Cerebrotendinous xanthomatosis (CTX) is a neurometabolic genetic disorder seldom described in Brazil and other South American countries. This chapter outlines the clinical practice and research related to CTX in Brazil, tracing its history from the first cases reported in the 1984 to recent developments in diagnosis, treatment, participation in clinical trials and challenges in access to medication. The genetic basis of CTX and its association with hereditary spastic paraplegia are explored, highlighting the shift from biochemical to molecular testing for diagnosis in the country. The clinical manifestations, neuroimaging findings, and progression of CTX in a large cohort of Brazilian patients are detailed, along with the challenges in accessing chenodeoxycholic acid treatment due to regulatory and financial barriers. This chapter emphasizes the need for expanded diagnostic capabilities, improved access to treatment, and sustainable solutions for effective CTX management in Brazil.