CHARCOT-MARIE-TOOTH DISEASE
<p>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 demyelinativ...
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Slovenian Medical Association
2003-09-01
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doaj-036eef8ce78740ad9e48e1d8d3c63b482020-11-24T23:47:49ZengSlovenian Medical AssociationZdravniški Vestnik1318-03471581-02242003-09-017291376CHARCOT-MARIE-TOOTH DISEASELea Leonardis0Janez Zidar1Borut Peterlin2KO Inštitut za klinično nevrofiziologijo Klinični center Zaloška 7 1525 LjubljanaKO Inštitut za klinično nevrofiziologijo Klinični center Zaloška 7 1525 LjubljanaLaboratorij za molekularno genetiko Ginekološka klinika Klinični center Šlajmerjeva 3 1525 Ljubljana<p>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.</p><p>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.<br /><br /></p>http://vestnik.szd.si/index.php/ZdravVest/article/view/1870hereditary diseasesmolecular genetic testsneuronopathiespolyneuropathies |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Lea Leonardis Janez Zidar Borut Peterlin |
spellingShingle |
Lea Leonardis Janez Zidar Borut Peterlin CHARCOT-MARIE-TOOTH DISEASE Zdravniški Vestnik hereditary diseases molecular genetic tests neuronopathies polyneuropathies |
author_facet |
Lea Leonardis Janez Zidar Borut Peterlin |
author_sort |
Lea Leonardis |
title |
CHARCOT-MARIE-TOOTH DISEASE |
title_short |
CHARCOT-MARIE-TOOTH DISEASE |
title_full |
CHARCOT-MARIE-TOOTH DISEASE |
title_fullStr |
CHARCOT-MARIE-TOOTH DISEASE |
title_full_unstemmed |
CHARCOT-MARIE-TOOTH DISEASE |
title_sort |
charcot-marie-tooth disease |
publisher |
Slovenian Medical Association |
series |
Zdravniški Vestnik |
issn |
1318-0347 1581-0224 |
publishDate |
2003-09-01 |
description |
<p>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.</p><p>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.<br /><br /></p> |
topic |
hereditary diseases molecular genetic tests neuronopathies polyneuropathies |
url |
http://vestnik.szd.si/index.php/ZdravVest/article/view/1870 |
work_keys_str_mv |
AT lealeonardis charcotmarietoothdisease AT janezzidar charcotmarietoothdisease AT borutpeterlin charcotmarietoothdisease |
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