Diagnosis and Treatment of Progressive Ataxias Clinical Practice Guidelines (2019)

Ataxia UK

This is a quick summary of the guidelines without analysis or commentary. For more information, go directly to the guidelines by clicking the link in the reference.

March 26, 2019

Treatable Ataxias

Gluten ataxia: Patients with idiopathic cerebellar ataxia should be tested for gluten sensitivity. If possible, consider testing for antibodies against TG6, which can be a more sensitive test for gluten ataxia. In ataxia patients with or without enteropathy who have serological evidence of gluten sensitivity, a gluten-free diet should be started immediately. These patients should be given dietetic advice and should be advised about strict adherence to the diet. Close monitoring is recommended; testing should be performed at 6-month intervals to ensure antigliadin antibodies are eliminated.

Ataxia with vitamin E deficiency: In ataxia with vitamin E deficiency or abetalipoproteinemia, treat with vitamin E supplementation.

Ataxia with vitamin B-12 deficiency: Treat with vitamin B-12 supplementation.

Ataxia with coenzyme Q10 (ubiquinone) deficiency: Treat with coenzyme Q10 supplementation. If patients are diagnosed with ataxia with oculomotor apraxia type 1, also consider treatment with coenzyme Q10 supplementation.

Cerebrotendinous xanthomatosis: Prompt diagnosis is advised in order to initiate treatment; treatment with chenodeoxycholic acid is recommended.

Niemann-Pick disease type C: If the results of clinical investigations suggest Niemann-Pick disease type C, perform diagnostic tests as outlined in these guidelines. Because this is a treatable condition, early diagnosis is important. If Niemann-Pick disease type C is diagnosed, promptly refer patients to a specialist for treatment and management. The recommended treatment in both adult and pediatric patients is miglustat, which is available at specialist centers.

Treatable Ataxias in Children

Glucose transporter 1 deficiency: Treat with a ketogenic diet.

Hypobetalipoproteinemia: The moderate form can be treated by reducing the proportion of fat in the patient's diet and with vitamin E supplementation.

Hartnup disease: Consider treatment with nicotinamide or with a tryptophan-rich diet. Advise patients on a high-protein diet, sunlight protection, and avoiding photosensitizing drugs.

Biotinidase deficiency: Treat with biotin.

Pyruvate deficiency: Consider thiamine, carnitine, or lipoic acid, and advise a ketogenic diet.

Structural disorders: If ataxia is attributable to structural causes, referral for neurosurgical treatment can be recommended.

For more information, please go to Friedreich Ataxia.

For more Clinical Practice Guidelines, please go to Guidelines.


Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.