[Charcot-Marie-Tooth disorders: past, today and tomorrow].
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.
Kochański
Andrzej
A
Zespół Badawczo-Leczniczy Chorób Nerwowo-Mieśniowych, Instytut Medycyny Doświadczalnej i Klinicznej im. M. Mossakowskiego, Polska Akademia Nauk, ul. A. Pawińskiego 5, 02-106 Warszawa. neurmyol@cmdik.pan.pl
D002607:Charcot-Marie-Tooth Disease / Q000145:classification* / Q000235:genetics*; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D005826:Genetics, Medical / Q000379:methods*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D009185:Myelin Proteins / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D016900:Neurofilament Proteins / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics
D009185:Myelin Proteins; D009419:Nerve Tissue Proteins; D016900:Neurofilament Proteins; D009687:Nuclear Proteins