Bornebroek M, Haan J, Backhovens H, Deutz P, Van Buchem M A, van den Broeck M, Bakker E, Roos R A, Van Broeckhoven C
Department of Neurology, Leiden University Hospital, Netherlands.
Ann Neurol. 1997 Jul;42(1):108-10. doi: 10.1002/ana.410420116.
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.
荷兰型遗传性脑出血伴淀粉样变性，由淀粉样前体蛋白基因第693密码子突变引起，其特征是淀粉样β蛋白沉积导致复发性中风和痴呆。最近的数据表明，早老素-1可能在生物学上与脑淀粉样β蛋白沉积有关。对Wragg及其同事（1996年）发表的内含子早老素-1多态性在65名荷兰型遗传性脑出血伴淀粉样变性突变携带者中进行了分析。我们发现，早老素-1基因型与首次中风年龄、复发次数、痴呆、死亡年龄或磁共振图像上的白质高信号和局灶性病变均无相关性。根据我们的数据，我们得出结论，该疾病中的淀粉样β蛋白沉积很可能不受早老素-1的影响。
