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Amyloid β Protein Precursor Gene and Hereditary Cerebral Hemorrhage with Amyloidosis (Dutch)
Abstract
Human hereditary cerebral hemorrhage with amyloidosis of the Dutch type (HCHWA-D), an autosomal dominant form of cerebral amyloid angiopathy (CAA), is characterized by extensive amyloid deposition in the small leptomeningeal arteries and cortical arterioles, which lead to an early death of those afflicted in their fifth or sixth decade. Immunohistochemical and biochemical studies have indicated that the amyloid subunit in HCHWA-D is antigenically related to and homologous in sequence with the amyloid β protein isolated from brains of patients with Alzheimer's disease and Down syndrome. The amyloid β protein is encoded by the amyloid β protein precursor (APP) gene located on chromosome 21. Restriction fragment length polymorphisms detected by the APP gene were used to examine whether this gene is a candidate for the genetic defect in HCHWA-D. The data indicate that the APP gene is tightly linked to HCHWA-D and therefore, in contrast to familial Alzheimer's disease, cannot be excluded as the site of mutation in HCHWA-D.
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Metadata
- Authors
- Van Broeckhoven, C., Haan, J., Bakker, E., Hardy, J. A., Van Hul, W., Wehnert, A., Vegter-Van der Vlis, M., & Roos, R. A. C.
- Venue
- Science
- Published
- 1990-06
- Volume
- 248
- Issue
- 4959
- Pages
- 1120-1122
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2081990092
- Cited by
- 473
- References
- 2
- FWCI
- 25.60
- Type
- journal article
- Language
- en
- Open access
- closed
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