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.
Read more about the TTPA gene.
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 treatment for ataxia with vitamin E deficiency?
These resources address the management of ataxia with vitamin E deficiency and may include treatment providers.
You might also find information on treatment of ataxia with vitamin E deficiency in
Educational resources and Patient support.
Where can I find additional information about ataxia with vitamin E deficiency?
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
What if I still have specific questions about ataxia with vitamin E deficiency?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding ataxia with vitamin E deficiency?
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? in the Handbook.