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Table 5 Treatable ataxias

From: Guidelines on the diagnosis and management of the progressive 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
5.2 Ataxia with vitamin E deficiency
 Recommendation Grade
Patients diagnosed with ataxia with vitamin E deficiency or abetalipoproteinemia should be treated with vitamin E supplements. C [35, 36]
5.3 Ataxia with vitamin B12 deficiency
 Recommendation Grade
Patients diagnosed with ataxia and Vitamin B12 deficiency should be treated with Vitamin B12. GPP
5.4 Ataxia with CoQ10 (ubiquinone) deficiency
 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]
5.5 Cerebrotendinous xanthomatosis
 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]
5.6 Niemann-Pick type C (NPC)
 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]