Ataxia With Vitamin E Deficiency Syndrome and a Novel TTPA Variant

Objectives: ) gene on chromosome 8q13. 1. According to family segregation studies, we describe a novel putative variant in compound heterozygosity with a known pathogenic variant. Methods: Clinical and instrumental evaluations were performed at our Neuromuscular Unit. Results: gene in both, the pathogenetic maternally inherited variant c. 513₅14insTT (p. Thr172Leufs*5) on exon 3 and the previously undescribed paternally inherited variant c. 158T > C (p. Leu53Pro) on exon 1. Their plasma vitamin E levels were low (<1. 7 mg/L). Their relatives carried 1 single variant each, with normal vitamin E levels. After 6 months of oral vitamin supplementation with a laboratory response, disease progression has stopped, although their neurologic examination has not clearly ameliorated. Discussion: Exome sequencing identified a new potentially pathogenic variant in AVED, an ultra-rare but treatable cause of inherited ataxia. We recommend prompt vitamin E supplementation in patients with AVED.