated with CMT are more clearly delineated, and the precise genetic cause of many types of CMT has now been determined. Advances in molecular biology and genetic manipulation techniques have allowed the development of animal models of some of these CMT types, allowing more productive scientific exploration of possible treatments. Recent treatment advances that have been effective in animal models include oral supplementation with curcumin and vitamin C (ascorbic acid), and the use of onapristone, a progesterone antagonist. Human trials with vitamin C are currently in progress. While ongoing molecular genetic research continues to identify more of the mutant genes and proteins that cause the various disease subtypes, clinical research should continue to focus on developing pharmaceutical and rehabilitative therapies to ameliorate nerve degeneration and ultimately improve function for patients with CMT. These patients optimally should be managed in a comprehensive, multidisciplinary setting involving neurologists, physiatrists, orthopedic surgeons, physical and occupational therapists, and orthotists. Treatment should be aimed at maximizing independence and quality of life.

AB - The family of hereditary peripheral neuropathies that makes up Charcot-Marie-Tooth disease (CMT) comprises some of the most common neuromuscular disorders. Over the past decade, understanding of the molecular basis of CMT has increased enormously. In addition, the neurophysiologic deficits arid clinical problems associated with CMT are more clearly delineated, and the precise genetic cause of many types of CMT has now been determined. Advances in molecular biology and genetic manipulation techniques have allowed the development of animal models of some of these CMT types, allowing more productive scientific exploration of possible treatments. Recent treatment advances that have been effective in animal models include oral supplementation with curcumin and vitamin C (ascorbic acid), and the use of onapristone, a progesterone antagonist. Human trials with vitamin C are currently in progress. While ongoing molecular genetic research continues to identify more of the mutant genes and proteins that cause the various disease subtypes, clinical research should continue to focus on developing pharmaceutical and rehabilitative therapies to ameliorate nerve degeneration and ultimately improve function for patients with CMT. These patients optimally should be managed in a comprehensive, multidisciplinary setting involving neurologists, physiatrists, orthopedic surgeons, physical and occupational therapists, and orthotists. Treatment should be aimed at maximizing independence and quality of life.

UR - http://www.scopus.com/inward/record.url?scp=41549143889&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=41549143889&partnerID=8YFLogxK

U2 - 10.1007/s11940-008-0011-3

DO - 10.1007/s11940-008-0011-3

M3 - Article

C2 - 18334132

AN - SCOPUS:41549143889

VL - 10

SP - 94

EP - 102

JO - Current Treatment Options in Neurology

JF - Current Treatment Options in Neurology

SN - 1092-8480

IS - 2

ER -