Greenberg S M, Shin Y, Grabowski T J, Cooper G E, Rebeck G W, Iglesias S, Chapon F, Tournier-Lasserve E, Baron J-C
Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA.
Neurology. 2003 Mar 25;60(6):1020-2. doi: 10.1212/01.wnl.0000050140.10044.a8.
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.
作者在一个患有出血性中风、痴呆、白质脑病和枕部钙化的遗传性综合征的西班牙家族中，搜索β-淀粉样前体蛋白中的突变。两名受影响成员的DNA显示出先前被确定为严重淀粉样血管病而非出血性中风病因的爱荷华淀粉样前体蛋白突变。这些数据指向了可能决定淀粉样血管病中症状性出血发生的其他遗传或环境因素。
