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Review
. 2011 Feb;11(1):78-88.
doi: 10.1007/s11910-010-0158-7.

Update on Charcot-Marie-Tooth disease

Agnes Patzkó  1 , Michael E Shy
Affiliations
Review

Update on Charcot-Marie-Tooth disease

Agnes Patzkó et al. Curr Neurol Neurosci Rep. 2011 Feb.

Abstract

Charcot-Marie-Tooth disease (CMT) disease encompasses a genetically heterogeneous group of inherited neuropathies, also known as hereditary motor and sensory neuropathies. CMT results from mutations in more than 40 genes expressed in Schwann cells and neurons causing overlapping phenotypes. The classic CMT phenotype reflects length-dependent axonal degeneration characterized by distal sensory loss and weakness, deep tendon reflex abnormalities, and skeletal deformities. Recent articles have provided insight into the molecular pathogenesis of CMT, which, for the first time, suggest potential therapeutic targets. Although there are currently no effective medications for CMT, multiple clinical trials are ongoing or being planned. This review will focus on the underlying pathomechanisms and diagnostic approaches of CMT and discuss the emerging therapeutic strategies.

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Figures

Fig. 1
Fig. 1
Shows proteins that are mutated in Charcot-Marie-Tooth (CMT) disease. Proteins have been assigned to Schwann cell and/or neuron organelles, and intracellular pathways involved in CMT are depicted. ER—endoplasmic reticulum
See this image and copyright information in PMC

References

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