Charcot-marie-tooth disease (hereditary motor sensory neuropathies) and hereditary sensory and autonomic neuropathies

Tulio Bertorini, Pushpa Narayanaswami, Hani Rashed

Research output: Contribution to journalReview article

23 Citations (Scopus)

Abstract

Background: Since the description of Charcot-Marie-Tooth disease over a century ago, it is now been recognized that these conditions are not caused by generalized metabolic defects but rather have various discrete genetic origins. These disorders can also have variable phenotypes due to dysfunction of peripheral nerve axons or their myelin due to the genetic defects that affect the formation of specific nerve proteins. Review Summary: This article summarizes the clinical presentation of various phenotypes of the hereditary motor sensory neuropathies and the hereditary sensory and autonomic neuropathies, genetic mutations, and their relevant protein products. Proper identification of the genetic defects provides the opportunity for better genetic counseling and hopefully therapies in the future.

Original languageEnglish (US)
Pages (from-to)327-337
Number of pages11
JournalNeurologist
Volume10
Issue number6
DOIs
StatePublished - Nov 1 2004

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Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Motor Neuropathy
Charcot-Marie-Tooth Disease
Phenotype
Genetic Counseling
Myelin Sheath
Peripheral Nerves
Axons
Proteins
Mutation
Therapeutics

All Science Journal Classification (ASJC) codes

  • Clinical Neurology

Cite this

Charcot-marie-tooth disease (hereditary motor sensory neuropathies) and hereditary sensory and autonomic neuropathies. / Bertorini, Tulio; Narayanaswami, Pushpa; Rashed, Hani.

In: Neurologist, Vol. 10, No. 6, 01.11.2004, p. 327-337.

Research output: Contribution to journalReview article

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