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CMT with pyramidal features. Charcot-Marie-Tooth.

S Vucic1, M Kennerson, D Zhu

  • 1University of Sydney, Neurobiology Laboratory, ANZAC Research Institute, Concord Hospital, NSW, Australia.

Neurology
|February 26, 2003
PubMed
Summary

Researchers investigated Charcot-Marie-Tooth (CMT) with pyramidal signs. Genetic analysis excluded known dominant axonal neuropathy genes, suggesting a distinct genetic cause for this CMT subtype.

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Area of Science:

  • Neurogenetics
  • Neuromuscular Disorders
  • Clinical Neurology

Background:

  • Charcot-Marie-Tooth (CMT) encompasses a group of inherited peripheral neuropathies.
  • Axonal CMT subtypes are genetically heterogeneous, with several loci and genes identified.
  • The presence of pyramidal signs in CMT can complicate diagnosis and genetic classification.

Purpose of the Study:

  • To ascertain if CMT with pyramidal features represents a genetically distinct entity.
  • To investigate chromosomal loci and genes associated with dominantly inherited axonal CMT.
  • To differentiate this CMT phenotype from other known axonal neuropathies.

Main Methods:

  • Examination of chromosomal loci and genes implicated in axonal Charcot-Marie-Tooth.
  • Clinical assessment of two families presenting with axonal CMT and mild pyramidal signs.

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  • Linkage analysis to exclude known CMT2, ALS4, and HMN2 loci.
  • Mutation screening of candidate genes including PMP22, MPZ/Po, and EGR2.

    • Main Results:

    • Two families exhibited an axonal CMT phenotype characterized by distal wasting, weakness, pes cavus, sensory loss, and mild pyramidal signs.
    • Linkage studies successfully excluded established loci for CMT2A, 2B, 2D, 2E, 2F, ALS4, and HMN2.
    • No pathogenic mutations were detected in the screened PMP22, MPZ/Po, or EGR2 genes.

    Conclusions:

    • The findings suggest that Charcot-Marie-Tooth with pyramidal features may be genetically distinct from previously characterized dominantly inherited axonal neuropathies.
    • Further genetic investigations are warranted to identify the specific genetic cause(s) of this CMT subtype.
    • This research contributes to the understanding of the genetic basis of complex inherited neuropathies.