CHARCOT-MARIE-TOOTH DISEASE

  • Lea Leonardis KO Inštitut za klinično nevrofiziologijo Klinični center Zaloška 7 1525 Ljubljana
  • Janez Zidar KO Inštitut za klinično nevrofiziologijo Klinični center Zaloška 7 1525 Ljubljana
  • Borut Peterlin Laboratorij za molekularno genetiko Ginekološka klinika Klinični center Šlajmerjeva 3 1525 Ljubljana
Keywords: hereditary diseases, molecular genetic tests, neuronopathies, polyneuropathies

Abstract

Background. Charcot-Marie-Tooth (CMT) disease is a common inherited disorder of the peripheral nervous system. In our paper, different types of CMT are described with their typical clinical pictures, electrophysiological signs and molecular genetic studies. CMT is classified as demyelinative and axonal type and distal motor neuronopathy.

Conclusions. CMT can be of autosomal dominant, recessive and X-linked inheritance. The most frequent form of CMT is the result of the dominantly inherited duplication of chromosome 17p11.2 and is marked as CMT1A. The same group involves also rare patients with point mutation in the peripheral myelin protein-22 gene. CMT1B is associated with point mutations in protein zero gene. CMT1C is linked to chromosome 16p13.1–12.3. Patients with point mutations in early growth response 2 gene (EGR2) are included in group CMT1D. The disease can be also inhereted X-linked (CMTX) with the mutations in connexin-32 gene. In autosomal recessive inherited demyelinating polyneuropathies (CMT4), mutations are found in the myotubularin-related protein-2 (CMT4B), N-myc downstream-regulated gene 1 (CMT4D), EGR2 (CMT4E), and in the periaksin (CMT4F) genes. In axonal inherited neuropathy, mutations are found in KIF1beta (CMT2A) and in light neurofilament (CMT2E) genes, other forms map to different chromosomal loci (CMT2B, CMT2D, CMT2F). Some suggestions for the diagnostic procedures of patients with CMT are given.

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How to Cite
1.
Leonardis L, Zidar J, Peterlin B. CHARCOT-MARIE-TOOTH DISEASE. ZdravVestn [Internet]. 1 [cited 26Mar.2019];72(9). Available from: https://vestnik.szd.si/index.php/ZdravVest/article/view/1870
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