46 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 geneis 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 recessivemanner. 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
Disease Interacts with Genes
Disease Interacts with Substances
Processes Associated With Trait
Molecular Function Associated With Trait
Biological Processes Associated With Trait
Pathways Associated With Trait
Selected genes are highlighted in orange, bookmarked
genes are green
- Chemical increases gene,
- Chemical decreases gene,
- Chemical increases and decreases gene simultaneosly,
No arrows - gene doesn't interact with the chemical.
- Gene should be increased/decreased most of the time and the chemical does it.
- Gene should be increased/decreased most of the time but the chemical does the opposite.