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(Stroke. 1997;28:2219-2221.)
© 1997 American Heart Association, Inc.

Articles

Association of Presenilin-1 Polymorphism With Cerebral Amyloid Angiopathy in the Elderly

Masahito Yamada, MD; Nobuyuki Sodeyama, MD; Yoshinori Itoh, MD; Naomi Suematsu, MD; Eiichi Otomo, MD; Masaaki Matsushita, MD; Hidehiro Mizusawa, MD

From the Department of Neurology, Tokyo Medical and Dental University (M.Y., N. Sodeyama, H.M.); Departments of Internal Medicine (Y.I., E.O.) and Pathology (N. Suematsu), Yokufukai Geriatric Hospital; and Department of Psychiatry, University of Tokyo (M.M.), Tokyo, Japan.

Correspondence to Dr Masahito Yamada, Department of Neurology, Tokyo Medical and Dental University, 1-5-45, Yushima, Bunkyo-ku, Tokyo 113, Japan. E-mail m-yamada.nuro{at}med.tmd.ac.jp

Background and Purpose An intronic polymorphism of presenilin-1 (PS-1), a gene responsible for early-onset familial Alzheimer's disease, has been reported to be associated with late-onset sporadic Alzheimer's disease. In a search for a genetic risk factor of sporadic cerebral amyloid angiopathy (CAA), we investigated the association of the polymorphism of PS-1 with CAA.

Methods The association between the severity of CAA and genotypes of a polymorphism in intron 8 of PS-1 was investigated in 137 autopsy cases of the elderly.

Results A significant decrease of PS-1 2/2 genotype frequency was associated with severe or moderate CAA.

Conclusions Our results suggest that PS-1 intronic polymorphism may be associated with the severity of CAA in the elderly.

Key Words: Alzheimer's disease • amyloid • elderly • polymorphism (genetics)

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