Abstract
We describe the kindred of Alois Alzheimer's second published patient (Johann F.) with the brain pathology typical of a subgroup of Alzheimer disease called "plaque-only type." The genealogic records of the kindred extend back to 1670. We constructed a family tree of 1403 individuals and identified 4 living demented members of the Johann F. kindred. The pedigree is consistent with an autosomal dominant trait. The analyses of known dominant dementia genes (APP, PS1, PS2, PRNP, and BRI) failed to reveal mutations in the proband. Further examination of this family might yield new insights into the genetics of Alzheimer disease.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Adaptor Proteins, Signal Transducing
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Aged
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Aged, 80 and over
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Alzheimer Disease / genetics*
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Alzheimer Disease / pathology*
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Amyloid / genetics
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Amyloid beta-Protein Precursor / genetics
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Brain / pathology*
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DNA Mutational Analysis
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Female
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Humans
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Male
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Membrane Glycoproteins
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Membrane Proteins
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Pedigree
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Plaque, Amyloid / pathology*
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Presenilin-1 / genetics
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Presenilin-2 / genetics
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Prion Proteins
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Prions / genetics
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Protease Nexins
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Receptors, Cell Surface / genetics
Substances
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APP protein, human
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Adaptor Proteins, Signal Transducing
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Amyloid
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Amyloid beta-Protein Precursor
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ITM2B protein, human
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Membrane Glycoproteins
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Membrane Proteins
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PRNP 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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Prion Proteins
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Prions
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Protease Nexins
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Receptors, Cell Surface