Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disease that is based in a deficiency of sterol 27-hydroxylase, which leads to the storage of cholestanol and cholesterol in the lenses, central nervous system and tendons [1, 2]. The most common neurological manifestations of CTX include pyramidal signs, cerebellar ataxia, cognitive impairment, dysphagia, dysarthria and peripheral neuropathy [3]. Brain magnetic resonance imaging (MRI) usually reveals cerebral atrophy and T2 signal changes in the dentate nucleus and, less commonly, in the spinal cord and basal ganglia [4].

Chenodeoxycholic acid (CDCA) effectively treats the symptoms of CTX via a reduction in the synthesis and plasma levels of cholestanol [3]. Although the effects of CDCA on the progression of CTX have been explicitly described, the value of treating the ongoing symptoms of CTX using pharmacotherapies remains controversial [5–7]. For example, adult CTX patients may undergo long-term treatment with CDCA alone or in combination with inhibitors of hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) reductase [8]. Similarly, high-dose parenteral piracetam is effective in some definite and probable cases of hereditary spinocerebellar ataxia (SCA)[9, 10]. Here, we report the effectiveness of high-dose intravenous piracetam for the treatment of ataxia in two cases of CTX.