Charcot-Marie-Tooth disorders: past, today and tomorrow

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Neurol Neurochir Pol. 2006 Jul-Aug;40(4):327-35.

Charcot-Marie-Tooth disorders: past, today and tomorrow

Kochanski A.

Zespol Badawczo-Leczniczy Chorob Nerwowo-Miesniowych, Instytut

Medycyny Doswiadczalnej i Klinicznej im. M. Mossakowskiego, Polska

Akademia Nauk, ul. A. Pawinskiego 5, 02-106 Warsaw

Both intra - and interfamiliar variability of the clinical course of

Charcot-Marie-Tooth disorders (CMT) were reported in the descriptions

of the CMT disease in the 19th century. In the 1950s, it was shown

that CMT disorders may be classified into two main groups i.e. CMT 1

and 2 on the basis of motor nerve conduction velocity in the motor

fibers of the median nerve (MNCV=38 m/s).

With the neuropathological studies in the 1960s, especially electron

microscopy, a further enrichment of CMT classification was possible

(hypomyelinating neuropathy, CMT with focally folded myelin). Thus,

CMT classification based on EMG and neuropathological studies created

an enormous opportunity to develop molecular genetics studies in CMT.

Since early 1980s up to date, molecular genetic studies in CMT

disorders resulted in a discovery of 30 genes. The new forms have

been added to CMT classification on the basis of molecular DNA

studies. In the " DNA era " in CMT genetic counseling in this group of

disorders may be offered to the patients. Due to a possibility of

delineating CMT patients on the basis of " genetic background " ,

myological semiology and diagnostics may be improved.

The access, costs and range of molecular DNA studies are still

limited in CMT disorders. It seems possible that in the near future

microarray DNA technology may revolutionize CMT diagnostics. The

question whether and when gene therapy will be available in CMT

remains to be answered, similar to other disorders with a genetic

background.