Ataxia
Ataxia is a degenerative disease of the nervous system. It is a clinical manifestation indicating dysfunction of the parts of the nervous system that coordinates movement, such as the cerebellum. Ataxia can have an insidious onset with a chronic and progressive clinical course (e.g. spinocerebellar ataxias of genetic origin) or have an acute onset resulting from cerebellar infarction, hemorrhage, or infection. Ataxia usually manifests as:
- Lack of coordination
- Trouble eating and swallowing
- Slurred speech
- Difficulty in walking
- Eye movement abnormalities
- Deterioration of fine motor skills
- Tremors
- Gait abnormalities
- Heart problems
Fig.1 Mitochondrial pathophysiology in Friedreich's Ataxia.
Ataxia can be a symptom of a multisystemic disorder, and an underlying etiology needs to be investigated. Ongoing discoveries of genetic abnormalities suggest the possible relations to mitochondrial dysfunction, related protein misfolding, abnormal mechanisms of DNA repair, oxidative stress, and abnormalities in cytoskeletal proteins.
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Pathways and Genes Related to Ataxia
| Super Pathways | Top Affiliating Genes |
| A Double-Strand Break Repair | XRCC1, TDP1, PNKP, LIG3, FEN1, ATM |
| TCR Signaling | WASL, WAS, PIK3R5, CACNA1A, ATM, ACTA1 |
| Chks in Checkpoint Regulation | XRCC1, PNKP, LIG3, FEN1, ATM |
| G-protein Signaling RAC1 in Cellular Process | WASL, WASF1, WAS, PIK3R5, ACTA1 |
| Iron Metabolism in Placenta | TFRC, ACO1 |
| Mitochondrial Iron-sulfur Cluster Biogenesis | LYRM4, FXN |
