Studio clinico ed elettrofisiologico di una famiglia affetta da malattia di Charcot-Marie-Tooth tipo 1A con ampia variabilità fenotipica

During an epidemiological, clinical and genetical study of hereditary polyneuropathies in the region of Molise (Italy), we observed a large family affected by Charcot-Marie-Tooth disease type 1A of wich we describe the clinical phenotype. Affected subjects underwent genetical and electrophysiological analyses to ascertain the presence of duplication into the chromosomal band 17p11.2 and to evaluate sensitive and motor nerve conduction velocities. The results showed a highly variable clinical expression even in the presence of the same genetic defect and electrophysiological alterations. We hypotesize that such variability in clinical phenotype could be due to exogenous or additional genetic factors.