- an inherited autosomal recessive disorder that causes progressive damage to the nervous system
- muscle weakness
- speech problems
- heart disease
Results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs.
Caused by a FXN gene mutation that codes for frataxin, located on chromosome 9.
This protein is essential for proper functioning of mitochondria (it has been shown to be connected with the removal of iron from the cytoplasm surrounding the mitochondria, and in the absence of frataxin, the iron builds up and causes free radical damage).
Nerve and muscle cells appear to be particularly sensitive to the deleterious effects of this type of mitochondrial dysfunction.