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NEUROLOGY 1987;37:708
© 1987 American Academy of Neurology

Diagnosis of familial amyloidotic polyneuropathy

Isolation of variant prealbumin

T. Suzuki, MD, T. Azuma, MD, S. Tsujino, MD, R. Mizuno, MD, S. Kishimoto, MD, Y. Wada, MD, A. Hayashi, MD, S. Ikeda, MD and N. Yanagisawa, MD

Third Department of Internal Medicine (Drs. Suzuki, Azuma, Tsujino, Mizuno, and Kishmoto), Osaka University Hospital, Osaka; the Osaka Medical Center and Research Institute for Maternal and Child Health (Drs. Wada and Hayashi), Izumi, Osaka; and the Department of Medicine (Neurology) (Drs. Ikeda and Yanagisawa), Shinshu University, School of Medicine, Matsumoto, Nagano, Japan.

A novel, small-scale method was developed for detecting carriers of a prealbumin variant associated with type 1 familial amyloidotic polyneuropathy (FAP). Prealbumin isolated from plasma by a two-step preliminary chromatographic procedure was further separated into two peaks by reverse-phase high-performance Iiquid chromatography. The normal and variant prealbumins were identified by secondary ion mass spectrometry. The procedure is relatively simple, reliable, and applicable to the definitive diagnosis of FAP in affected patients and also as a preclinical test for the offspring of patients with FAP.

Address correspondence and reprint requests to Dr. Suzuki, The Third Department of Internal Medicine, Osaka University Hospital, Fukushima-ku, Osaka 553, Japan.

Supported in part by grants for Specific Diseases and for Monitoring Study of Congenital Disorders from the Ministry of Health and Welfare, Japan, and by grants from Shimabara Science Foundation.

Received June 10, 1986. Accepted for publication in final form August 6, 1986.






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