Abstract
The authors describe a 28-year-old woman with histopathologically confirmed early onset Alzheimer disease characterized by severe frontal lobe involvement associated with a de novo mutation in the presenilin 1 gene (PSEN1).
MeSH terms
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Adult
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Alzheimer Disease / diagnosis*
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Alzheimer Disease / genetics*
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Alzheimer Disease / pathology
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Amino Acid Substitution
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DNA Mutational Analysis
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Disease Progression
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Fatal Outcome
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Female
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Frontal Lobe / pathology
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Humans
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Magnetic Resonance Imaging
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Membrane Proteins / genetics*
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Mutation*
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Neurofibrillary Tangles / pathology
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Neuropsychological Tests
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Parietal Lobe / pathology
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Plaque, Amyloid / pathology
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Presenilin-1
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Temporal Lobe / pathology
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Tomography, Emission-Computed, Single-Photon
Substances
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Membrane Proteins
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PSEN1 protein, human
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Presenilin-1