Diagnosis and Treatment of Progressive Ataxias Clinical Practice Guidelines (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.

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Cite this: Diagnosis and Treatment of Progressive Ataxias Clinical Practice Guidelines (2019) - Medscape - Mar 26, 2019.