Study Reports Case of Ataxia with Vitamin E Deficiency Misdiagnosed as Friedreich’s Ataxia

A recent study describes a case of ataxia with isolated vitamin E deficiency (AVED) that was initially misdiagnosed as Friedreich’s ataxia, delaying proper treatment. The study was published in the journal Case Reports in Neurological Medicine.

AVED is a rare genetic disease characterized by progressive cerebellar ataxia, dorsal column signs, and pyramidal deficits on examination. Clinically, this disease is almost indistinguishable from Friedreich’s ataxia (a rare inherited disease that causes nervous system damage, leading to impaired muscle coordination, which worsens over time). The majority of AVED’s devastating neurological features, when correctly diagnosed, can be prevented with appropriate treatment.

In the study — “A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich’s Ataxia” — the authors reported a case of a 28-year-old Iranian man initially diagnosed with Friedreich’s ataxia who was later found to have AVED. The patient had his first symptoms at the age of 15, showing progressive gait difficulties. He experienced muscle wasting and paraesthesia of the legs. Within five years, he developed cerebellar dysarthria. His life (he was a medical student) was severely affected as a result — he was forced to drop out of school and was confined to a wheelchair. There was no parent consanguinity or gastrointestinal symptoms, and two cousins presented speech difficulties but no further family history. Neurological exams showed broad-based gait, which was clearly ataxic, and examination of the cranial nerves revealed dysarthria, nystagmus, and normal fundoscopy. Moreover, upper and lower limb examination confirmed cerebellar ataxia with intention tremor and absent deep tendon reflexes. However, genetic analysis of the gene responsible for Friedreich’s ataxia, the frataxin gene, showed no defects (including two normal alleles and no expansion).

Further investigation lead to the discovery of a vitamin E deficiency, and analysis of the TTPA gene showed mutations. These findings supported AVED diagnosis.

Following diagnosis, the patient started treatment with high dose vitamin E (administered as D-alpha tocopherol supplementation at 800 mg/day). Within one year, the patient’s serum vitamin E concentration improved, and his ataxia and dysarthria stabilized.

The authors concluded that vitamin E levels should be part of the initial screening of a patient with young onset progressive ataxia to identify AVED.