Naslov
Charcot-Marie-Tooth disease: a clinico-genetic confrontation

Autori
Barišić, Nina ; Claeys, K.G. ; Sirotković-Skerlev Maja ; Loefgren, A. ; Nelis, Eva ; De Jonghe, P. ; Timmerman, Vincent

Izvornik
Annals of human genetics (0003-4800) 72 (2008), 3; 416-441

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, pregledni rad, znanstveni

Ključne riječi
Charcot-Marie-Tooth disease; Genetics; Clinico-Genetic confrontation

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA