Table 3.
Disease | Treatment |
---|---|
ATX–TTP (Ataxia with vitamin E deficiency) |
α-tocopherol (vitamin E) |
ATX–CYP27A1 (Cerebrotendinous Xanthomatosis) |
Chenodeoxycholic acid, ursodeoxycholic acid, cholic acid and taurocholic acid |
ATX–PHYH (Refsum’s disease) |
Diet with phytanic acid restriction, plasmapheresis for acute presentation |
ATX–NPC1 (Niemann–Pick disease type C1) |
Miglustat |
ATX–ADCK3 (ARCA2/SCAR9) |
Oral supplementation of coenzyme Q10 |
ATX–ATM (Ataxia–telangiectasia) ERCC4 (XFE progeroid syndrome) |
Avoid exposure to sun and radiations |
DYT/ATX–ATP7B (Wilson’s disease) | D-penicillamine, trientine, zinc acetate/sulfate and liver transplantation in acute forms |
MTTP (Abetalipoproteinemia) |
Fat-soluble vitamins (vitamin A, E, D, K) low-fat diet |
PxMD–SLC2A1 (GLUT1 deficiency) |
Ketogenic diet and triheptanoin |
PxMD–KCNA1 (Episodic ataxia type 1) |
Carbamazepine |
PxMD–CACNA1A (Episodic ataxia type 2) |
Acetazolamide 4-aminopyridine or baclofen (useful for downbeat nystagmus treatment) |