Transient white matter lesions in X-linked Charcot-Marie-Tooth disease type 1 with novel I20T mutation of gap junction protein beta 1 gene
10.3760/cma.j.issn.1006-7876.2009.04.007
- VernacularTitle:缝隙连接蛋白B1基因I20T新突变导致伴有短暂性脑白质损害的X连锁Charcot-Marie-Tooth病1型
- Author:
Xinghua LUAN
;
Bin CHEN
;
Riliang ZHENG
;
Wei ZHANG
;
Zhaoxia WANG
;
Yun YUAN
- Publication Type:Journal Article
- Keywords:
Charcot-Maxie-Tcoth disease;
Pedigree;
Coanexins;
Mutation
- From:
Chinese Journal of Neurology
2009;42(4):241-244
- CountryChina
- Language:Chinese
-
Abstract:
Objective To describe the clinical, radiological and genetic features in a family with X-linked Charot-Marie-Tooth disease type 1 (CMT1X) with transient white matter lesions.Methods The proband is a 14-year-old boy who presented transient and recurrent dysarthria, mild numbness and weakness of the limbs for 2 years and 5 months.Later he developed leg weakness.His mother only presented pes cavus.MRI, electrophysiology and nerve biopsy were performed in the proband.Gap junction protein beta 1 (GJB1) gene was analyzed by PCR-sequencing on the proband, his parents and 50 non-illness control women.Results Electremyography showed marked reduced amplitude of the distal compound muscle action potentials and mild decrease of conduction velocities.MRI showed bilateral white matter lesions in centrum semiovale and corpus callnsum, which improved significantly after 6 months.Pathological examination revealed chronic axonal neuropathy and widened Schmidt-Lanterman incisures of myelinated fibers.I20T mutation in GJB1 gene was detected in the proband and his mother, but not in non-illness control women and his father.Conclusions Novel 120T mutation of GJBI maybe could result in CMT1X with predominant recurrent leucocncephalopathy.The white matter changes in MRI are reversibility.
