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Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I

From the Department of Human Genetics (Drs. Finckh and Gal), University Hospital Eppendorf, Hamburg, Germany; IRCCS Centro S. Giovanni di Dio (Drs. Alberici, Benussi, and Binetti), Neurobiology Laboratory, Brescia, Italy; the Geriatric Division (Drs. Antoniazzi and Fedi), Motta di Livenza Hospital, Treviso, Italy; the Neuropathology Division (Dr. Giannini), Treviso Hospital, Treviso, Italy; and the Department of Psychiatry Research (Dr. Nitsch), University of Zurich, Switzerland.

Address correspondence and reprint requests to Dr. Ulrich Finckh, Department of Human Genetics, Universitäts-Krankenhaus Eppendorf, Butenfeld 42, 22529 Hamburg, Germany; e-mail: finckh{at}uke.uni-hamburg.de

In a family with autopsy-confirmed Alzheimer disease, the authors found a mutation in the presenilin 2 (PS2) gene (PSEN2) that predicts a methionine-to-isoleucine change at PS2 residue 239 (M239I), at which a change to valine was known in another family. Phenotypic expression of M239I was highly variable, with disease onset between age 44 and 58 years, and two nonaffected mutation carriers at age 58 and 68 years. The data showed no influence of APOE but were compatible with other possible genetic modifiers of the phenotype or penetrance of M239I.

Key words: Alzheimer disease—Presenilin 2—Mutation—Phenotype variability—M239I—PSEN2—PS2.

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