Ataxia with vitamin E deficiency

Reviewed April 2008

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. Vitamin E is an antioxidant that protects cells in the body from the damaging effects of unstable molecules called free radicals. Lack of vitamin E causes 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). A few 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 age of 4 years and 18 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 the distribution of vitamin E obtained from the diet (also called α-tocopherol) to cells and tissues throughout the body. Cells neutralize free radicals with the aid of vitamin E, which prevents damage to the cell. Mutations in the TTPA gene impair the activity of the αTTP protein, resulting in an inability to retain and use dietary vitamin E. This deficiency leads to accumulation of free radicals 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 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 (http://www.nlm.nih.gov/medlineplus/ency/article/001029.htm)
MedlinePlus Encyclopedia: Vitamin E (http://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 (http://www.ghr.nlm.nih.gov/condition/ataxia-with-vitamin-e-deficiency/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/ataxia-with-vitamin-e-deficiency/show/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.

MedlinePlus - Health information
- Encyclopedia: Retinitis pigmentosa (http://www.nlm.nih.gov/medlineplus/ency/article/001029.htm)
- Encyclopedia: Vitamin E (http://www.nlm.nih.gov/medlineplus/ency/article/002406.htm)
- Health Topic: Movement Disorders (http://www.nlm.nih.gov/medlineplus/movementdisorders.html)
- Health Topic: Neuromuscular Disorders (http://www.nlm.nih.gov/medlineplus/neuromusculardisorders.html)
Additional NIH Resources - National Institutes of Health
- National Institute of Neurological Disorders and Stroke (http://www.ninds.nih.gov/disorders/ataxia/ataxia.htm)
- Office of Dietary Supplements (http://ods.od.nih.gov/factsheets/VitaminE-QuickFacts/)
Educational resources - Information pages
Merck Manual Home Edition for Patients and Caregivers: Coordination Disorders (http://www.merckmanuals.com/home/brain_spinal_cord_and_nerve_disorders/movement_disorders/coordination_disorders.html)
Patient support - For patients and families
- Family Village (http://www.familyvillage.wisc.edu/lib_atax.htm)
- Foundation Fighting Blindness: What is Retinitis Pigmentosa? (https://www.blindness.org/index.php?option=com_content&view=article&id=50&Itemid=67)
- National Ataxia Foundation (http://www.ataxia.org/)
- National Organization for Rare Disorders (NORD) (http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/658/viewAbstract)
- Resource list from the University of Kansas Medical Center (http://www.kumc.edu/gec/support/ataxia.html)

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

Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1241/)
Genetic Testing Registry - Repository of genetic test information
- Genetic Testing Registry: Ataxia with vitamin E deficiency (http://www.ncbi.nlm.nih.gov/gtr/conditions/C1848533)
PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((ataxia%20with%20vitamin%20E%20deficiency)%20OR%20(AVED%5BTIAB%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201440%20days%22%5Bdp%5D)
OMIM - Genetic disorder catalog (http://omim.org/entry/277460)

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
Vitamin E Deficiency

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 (http://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 ; 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 (http://www.ghr.nlm.nih.gov/glossary).

References

Gordon N. Hereditary vitamin-E deficiency. Dev Med Child Neurol. 2001 Feb;43(2):133-5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11221903?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)
Morley S, Panagabko C, Shineman D, Mani B, Stocker A, Atkinson J, Manor D. Molecular determinants of heritable vitamin E deficiency. Biochemistry. 2004 Apr 13;43(14):4143-9. (http://www.ncbi.nlm.nih.gov/pubmed/15065857?dopt=Abstract)
Ouahchi K, Arita M, Kayden H, Hentati F, Ben Hamida M, Sokol R, Arai H, Inoue K, Mandel JL, Koenig M. Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet. 1995 Feb;9(2):141-5. (http://www.ncbi.nlm.nih.gov/pubmed/7719340?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)
Yokota T, Shiojiri T, Gotoda T, Arita M, Arai H, Ohga T, Kanda T, Suzuki J, Imai T, Matsumoto H, Harino S, Kiyosawa M, Mizusawa H, Inoue K. Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the alpha-tocopherol transfer protein gene. Ann Neurol. 1997 Jun;41(6):826-32. (http://www.ncbi.nlm.nih.gov/pubmed/9189046?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.