Abstract
CSF amyloid beta-peptide 42 (Abeta42) levels in presymptomatic subjects with pathogenic mutations in the PS1 gene are significantly lower than in an age-matched control group. Consequently, in these subjects, there is a window of opportunity estimated as at least 4 to 12 years to evaluate the ability of any putative prophylactic therapy to decrease, arrest, or reverse abnormalities in Abeta42 metabolism many years before clinical symptoms of Alzheimer disease are otherwise likely to occur.
MeSH terms
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Adult
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Alzheimer Disease / cerebrospinal fluid*
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Alzheimer Disease / diagnosis
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Alzheimer Disease / genetics*
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Amyloid beta-Peptides / cerebrospinal fluid*
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Brain / metabolism*
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Brain / pathology
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Brain / physiopathology
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Cognition Disorders / cerebrospinal fluid*
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Cognition Disorders / diagnosis
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Cognition Disorders / genetics*
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DNA Mutational Analysis
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Disease Progression
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Down-Regulation / physiology
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Family Health
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Female
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Genetic Predisposition to Disease / genetics
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Genetic Testing
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Heterozygote
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Humans
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Male
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Membrane Proteins / genetics
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Middle Aged
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Mutation / genetics
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Peptide Fragments / cerebrospinal fluid*
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Predictive Value of Tests
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Presenilin-1
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tau Proteins / cerebrospinal fluid
Substances
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Amyloid beta-Peptides
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Membrane Proteins
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PSEN1 protein, human
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Peptide Fragments
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Presenilin-1
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amyloid beta-protein (1-42)
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tau Proteins