Presenilin-1 polymorphism and hereditary cerebral hemorrhage with amyloidosis, Dutch type

被引:3
作者
Bornebroek, M
Haan, J
Backhovens, H
Deutz, P
VanBuchem, MA
vandenBroeck, M
Bakker, E
Roos, RAC
Van Broeckhoven, C
机构
[1] UNIV LEIDEN HOSP, DEPT DIAGNOST RADIOL, NL-2300 RC LEIDEN, NETHERLANDS
[2] RIJNLAND HOSP, DEPT NEUROL, LEIDERDORP, NETHERLANDS
[3] UNIV ANTWERP, DEPT BIOCHEM, BORN BUNGE FDN, B-2020 ANTWERP, BELGIUM
[4] LEIDEN UNIV, DEPT HUMAN GENET, SYLVIUS LAB, NL-2300 RA LEIDEN, NETHERLANDS
关键词
D O I
10.1002/ana.410420116
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Hereditary cerebral hemorrhage with amyloidosis, Dutch type, caused by a mutation at codon 693 of the amyloid beta precursor protein gene, is characterized by amyloid beta deposition resulting in recurrent strokes and dementia, Recent data suggest that presenilin-1 may be biologically linked to cerebral amyloid beta deposition. The intronic presenilin-1 polymorphism published by Wragg and colleagues (1996) was analyzed in 65 carriers of the hereditary cerebral hemorrhage with amyloidosis, Dutch type, mutation, We found that the presenilin-1 genotype was not correlated with age at first stroke, number of recurrences, dementia, and age at death or with white matter hyperintensities and focal lesions on magnetic resonance images. From our data we conclude that amyloid beta deposition in this disease is most likely not influenced by presenilin-1.
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页码:108 / 110
页数:3
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