Labauge P, Cavalier L, Ichalalène L, Castelnovo G
Service de Neurologie, CHU de Nîmes.
Rev Neurol (Paris). 1998 May;154(4):339-41.
A 24-year-old patient, born from consanguineous parents, consulted for cerebellar syndrome, ataxia, loss of proprioception, bilateral Babinski sign and lower limbs areflexia. No mutation on Friedreich's ataxia gene was found. Plasmatic vitamin E level was extremely low. Point mutation on gene coding for alpha-tocopherol transfer protein (alpha-TTP) confirmed the diagnosis of familial isolated vitamin E deficiency (AVED). Vitamin E therapy restored normal serum levels and neurological symptoms were stabilized.
一名24岁的患者，其父母为近亲结婚，因小脑综合征、共济失调、本体感觉丧失、双侧巴氏征及下肢反射消失前来就诊。未发现弗里德赖希共济失调基因有突变。血浆维生素E水平极低。编码α-生育酚转运蛋白（α-TTP）的基因点突变确诊为家族性单纯维生素E缺乏症（AVED）。维生素E治疗使血清水平恢复正常，神经症状得以稳定。
