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  1. Article

    Open Access

    A double CYP27A1 gene mutation in spinal cerebrotendinous xanthomatosis in a patient presenting with spastic gait: a case report

    Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare inherited metabolic disease caused by the mutation in the CYP27A1 gene. Spinal CTX is a rare clinical subgroup of CTX which lacks typical symptoms seen...

    Je Hong Min, Yoon Seob Kim, Myeong ** Son, In Soo Joo in Journal of Medical Case Reports (2024)

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