具有孤立性维生素E缺乏症(AVED)的共济失调是一种罕见的常染色体隐性遗传小脑共济失调性疾病,是由α-生育酚转移蛋白基因TTPA的突变引起的,导致血清维生素E水平较低。虽然它在临床上与弗里德赖希的共济失调几乎相似,通过适当的治疗可以预防其破坏性的神经系统特征。在这项研究中,我们介绍了一个最初被诊断为Friedreich共济失调的患者,但后来被发现有AVED。Frataxin基因筛选显示在纯合或杂合状态下不存在GAA扩增。然而,TTPA基因测序显示存在c.744delA突变,导致过早的终止密码子(p.E249fx)。此外,MT-DNA基因的突变分析结果揭示了几种变异的存在,包括MT-TG基因的m.1004A>G突变。这里,我们首次报道了AVED中线粒体和核基因突变的共存。
Ataxia with isolated vitamin E deficiency (
AVED) is a rare autosomal recessive cerebellar ataxia disorder that is caused by a mutation in the alpha-tocopherol transfer protein gene TTPA, leading to a lower level of serum vitamin E. Although it is almost clinically similar to Friedreich\'s ataxia, its devastating neurological features can be prevented with appropriate treatment. In this study, we present a patient who was initially diagnosed with Friedreich\'s ataxia, but was later found to have
AVED. Frataxin gene screening revealed the absence of GAA expansion in homozygous or heterozygous state. However, TTPAgene sequencing showed the presence of the c.744delA mutation, leading to a premature stop codon (p.E249fx). In addition, the result of mutational analysis of MT-DNA genes revealed the presence of several variants, including the m.10044A>G mutation in MT-TG gene. Here, we report for the first time the coexistence of both mitochondrial and nuclear genes mutations in
AVED.