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Inherited neuropathies

P F Chance1, M Reilly

  • 1Division of Neurology Research, Children's Hospital of Philadelphia, PA 19104.

Current Opinion in Neurology
|October 1, 1994
PubMed
Summary
This summary is machine-generated.

Charcot-Marie-Tooth (CMT) neuropathy encompasses demyelinating and axonal forms, often linked to genetic mutations. Understanding these genetic underpinnings is crucial for diagnosing and potentially treating these debilitating nerve disorders.

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Area of Science:

  • Neurogenetics
  • Molecular Neurology
  • Genomic Medicine

Background:

  • Charcot-Marie-Tooth (CMT) neuropathy is a diverse group of inherited peripheral nervous system disorders.
  • It is broadly classified into demyelinating (CMT1) and axonal (CMT2) forms, each with distinct genetic etiologies.
  • Specific subtypes like CMT1A, CMT1B, CMTX, and CMT2A are associated with mutations in genes such as PMP22, P0, connexin 32, and others.

Purpose of the Study:

  • To delineate the genetic heterogeneity of Charcot-Marie-Tooth neuropathy.
  • To identify the molecular defects underlying various CMT subtypes and related disorders.
  • To explore potential therapeutic avenues, such as liver transplantation for TTR-related FAP.

Main Methods:

  • Genetic linkage analysis to map disease loci to specific chromosomes.

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  • Identification of gene mutations (point mutations, duplications, deletions) in affected individuals.
  • Review of clinical presentations and molecular findings for different neuropathy types.

    • Main Results:

    • CMT1A is frequently caused by a 1.5-Mb duplication in 17p11.2-12 or PMP22 mutations.
    • CMT1B is linked to P0 gene mutations, and CMTX to connexin 32 mutations.
    • Hereditary neuropathy with liability to pressure palsies (HNPP) is associated with a reciprocal 17p11.2-12 deletion.
    • Familial amyloid polyneuropathy (FAP) is often caused by TTR gene mutations, with liver transplantation showing promise.

    Conclusions:

    • CMT neuropathy exhibits significant genetic diversity, impacting myelin or axonal integrity.
    • Specific chromosomal regions and genes are implicated in various CMT subtypes and HNPP.
    • Understanding the molecular basis of these neuropathies is essential for diagnosis and future therapeutic strategies.