Scali O, Di Perri C, Federico A
Dipartimento di Scienze Neurologiche e del Comportamento, Facoltà di Medicina e Chirurgia, Università degli studi di Siena, Viale Bracci 2, I-53100, Siena, Italy.
Neurol Sci. 2006 Sep;27(4):271-7. doi: 10.1007/s10072-006-0683-y.
Vanishing white matter disease (VWM; MIM #603896), also known as childhood ataxia with central nervous system hypomyelination (CACH) syndrome, is an autosomal recessive transmitted leukoencephalopathy related to mutations in each of the 5 genes (EIF2B1, EIF2B2, EIF2B3, EIF2B4 and EIF2B5) encoding for the 5 subunits of eukaryotic translation initiation factor 2B (eIF2B), essential for protein synthesis. VWM is characterised by ataxia, spasticity, variable optic atrophy and intermittent episodes of acute regression of clinical and neurological status. Another key step in diagnosis, besides clinical picture and gene sequencing, is magnetic resonance imaging (MRI), which typically shows a progressive rarefaction of the brain white matter, and its replacement by cerebrospinal fluid (CSF). In the present paper we summarise the up-to-date knowledge about VWM and include the full list of known mutations.
消失性白质病（VWM；MIM #603896），也称为伴有中枢神经系统髓鞘形成低下的儿童共济失调（CACH）综合征，是一种常染色体隐性遗传的白质脑病，与编码真核翻译起始因子2B（eIF2B）5个亚基的5个基因（EIF2B1、EIF2B2、EIF2B3、EIF2B4和EIF2B5）中的每一个基因突变有关，该因子对蛋白质合成至关重要。VWM的特征为共济失调、痉挛、可变的视神经萎缩以及临床和神经状态的急性倒退间歇性发作。除临床症状和基因测序外，诊断的另一个关键步骤是磁共振成像（MRI），其通常显示脑白质进行性稀疏，并被脑脊液（CSF）替代。在本文中，我们总结了关于VWM的最新知识，并列出了已知突变的完整清单。
