A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich's Ataxia

Michael Bonello and Partha Ray. Case Rep Neurol Med. 2016; 2016: 8342653. Published online 2016 Feb 16. doi:10.1155/2016/8342653

We advocate that vitamin E levels should form part of the initial screen for a patient with young onset progressive ataxia. In the literature there are a number of cases of patients who have been clinically diagnosed prior to genetic testing being widely available. We do recommend that such patients have their frataxin gene checked and if negative have a vitamin E blood level tested as adequate treatment with high dose vitamin E can halt progression of the condition and can be invaluable in genetic counselling.

 A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich's Ataxia