Clinical, electrophysiological and genetic features in a family with Charcot-Marie-Tooth disease type 1D
10.3760/cma.j.issn.1006-7876.2015.10.013
- VernacularTitle:腓骨肌萎缩症1D一家系的临床、电生理和基因研究
- Author:
Bin CHEN
;
Zaiqiang ZHANG
;
Na CHEN
;
Chun ZHAO
;
Songtao NIU
- Publication Type:Journal Article
- Keywords:
Charcot-Marie-Tooth disease;
Pedigree;
Early growth response protein 2;
Evoked potentials,auditory,brain stem;
High-throughput nucleotide sequencing
- From:
Chinese Journal of Neurology
2015;48(10):882-886
- CountryChina
- Language:Chinese
-
Abstract:
Objective To report the clinical,electrophysiological and genetic features in a family with Charcot-Marie-Tooth disease type 1D (CMT1 D).Methods The proband,a 53-year-old man who was found with pes cavus when he was 15 years old,presented with weakness in both lower limbs at the age of 37,aggravated and numbness in legs at the age of 50.His daughter was confirmed pes cavus in her teens and weakness in both lower limbs at the age of 18.Electrophysiology and next generation sequencing were performed in the proband.Results Electrophysiological results of the proband showed demyelinating change in motor and sensory nerves.Latency prolongation was found in bilateral waves Ⅲ,V and abnormal differentiation in bilateral waves Ⅰ of brainstem auditory evoked potential,while both interpeak latencics of Ⅲ-Ⅴ were normal.DNA analysis revealed a heterozygous 1141C ＞ T mutation in exon 1 of early growth response 2 (EGR2) gene in both of the proband and his daughter.Conclusions The onset age of Arg381Cys mutation in EGR2 gene could be at juvenile with weakness in both lower limbs.The phenotype of CMT1D is mild and progressive slowly.
