Table 4:
Disease modifying therapies for autosomal recessive ataxias
| Ataxia type | Treatment | Evidence | Mechanism of action | References |
|---|---|---|---|---|
| Wilson disease | Copper chelators | Observational studies | Blockade of intestinal copper absorption | (Aggarwal and Bhatt, 2018) |
| Niemann-Pick Disease | Miglustat | A prospective randomized control studies | Inhibition of glycosphingolipid synthesis | (Pineda et al., 2018) |
| Niemann-Pick Disease | Intrathecal 2-hydroxypropyl-β-cyclodextrins | An open label, observational study | Unclear | (Ory et al., 2017) |
| Ataxia Telangiectasia | Glucocorticoids | An prospective, cohort study | Unclear, possible restoration of ATM gene expression | (Menotta et al., 2017; Zannolli et al., 2012) |
| Cerebrotendinous xanthomatosis | Chenodeoxycholic acid supplementation | An open label, observational study | Replace missing bile acids; lipid metabolism deficit | (Berginer et al., 1984; Nie et al., 2014; Pierre et al., 2008) |
| Ataxia with vitamin E deficiency | Vitamin E | An open label, observational study | Replacement therapy | (Gabsi et al., 2001) |
| Riboflavin transporter deficiency neuronopathy (SLC52A2 gene mutation) | Riboflavin | An open label, observational study | Supplementation to boost absorption | (Foley et al., 2014; Guissart et al., 2016) |
| Autosomal recessive cerebellar ataxia 2 | Ubidecarenone | An open label, observational study | Replacement therapy | (Mignot et al., 2013) |
| Abetalipoproteinemia | Low-fat diet, essential fatty acid supplementation | A case series | Replacement therapy | (Chardon et al., 2009; Lee and Hegele, 2014) |
| Biotinidase deficiency | Biotin | A case series | Replacement therapy | (Wolf, 2017) |
| SLC19A3 gene mutation | Biotin, thiamine | A case series | Replacement therapy | (Debs et al., 2010) |
| CoQ10, CoQ4 deficiency | Coenzyme Q10 | A case series | Replacement therapy | (Caglayan et al., 2019) |
| Refsum disease | Phytanic acid restriction, lipid apheresis | A case report and 2 case series | Toxic substrate reduction | (Baldwin et al., 2010; Gibberd et al., 1979; Zolotov et al., 2012) |
| Friedreich ataxia | Frataxin-expressing adeno-associated virus | A preclinical, rodent study | Frataxin replacement | (Piguet et al., 2018) |
| Friedreich ataxia | Allogenic stem cell transplantation | A preclinical, rodent study | Increasing frataxin levels | (Kemp et al., 2018) |
| Friedreich ataxia | ASO targeting triplet expansion in frataxin | A preclinical, rodent study | Increasing frataxin expression | (Li et al., 2018) |
CoQ4: Coenzyme Q4, CoQ10: Coenzyme Q10