Abstract
The authors searched for mutations in the beta-amyloid precursor protein in a Spanish family with a hereditary syndrome of hemorrhagic stroke, dementia, leukoencephalopathy, and occipital calcifications. DNA from two affected members demonstrated the Iowa amyloid precursor protein mutation previously identified as a cause of severe amyloid angiopathy without hemorrhagic stroke. These data point to other genetic or environmental factors that may determine the occurrence of symptomatic hemorrhage in amyloid angiopathy.
Publication types
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Comparative Study
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Age of Onset
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Aged
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Amino Acid Substitution
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Amyloid beta-Protein Precursor / genetics*
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Calcinosis / etiology
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Carotid Artery, External / pathology
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Cerebral Amyloid Angiopathy, Familial / complications*
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Cerebral Amyloid Angiopathy, Familial / epidemiology
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Cerebral Amyloid Angiopathy, Familial / genetics
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Cerebral Hemorrhage / etiology*
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Codon / genetics
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Disease Progression
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Humans
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Iowa
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Male
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Middle Aged
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Occipital Lobe / pathology
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Spain / epidemiology
Substances
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Amyloid beta-Protein Precursor
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Codon