Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole

Cerebrotendinous Xanthomatosis (CTX) is a rare genetic disorder due to mutations in the CYP27A1 gene resulting in both systemic and neurologic manifestations from accumulation and deposition of cholestanol in tissues. Chenodeoxycholic Acid (CDCA) is the standard medical therapy, resulting in decreased cholestanol synthesis, however, neurologic improvement is typically not seen. Riluzole may have a symptomatic benefit in ataxia from a presumed protective effect on Purkinje cells. To date, there are no reports of symptomatic improvement in CTX related ataxia following treatment with Riluzole. We report the case of a 45 year old woman diagnosed with CTX-related cerebellar ataxia. Therapy with CDCA and Riluzole resulted in quantifiable improvement on the Scale for the Assessment and Rating of Ataxia (SARA). Thus, in addition to the standard therapy with CDCA, the addition of Riluzole may have some therapeutic benefits for ataxia caused by CTX. Further controlled studies are needed.