Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Ataxia with vitamin E deficiency

Reviewed December 2015

What is ataxia with vitamin E deficiency?

Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which means that it protects cells in the body from the damaging effects of unstable molecules called free radicals. A shortage (deficiency) of vitamin E can lead to neurological problems, such as difficulty coordinating movements (ataxia) and speech (dysarthria), loss of reflexes in the legs (lower limb areflexia), and a loss of sensation in the extremities (peripheral neuropathy). Some people with this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years. The movement problems tend to worsen with age.

How common is ataxia with vitamin E deficiency?

Ataxia with vitamin E deficiency is a rare condition; however, its prevalence is unknown.

What genes are related to ataxia with vitamin E deficiency?

Mutations in the TTPA gene cause ataxia with vitamin E deficiency. The TTPA gene provides instructions for making the α-tocopherol transfer protein (αTTP), which is found in the liver and brain. This protein controls distribution of vitamin E obtained from the diet (also called α-tocopherol) to cells and tissues throughout the body. Vitamin E helps cells prevent damage that might be done by free radicals.

TTPA gene mutations impair the activity of the αTTP protein, resulting in an inability to retain and use dietary vitamin E. As a result, vitamin E levels in the blood are greatly reduced and free radicals accumulate within cells. Nerve cells (neurons) in the brain and spinal cord (central nervous system) are particularly vulnerable to the damaging effects of free radicals and these cells die off when they are deprived of vitamin E. Nerve cell damage can lead to problems with movement and other features of ataxia with vitamin E deficiency.

Related Gene(s)

Changes in this gene are associated with ataxia with vitamin E deficiency.

  • TTPA

How do people inherit ataxia with vitamin E deficiency?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Where can I find information about diagnosis or management of ataxia with vitamin E deficiency?

These resources address the diagnosis or management of ataxia with vitamin E deficiency and may include treatment providers.

  • Gene Review: Ataxia with Vitamin E Deficiency (http://www.ncbi.nlm.nih.gov/books/NBK1241)
  • Genetic Testing Registry: Ataxia with vitamin E deficiency (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1848533)
  • MedlinePlus Encyclopedia: Retinitis pigmentosa (https://www.nlm.nih.gov/medlineplus/ency/article/001029.htm)
  • MedlinePlus Encyclopedia: Vitamin E (https://www.nlm.nih.gov/medlineplus/ency/article/002406.htm)

You might also find information on the diagnosis or management of ataxia with vitamin E deficiency in Educational resources and Patient support.

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about ataxia with vitamin E deficiency?

You may find the following resources about ataxia with vitamin E deficiency helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for ataxia with vitamin E deficiency?

  • ataxia with isolated vitamin E deficiency
  • AVED
  • familial isolated vitamin E deficiency
  • FIVE
  • Friedreich ataxia phenotype with selective vitamin E deficiency
  • Friedreich-like ataxia

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about ataxia with vitamin E deficiency?

Ask the Genetic and Rare Diseases Information Center (https://rarediseases.info.nih.gov/gard).

What glossary definitions help with understanding ataxia with vitamin E deficiency?

ataxia ; autosomal ; autosomal recessive ; cell ; central nervous system ; deficiency ; dysarthria ; familial ; free radicals ; gene ; inherited ; nerve cell ; nervous system ; neurological ; neuropathy ; peripheral ; peripheral neuropathy ; phenotype ; prevalence ; protein ; recessive

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References

  • Bromley D, Anderson PC, Daggett V. Structural consequences of mutations to the α-tocopherol transfer protein associated with the neurodegenerative disease ataxia with vitamin E deficiency. Biochemistry. 2013 Jun 18;52(24):4264-73. doi: 10.1021/bi4001084. Epub 2013 Jun 10. (http://www.ncbi.nlm.nih.gov/pubmed/23713716?dopt=Abstract)
  • Di Donato I, Bianchi S, Federico A. Ataxia with vitamin E deficiency: update of molecular diagnosis. Neurol Sci. 2010 Aug;31(4):511-5. doi: 10.1007/s10072-010-0261-1. Epub 2010 May 13. Review. (http://www.ncbi.nlm.nih.gov/pubmed/20464573?dopt=Abstract)
  • El Euch-Fayache G, Bouhlal Y, Amouri R, Feki M, Hentati F. Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. Brain. 2014 Feb;137(Pt 2):402-10. doi: 10.1093/brain/awt339. Epub 2013 Dec 25. (http://www.ncbi.nlm.nih.gov/pubmed/24369383?dopt=Abstract)
  • Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G, Pareyson D, Piccolo G, Gambi D, Piacentini S, Squitieri F, Capra R, Castellotti B, Di Donato S. Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci. 2004 Jul;25(3):130-7. (http://www.ncbi.nlm.nih.gov/pubmed/15300460?dopt=Abstract)
  • Pang J, Kiyosawa M, Seko Y, Yokota T, Harino S, Suzuki J. Clinicopathological report of retinitis pigmentosa with vitamin E deficiency caused by mutation of the alpha-tocopherol transfer protein gene. Jpn J Ophthalmol. 2001 Nov-Dec;45(6):672-6. (http://www.ncbi.nlm.nih.gov/pubmed/11754917?dopt=Abstract)
  • Qian J, Atkinson J, Manor D. Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein. Biochemistry. 2006 Jul 11;45(27):8236-42. (http://www.ncbi.nlm.nih.gov/pubmed/16819822?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: December 2015
Published: February 1, 2016