Pearls & Oy-sters: A Novel Presentation of Ataxia With Vitamin E Deficiency Caused by TTPA Gene Mutation

Abstract

Ataxia with isolated vitamin E deficiency can present with a phenotype similar to a complex hereditary spastic paraplegia with dystonia and bradykinesia, but absent cerebellar ataxia or proprioceptive deficits. c Despite being rare, prompt recognition of ataxia with vitamin E deficiency is critical as supplementation stops disease progression in most cases.

Genetically Proven Ataxia With Vitamin E Deficiency With Predominant Cervicobrachial Dystonic Presentation: A Case Report From India

“…Pradeep et al 5 reported two out of three siblings from a family with AVED who had predominant dystonic head tremor at onset followed by the development of other features of AVED. Subsequently, there are two additional reports 7,8 of dystonia in patients with AVED (Supplementary Table 1 in the online-only Data Supplement). Among the cases reported to date, including ours, the common trend is that dystonia predominantly involves the neck in more than three-fourths of patients, followed by the upper limbs and lower limbs; dystonia eventually generalizes in approximately 50% of patients, and although it can be the first symptom, it is never isolated, as it is always associated with other features of AVED, such as ataxia, hyporeflexia and/or proprioceptive impairment.…”