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. 2022 Sep 24;270(1):208–222. doi: 10.1007/s00415-022-11383-6

Table 3.

Treatments available for inherited cerebellar ataxias

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)