Charcot-Marie-Tooth Disease: A Clinico-genetic Confrontation

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Ann Hum Genet. 2008 Jan 23

Charcot-Marie-Tooth Disease: A Clinico-genetic Confrontation.

Barisic N, Claeys KG, Sirotkoviæ-Skerlev M, Löfgren A, Nelis E, De

Jonghe P, Timmerman V.

Department of Pediatrics, Zagreb University Medical School, Zagreb,

Croatia.

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.