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Charcot‐Marie‐Tooth Disease: A Clinico‐genetic Confrontation
Author(s) -
Barisic N.,
Claeys K. G.,
SirotkovićSkerlev M.,
Löfgren A.,
Nelis E.,
De Jonghe P.,
Timmerman V.
Publication year - 2008
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.2007.00412.x
Subject(s) - disease , phenotype , genetic heterogeneity , neuroscience , tooth disease , biology , gene , molecular genetics , clinical phenotype , pathophysiology , nervous system , bioinformatics , genetics , medicine , pathology
Summary Charcot‐Marie‐Tooth disease (CMT) is the most common neuromuscular disorder. It represents a group of clinically and genetically heterogeneous inherited neuropathies. Here, we review the results of molecular genetic investigations and the clinical and neurophysiological features of the different CMT subtypes. The products of genes associated with CMT phenotypes are important for the neuronal structure maintenance, axonal transport, nerve signal transduction and functions related to the cellular integrity. Identifying the molecular basis of CMT and studying the relevant genes and their functions is important to understand the pathophysiological mechanisms of these neurodegenerative disorders , and the processes involved in the normal development and function of the peripheral nervous system. The results of molecular genetic investigations have impact on the appropriate diagnosis, genetic counselling and possible new therapeutic options for CMT patients.