Table 2.

Ataxia with Vitamin E Deficiency: Frequency of Select Features in Untreated Individuals

Feature 1% of Persons w/Feature
Cerebellar involvementGait impairment93.4%
Dysarthria61.8%
Head titubation33%
Nystagmus5.3%
Lower motor neuron involvementAreflexia94.7%
Deep sensory disturbances67.1%
Upper motor neuron involvementBabinski sign85.5%
Urinary urgency22.4%
Pigmentary retinopathy2.3%
Cardiomyopathy1.5%

Based on findings in 132 individuals of North African descent [El Euch-Fayache et al 2014]

From: Ataxia with Vitamin E Deficiency

Cover of GeneReviews®
GeneReviews® [Internet].
Adam MP, Feldman J, Mirzaa GM, et al., editors.
Seattle (WA): University of Washington, Seattle; 1993-2024.
Copyright © 1993-2024, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2024 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.