Cerebrotendinous xanthomatosis (CTX) is a treatable bile acid disorder caused by mutations of CYP27A1. The pathogenesis of neurological damage has not been completely explained. Oral chenodeoxycholic acid (CDCA) can lead to clinical stabilization, but in a subgroup of patients the disease progresses despite treatment. In the present study, we aimed at clarifying cholesterol metabolism abnormalities and their response to CDCA treatment, in order to identify reliable diagnostic and prognostic markers and understand if differences exist between stable patients and those with neurological progression.
Mignarri, A., Magni, A., Del Puppo, M., Gallus, G.N., Björkhem, I., Federico, A., et al. (2015). Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis. JOURNAL OF INHERITED METABOLIC DISEASE [10.1007/s10545-015-9873-1].
Evaluation of cholesterol metabolism in cerebrotendinous xanthomatosis
MIGNARRI, ANDREA;GALLUS, GIAN NICOLA;FEDERICO, ANTONIO;DOTTI, MARIA
2015-01-01
Abstract
Cerebrotendinous xanthomatosis (CTX) is a treatable bile acid disorder caused by mutations of CYP27A1. The pathogenesis of neurological damage has not been completely explained. Oral chenodeoxycholic acid (CDCA) can lead to clinical stabilization, but in a subgroup of patients the disease progresses despite treatment. In the present study, we aimed at clarifying cholesterol metabolism abnormalities and their response to CDCA treatment, in order to identify reliable diagnostic and prognostic markers and understand if differences exist between stable patients and those with neurological progression.
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https://hdl.handle.net/11365/979376
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