Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder of bile acid metabolism which manifests in the form of variable neurological and non-neurological symptoms. Early recognition of the disease leads to a timely implementation of treatment and hence better prognosis. The early diagnosis of CTX depends on a multidisciplinary approach in which radiological imaging plays a pivotal role.
Gene supplementation of CYP27A1 in the liver restores bile acid metabolism in a mouse model of Cerebrotendinous Xanthomatosis
