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

Ulrich Finckh; A. Alberici; M. Antoniazzi; L. Benussi; V. Fedi; C. Giannini; A. Gal; R. M. Nitsch; G. Binetti

doi:10.1212/WNL.54.10.2006

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

Ulrich Finckh, A. Alberici, M. Antoniazzi, L. Benussi, V. Fedi, C. Giannini, A. Gal, R. M. Nitsch, G. Binetti

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

51 Scopus citations

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 M2391 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.

Original language	English (US)
Pages (from-to)	2006-2008
Number of pages	3
Journal	Neurology
Volume	54
Issue number	10
DOIs	https://doi.org/10.1212/WNL.54.10.2006
State	Published - May 23 2000

Keywords

Alzheimer disease
M239I
Mutation
PS2
PSEN2
Phenotype variability
Presenilin 2

ASJC Scopus subject areas

Clinical Neurology

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10.1212/WNL.54.10.2006

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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 M2391 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.",

keywords = "Alzheimer disease, M239I, Mutation, PS2, PSEN2, Phenotype variability, Presenilin 2",

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T1 - Variable expression of familial Alzheimer disease associated with presenilin 2 mutation M239I

AU - Finckh, Ulrich

AU - Alberici, A.

AU - Antoniazzi, M.

AU - Benussi, L.

AU - Fedi, V.

AU - Giannini, C.

AU - Gal, A.

AU - Nitsch, R. M.

AU - Binetti, G.

PY - 2000/5/23

Y1 - 2000/5/23

N2 - 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 M2391 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.

AB - 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 M2391 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.

KW - Alzheimer disease

KW - M239I

KW - Mutation

KW - PS2

KW - PSEN2

KW - Phenotype variability

KW - Presenilin 2

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

Abstract

Keywords

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