Clinical features and gene mutations of Chinese patients with autosomal dominant Charcot-Marie-Tooth disease

Objective To analyze the characteristics of the clinical features and the gene mutations between Chinese patients with autosomal dominant Charcot-Marie-Tooth disease.Methods The clinical manifestations,electrophysiological and pathological investigations of patients with autosomal dominant Charcot-Marie-Tooth were analyzed retrospectively.One hundred and six CMT patients underwent mutation analysis of PMP22 duplication and PMP22,MPZ,SIMPLE,EGR2,RAB7,NEFL,MFN2,Hsp27 and Hsp22.Results CMT1A was caused by PMP22 duplication,and CMT1B was caused by MPZ mutation.In those patients,the age of onset were earlier.The most frequently first symptom was weakness and atrophy in lower limbs with hypesthesia.Physical examination showed distal limb weakness and wasting,and taplipes cavus in all of them.Electromyogram and nerve conduction velocity showed slow nerve conduction.Pathological examination showed demyelination.CMT2A2 was caused by MFN2 mutation,CMT2F was caused by Hsp27 mutation,and CMT2L was caused by Hsp22 mutation.Compared with CMT1,patients of CMT2 were less frequent,the age of onset were later,motor disability was more sever than sensory aisability.Electromyogram and nerve conduction velocity was normal.Pathological examination showed axonal denaturation.Conclusions In this study,the results of the mutation screening were consistent with the clinical features.Mutation screening has the character of high accuracy,little harm and can help to diagnosis earlier,so it suggestes to be performed widely in the clinic especially to the patients who has family history or to the lineal relatives.