Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation

Suzanne Granhøj Lindquist; Jørgen Erik Nielsen; Jette Stokholm; Marianne Schwartz; Mustafa Batbayli; Martin Ballegaard; Jesper Erdal; Katja Krabbe; Gunhild Waldemar

doi:10.1016/j.jns.2007.11.021

Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation

Suzanne Granhøj Lindquist, Jørgen Erik Nielsen, Jette Stokholm, Marianne Schwartz, Mustafa Batbayli, Martin Ballegaard, Jesper Erdal, Katja Krabbe, Gunhild Waldemar

21 Citations (Scopus)

Abstract

Approximately 1% of all cases of Alzheimer's disease are inherited autosomal dominantly, and to date, three causative genes have been found, the Presenilin 1 (PSEN1) gene, the Presenilin 2 (PSEN2) gene and the Amyloid precursor protein (APP) gene. We describe atypical phenotypic features in a family with a pathogenic APP gene mutation and discuss possible explanations for these atypical features.

Original language	English
Journal	Journal of the Neurological Sciences
Volume	268
Issue number	1-2
Pages (from-to)	124-30
Number of pages	7
ISSN	0022-510X
DOIs	https://doi.org/10.1016/j.jns.2007.11.021
Publication status	Published - 2008

Keywords

Alanine
Alzheimer Disease
Amyloid beta-Peptides
Amyloid beta-Protein Precursor
Blood Pressure
DNA Mutational Analysis
Electroencephalography
Family Health
Humans
Iran
Magnetic Resonance Imaging
Male
Middle Aged
Mutation
Peptide Fragments
Threonine

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10.1016/j.jns.2007.11.021

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title = "Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation",

abstract = "Approximately 1\% of all cases of Alzheimer's disease are inherited autosomal dominantly, and to date, three causative genes have been found, the Presenilin 1 (PSEN1) gene, the Presenilin 2 (PSEN2) gene and the Amyloid precursor protein (APP) gene. We describe atypical phenotypic features in a family with a pathogenic APP gene mutation and discuss possible explanations for these atypical features.",

keywords = "Alanine, Alzheimer Disease, Amyloid beta-Peptides, Amyloid beta-Protein Precursor, Blood Pressure, DNA Mutational Analysis, Electroencephalography, Family Health, Humans, Iran, Magnetic Resonance Imaging, Male, Middle Aged, Mutation, Peptide Fragments, Threonine",

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language = "English",

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T1 - Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation

AU - Lindquist, Suzanne Granhøj

AU - Nielsen, Jørgen Erik

AU - Stokholm, Jette

AU - Schwartz, Marianne

AU - Batbayli, Mustafa

AU - Ballegaard, Martin

AU - Erdal, Jesper

AU - Krabbe, Katja

AU - Waldemar, Gunhild

PY - 2008

Y1 - 2008

N2 - Approximately 1% of all cases of Alzheimer's disease are inherited autosomal dominantly, and to date, three causative genes have been found, the Presenilin 1 (PSEN1) gene, the Presenilin 2 (PSEN2) gene and the Amyloid precursor protein (APP) gene. We describe atypical phenotypic features in a family with a pathogenic APP gene mutation and discuss possible explanations for these atypical features.

AB - Approximately 1% of all cases of Alzheimer's disease are inherited autosomal dominantly, and to date, three causative genes have been found, the Presenilin 1 (PSEN1) gene, the Presenilin 2 (PSEN2) gene and the Amyloid precursor protein (APP) gene. We describe atypical phenotypic features in a family with a pathogenic APP gene mutation and discuss possible explanations for these atypical features.

KW - Alanine

KW - Alzheimer Disease

KW - Amyloid beta-Peptides

KW - Amyloid beta-Protein Precursor

KW - Blood Pressure

KW - DNA Mutational Analysis

KW - Electroencephalography

KW - Family Health

KW - Humans

KW - Iran

KW - Magnetic Resonance Imaging

KW - Male

KW - Middle Aged

KW - Mutation

KW - Peptide Fragments

KW - Threonine

UR - https://www.scopus.com/pages/publications/40849116359

U2 - 10.1016/j.jns.2007.11.021

DO - 10.1016/j.jns.2007.11.021

M3 - Journal article

C2 - 18187157

SN - 0022-510X

VL - 268

SP - 124

EP - 130

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

IS - 1-2

ER -

Atypical early-onset Alzheimer's disease caused by the Iranian APP mutation

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Keywords

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