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COMMENTS & OPINIONS
New Therapies for Ataxia-Telangiectasia
José Gazulla, MD;
Isabel Benavente, MD;
Manuel Sarasa, MD
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We read with interest the recent article by Buoni et al1 in which the authors described a striking improvement in the ataxia in a 3-year-old boy with ataxia-telangiectasia (AT) during treatment with inhaled betamethasone. In spite of the favorable response to the drug, the authors expressed their concern about the adverse effects observed during the trial (weight gain and a cushingoid appearance) and about the safety of betamethasone in an already immunocompromised patient.1
We recently had the opportunity to treat an adult case of AT, a 34-year-old man born to consanguineous parents.2 The neurological exploration revealed gait ataxia with episodic support necessary to walk 10 m, mild distal weakness in the lower extremities, preserved tendon reflexes, and oculomotor apraxia. Administration of a placebo, acetazolamide, and gabapentin rendered no benefit while pregabalin at 225 mg/d improved gait, enabling the patient to walk . . . [Full Text of this Article] AUTHOR INFORMATION
RELATED LETTER
New Therapies for Ataxia-TelangiectasiaReply
Sabrina Buoni, Raffaella Zannolli, Livio Sorrentino, and Alberto Fois
Arch Neurol. 2007;64(4):608-609.
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