Article
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.
Journal of neurology - 1 Feb 2018
Catarino Claudia B, Vollmar Christian, Küpper Clemens, Seelos Klaus, Gallenmüller Constanze, Bartkiewicz Joanna, Biskup Saskia, Hörtnagel Konstanze, Klopstock Thomas
Abstract excerpt
Cerebrotendinous xanthomatosis (CTX, MIM 213700) is a rare autosomal recessive lipid storage disorder caused by CYP27A1 mutations. Treatment with chenodeoxycholic acid (CDCA) may slow the progression of the disease and reverse some symptoms in a proportion of patients. In a non-consanguineous Caucasian family, two siblings with CTX were evaluated before treatment and prospectively followed-up every 6 months after...
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