Table 2.
Summary of evidence reviewed in the present study to identify additional affected structures in Friedreich ataxia
| Structure | Evidence from Autopsy | Evidence from Imaging | Evidence from Neurophysiology | Clinical Evidence | Evidence from Mouse Models | Potential Clinical Impact of Successful Therapy | Potential Biological Outcome Measures |
|---|---|---|---|---|---|---|---|
| Thalamus | Yes | Yes | Pathway | Pathway | No | Motor/gait, cognitive, vision (LGN) | aMRI: Volume |
| Red nucleus | Limited | Yes | No | No | No | Motor/gait | aMRI/sMRI: Volume, iron |
| Brain stem and pontine nuclei | Gracile and cuneate nuclei Yes | Yes | Yes | Pathway (sensory) | No | Motor/gait, defective corneal innervation | |
| Spinal cord Anterior horn neurons |
Yes; limited | No | Amyotrophy | Not a target. Possible evidence of late involvement |
LGN, lateral geniculate nuclei.