Table 5 Treatable ataxias

5.1 Gluten ataxia

 Recommendation

Grade

It is recommended that patients with idiopathic cerebellar ataxia are tested for gluten sensitivity.

GPP

Consider testing for antibodies against TG6 (when possible) as a more sensitive test for gluten ataxia.

C [32, 33]

Ataxia patients with or without enteropathy who have serological evidence of gluten sensitivity should be advised to start a gluten-free diet without delay.

C [34]

Patients who are starting a gluten-free diet should be advised about strict adherence and given dietetic advice.

GPP

Close monitoring is recommended with six-monthly testing to ensure for elimination of antigliadin antibodies.

GPP

 Recommendation

Grade

Patients diagnosed with ataxia with vitamin E deficiency or abetalipoproteinemia should be treated with vitamin E supplements.

C [35, 36]

 Recommendation

Grade

Patients diagnosed with ataxia and Vitamin B12 deficiency should be treated with Vitamin B12.

GPP

 Recommendation

Grade

Patients diagnosed with ataxia with CoQ10 deficiency should be treated with CoQ10 supplements.

D [37,38,39]

Consider treatment of patients diagnosed with AOA1 with CoQ10 supplementation.

D [40, 41]

 Recommendation

Grade

Prompt diagnosis of cerebrotendinous xanthomatosis is advised in order to initiate treatment.

GPP

If cerebrotendinous xanthomatosis is diagnosed treatment with chenodeoxycholic acid is recommended.

B [42, 43]

 Recommendation

Grade

If NPC is suspected based on clinical investigations, perform diagnostic tests described above. Early diagnosis is important as it is a treatable condition.

GPP

If NPC is diagnosed refer promptly to a Specialist Centre for treatment and management.

GPP

Treatment with Miglustat is recommended in both adult and paediatric cases and is available in Specialist Centres.

B [44,45,46,47,48]