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| A MUTATION IN THE AMYLOID PRECURSOR PROTEIN ASSOCIATED WITH HEREDITARY ALZHEIMERS-DISEASE |
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| Author(s): MURRELL J, FARLOW M, GHETTI B, BENSON MD |
| Source: SCIENCE Volume: 254 Issue: 5028 Pages: 97-99 Published: OCT 4 1991 |
| Times Cited: 761 References: 28 |
| Abstract: Alzheimer's disease is a form of localized amyloidosis characterized by cerebral cortical amyloid plaques, neurofibrillary tangles, and amyloid deposits within the walls of leptomeningeal vessels. Although most cases of Alzheimer's disease are sporadic, kindreds with autosomal-dominant inheritance of the syndrome suggest that a single mutation may be important in pathogenesis. Direct sequencing of DNA from a family with autopsy-proven Alzheimer's disease revealed a single amino acid substitution (Phe for Val) in the transmembrane domain of the amyloid precursor protein. This mutation correlates with the presence of Alzheimer's disease in all patients in this study, and may be the inherited factor causing both amyloid fibril formation and dementia. |
| Document Type: Article |
| Language: English |
Addresses:
1. INDIANA UNIV, SCH MED, DEPT MED, INDIANAPOLIS, IN 46202 USA
2. INDIANA UNIV, SCH MED, DEPT MED & MOLEC GENET, INDIANAPOLIS, IN 46202 USA
3. INDIANA UNIV, SCH MED, DEPT NEUROL, INDIANAPOLIS, IN 46202 USA
4. INDIANA UNIV, SCH MED, DEPT PATHOL, INDIANAPOLIS, IN 46202 USA
5. VET AFFAIRS RICHARD L ROUDEBUSH MED CTR, INDIANAPOLIS, IN 46202 USA |
| Publisher: AMER ASSOC ADVANCEMENT SCIENCE, 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 |
| Subject Category: Multidisciplinary Sciences |
| IDS Number: GH605 |
| ISSN: 0036-8075 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |