Ataxia With Vitamin E Deficiency Syndrome and a Novel TTPA Variant

Neurology Genetics 2026 Open access

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Authors: Giacomo Baso, Francesca Magri, Monica Sciacco, Stefania Paola Corti, Giacomo P. Comi, Dario Ronchi, Daniele Velardo
DOI: 10.1212/nxg.0000000000200399
Cited by: 1
References: 12

Abstract

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.513_514insTT (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 (

Fields of Study & Subjects

Antioxidant Activity and Oxidative Stress Retinoids in leukemia and cellular processes Folate and B Vitamins Research

Publication details

Journal / source
Neurology Genetics
Publisher
Ovid Technologies (Wolters Kluwer Health)
Volume
12
Issue
3
Pages
e200399–e200399
Publication date
18 May 2026
Language
EN