Hammans S R, Kennedy C R
Wessex Neurological Centre, Southampton General Hospital, UK.
J Neurol Neurosurg Psychiatry. 1998 Mar;64(3):368-70. doi: 10.1136/jnnp.64.3.368.
Ataxia with vitamin E deficiency is an autosomal recessive condition associated with a defect in the a-tocopherol transfer protein. Clinically it manifests as a progressive ataxia with a phenotype resembling that of Friedreich's ataxia. There is some evidence that progression of neurological symptoms is prevented by vitamin E therapy. A patient is described who was given a clinical diagnosis of Friedreich's ataxia. Molecular genetic analysis showed the absence of the frataxin gene expansion. Subsequent vitamin E assay showed deficiency and a diagnosis of ataxia with vitamin E deficiency was made. It is recommended that all patients with ataxia of unknown cause should have vitamin E deficiency excluded. When a diagnosis of Friedreich's ataxia is considered patients should have frataxin analysis in addition. Further, neurologists should be aware that ataxia with vitamin E deficiency may present as "mutation negative" Friedreich's ataxia.
维生素E缺乏伴共济失调是一种常染色体隐性疾病，与α-生育酚转运蛋白缺陷有关。临床上表现为进行性共济失调，其表型类似于弗里德赖希共济失调。有证据表明，维生素E治疗可预防神经症状的进展。本文描述了一名被临床诊断为弗里德赖希共济失调的患者。分子遗传学分析显示无frataxin基因扩增。随后的维生素E检测显示缺乏，从而诊断为维生素E缺乏伴共济失调。建议所有不明原因共济失调的患者都应排除维生素E缺乏。当考虑诊断为弗里德赖希共济失调时，患者还应进行frataxin分析。此外，神经科医生应意识到，维生素E缺乏伴共济失调可能表现为“突变阴性”的弗里德赖希共济失调。
