Abstract
Mutations have been found in more than a hundred early-onset families with Alzheimer's disease (AD) in the genes for the amyloid precursor protein, presenilin 1 and presenilin 2. The object of our investigation was to identify if these mutations or novel ones were operating in a Swiss early-onset AD family (mean age of onset: 53.3 years) with 7 members available, all neuropathologically confirmed. No known or new mutations were detected. Thus, our data support the existence of a yet unknown mutation, or other genes, contributing to familial early-onset AD. CopyrightCopyright 1999S.KargerAG,Basel
Publication types
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Clinical Trial
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Research Support, Non-U.S. Gov't
MeSH terms
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Adult
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Age of Onset
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Aged
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Alzheimer Disease / genetics*
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Alzheimer Disease / metabolism
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Alzheimer Disease / psychology
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Amyloid beta-Protein Precursor / genetics*
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DNA / genetics
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DNA Primers
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Exons / genetics
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Female
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Genes, Dominant / genetics*
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Humans
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Immunohistochemistry
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Male
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Membrane Proteins / genetics*
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Middle Aged
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Pedigree
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Presenilin-1
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Presenilin-2
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Psychiatric Status Rating Scales
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Reverse Transcriptase Polymerase Chain Reaction
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Switzerland
Substances
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Amyloid beta-Protein Precursor
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DNA Primers
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Membrane Proteins
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PSEN1 protein, human
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PSEN2 protein, human
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Presenilin-1
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Presenilin-2
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DNA