National Hospital for Neurology and Neurosurgery, London, UK.
Neurogenetics. 2010 May;11(2):261-5. doi: 10.1007/s10048-009-0233-x. Epub 2010 Feb 17.
Friedreich ataxia (FRDA) is typically characterized by slowly progressive ataxia, depressed tendon reflexes, dysarthria, pyramidal signs, and loss of position and vibration sense with onset before 25 years. While several atypical forms of FRDA are recognized, profound vision deficit is rare. We describe here a 41-year-old man with profound vision deficit and episodic complete blindness associated with marked optic atrophy, spastic paraparesis, and sensory neuropathy without ataxia whose diagnostic evaluation revealed compound heterozygosity for two frataxin mutations, a 994 GAA repeat intronic expansion and c.389G > T (p.G130V) missense mutation. This case emphasizes that FRDA should be considered for individuals with significant vision deficit with optic atrophy and sensory neuropathy, even in the absence of ataxia. This case also raises the additional, related concern that prior studies may underestimate the frequency and varieties of variant forms of FRDA.
弗里德赖希共济失调（FRDA）的特征通常为进行性共济失调、腱反射减弱、构音障碍、锥体束征以及位置觉和振动觉丧失，发病年龄在 25 岁之前。尽管已经认识到几种非典型 FRDA 形式，但严重视力缺陷较为罕见。我们在此描述一例 41 岁男性，其表现为严重视力缺陷和间歇性完全失明，伴有明显的视神经萎缩、痉挛性截瘫和感觉神经病，无共济失调，其诊断评估显示两种 frataxin 突变的复合杂合性，即 994 GAA 重复内含子扩展和 c.389G > T（p.G130V）错义突变。该病例强调，即使没有共济失调，对于有明显视神经萎缩和感觉神经病的严重视力缺陷患者，也应考虑 FRDA。该病例还提出了另一个相关问题，即先前的研究可能低估了 FRDA 变异形式的频率和种类。
