Inherited peripheral neuropathies

Mario da Cunha Saporta, Michael E. Shy

Research output: Contribution to journalReview article

52 Citations (Scopus)

Abstract

Charcot-Marie-Tooth (CMT) disease is a heterogeneous group of inherited peripheral neuropathies in which the neuropathy is the sole or primary component of the disorder, as opposed to diseases in which the neuropathy is part of a more generalized neurologic or multisystem syndrome. Because of the great genetic heterogeneity of this condition, it can be challenging for the general neurologist to diagnose patients with specific types of CMT. This article reviews the biology of the inherited peripheral neuropathies, delineates major phenotypic features of the CMT subtypes, and suggest strategies for focusing genetic testing.

Original languageEnglish (US)
Pages (from-to)597-619
Number of pages23
JournalNeurologic Clinics
Volume31
Issue number2
DOIs
StatePublished - May 1 2013
Externally publishedYes

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Tooth
Charcot-Marie-Tooth Disease
Genetic Heterogeneity
Genetic Testing
Nervous System
Inherited Peripheral Neuropathy
Neurologists

Keywords

  • Charcot-Marie-Tooth
  • Genetic testing
  • Inherited neuropathy

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Inherited peripheral neuropathies. / da Cunha Saporta, Mario; Shy, Michael E.

In: Neurologic Clinics, Vol. 31, No. 2, 01.05.2013, p. 597-619.

Research output: Contribution to journalReview article

da Cunha Saporta, Mario ; Shy, Michael E. / Inherited peripheral neuropathies. In: Neurologic Clinics. 2013 ; Vol. 31, No. 2. pp. 597-619.
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