Article
Adult-onset vanishing white matter in a patient with EIF2B3 variants misdiagnosed as multiple sclerosis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Apr 2022
Xu Lulu, Zhong Meixiang, Yang Yuyuan, Wang Meng, An Nina, Xu Xin, Zhu Yufeng, Li Zengwen, Chen Huili, Zhao Renliang, Zheng Xueping
Abstract excerpt
BACKGROUND: Vanishing white matter (VWM) is an autosomal recessive disorder characterized by childhood ataxia with central hypomyelination. Adult-onset VWM should be considered as a differential diagnosis for suspected cases of multiple sclerosis (MS). METHODS: Targeted region sequencing (TRS) and Sanger sequencing validation were performed to identify and validate the likely pathogenic mutations in a family with...
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