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May 23, 2000; 54 (10) Brief Communications

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

U. Finckh, A. Alberici, M. Antoniazzi, L. Benussi, V. Fedi, C. Giannini, A. Gal, R.M. Nitsch, G. Binetti
First published May 23, 2000, DOI: https://doi.org/10.1212/WNL.54.10.2006
U. Finckh
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.
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A. Alberici
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.
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M. Antoniazzi
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.
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L. Benussi
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.
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V. Fedi
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.
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C. Giannini
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.
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A. Gal
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.
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R.M. Nitsch
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.
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G. Binetti
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.
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Full PDF
Citation
Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I
U. Finckh, A. Alberici, M. Antoniazzi, L. Benussi, V. Fedi, C. Giannini, A. Gal, R.M. Nitsch, G. Binetti
Neurology May 2000, 54 (10) 2006-2008; DOI: 10.1212/WNL.54.10.2006

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Abstract

Article abstract 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.

  • Received June 25, 1999.
  • Accepted in final form January 18, 2000.
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