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Genetic analysis enables definite and rapid diagnosis of cerebrotendinous xanthomatosis

From the Department of Physiological Chemistry and Metabolism (Drs. Chen, Kubota, and Seyama), Graduate School of Medicine, The University of Tokyo; First Department of Internal Medicine (Dr. Teramoto), Faculty of Medicine, Teikyo University, Tokyo; First Department of Internal Medicine(Drs. Ishida and Ohsawa), Osaka Medical College, Takatsuki; First Department of Internal Medicine (Drs. Katayama, Takeda, Kuroda, and Yahara), Asahikawa Medical College, Asahikawa; and the Department of Internal Neurology (Drs. Kusuhara and Neshige), Yanagawa Rehabilitation Hospital, Fukuoka, Japan.

Address correspondence and reprint requests to Dr. Yousuke Seyama, Department of Physiological Chemistry and Metabolism, Graduate School of Medicine, The University of Tokyo, Tokyo 113-0033, Japan.

Mutations in the sterol 27-hydroxylase gene (CYP27) cause cerebrotendinous xanthomatosis (CTX). Early diagnosis of CTX is crucial because treatment with chenodeoxycholic acid can prevent or reverse some of the neurologic disability associated with the disease. We report the identification of three types of mutations (Arg⁴⁴¹Trp, Arg³⁷²Gln, and Arg⁴⁴¹Gln) in the CYP27 gene in five patients with suspected CTX from four unrelated families by restriction endonuclease analysis.

Supported by the Ministry of Education, Science, Sports and Culture, International Scientific Research Program (09470039), and the Mitsui Life Social Welfare Foundation, Japan.

Received January 12, 1998. Accepted in final form April 24, 1998.

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