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Ataxia with vitamin E deficiency (AVED) is a progressive disease affecting motor control and movement. Symptoms of AVED include slurred speech (dysarthria), difficulty coordinating movements (ataxia), numbness in the hands and feet (peripheral neuropathy), and progressive leg weakness. Some affected individuals may experience vision loss due to damage to the back of the eye (retinitis pigmentosa). Symptoms typically begin during childhood or adolescence and worsen with age, resulting in the need for a wheelchair by early adulthood. AVED is caused by a mutation to the TTPA gene. When this gene is damaged, vitamin E cannot be distributed throughout the body. Vitamin E is important because it protects the cells of the neurological system (neurons) from dangerous molecules called free radicals. AVED is inherited in an autosomal recessive manner. Treatment for AVED includes vitamin E supplements, which will prevent AVED from developing if given before symptoms begin and may reverse some neurological symptoms if begun after AVED develops.
Source: GARD Last updated on 05-01-20
AVED may be suspected in individuals who have the following findings at the beginning of puberty:
Laboratory studies typically show a reduced plasma vitamin E concentration but normal levels of lipoproteins (proteins that combine with and transport fat or other lipids in the blood). Other studies that may be useful include: nerve conduction studies, brain imaging, and studies of nerve tissues.
Although no universal diagnostic guidelines are available, researchers suggest that diseases that cause fat malabsorption, such as abetalipoproteinemia should be ruled out. Genetic testing finding two _TTPA _gene mutations may be useful to confirm the diagnosis.
Last updated on 05-01-20
Treatment for AVED requires lifelong high dose supplementation of vitamin E. When treated early, some symptoms, such as ataxia and intellectual decline, can be reversed. In older patients, treatment may slow disease progression, but some symptoms remain.
Research indicates that if vitamin E treatment is initiated in presymptomatic individuals with two mutations in the TTPA gene (e.g., younger sibs of an affected individual), the symptoms of AVED will not develop.
Last updated on 05-01-20
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