Cerebrotendinous Xanthomatosis ataxia responsive to CDCA and Riluzole
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DOI: 10.1016/j.jocn.2018.04.043
Abstract: 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… read more here.
Keywords: cdca; ctx; ataxia; cdca riluzole ... See more keywords