脑淀粉样血管病
血管病
医学
淀粉样蛋白(真菌学)
神经科学
病理
心理学
痴呆
疾病
内分泌学
糖尿病
作者
Peter K. Panegyres,John B. Kwok,Peter R. Schofield,Peter Blumbergs
标识
DOI:10.1016/j.jns.2005.08.002
摘要
A family from the south of Western Australia is described with Dutch cerebral amyloid angiopathy (HCHWA-D). The proband died at age 60 from recurrent lobar haemorrhages in the brain, as did his sister and five other family members. The APP 693 mutation at position 22 of the Abetapeptide resulting in a glutamine for glutamic acid was identified in the proband and the affected sister. Pathologically lobar haemorrhages were found with cerebrovascular angiopathy; neuritic plaques were found but no neurofibrilary tangles. There was a leukoencephalopathy on MRI scanning. Dementia and cognitive decline has not been observed in this family. This is the first family reported outside of Europe and the Northern Hemisphere. The discovery highlights the importance of detecting this rare cause of fatal cerebral haemorrhage as it has implications for gene testing and general medical management.
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