Furthermore, a case report in 2023 of a 60-year-old female presented with alterations in behavior and personality, hyperlipidemia, and elevated serum levels of cholestanol (12.4 mg/L; normal value ≤ 6.0), and, when undergoing genetic testing, revealed a pathogenic variant in the CYP27A1 gene, suggesting a diagnosis of CTX [123]. Here, CYP27A1 is linked to cerebrotendinous xanthomatosis.