Haan J, Roos R A
Department of Neurology, University Hospital, Leiden, The Netherlands.
Clin Neurol Neurosurg. 1992;94 Suppl:S82-3. doi: 10.1016/0303-8467(92)90031-w.
Hereditary cerebral amyloid angiopathy has been described in Icelandic and Dutch families. Although the clinical manifestations show similarities, biochemical characterization revealed that amyloid in the Icelandic patients consists of cystatin C and in the Dutch patients of beta-protein. Both diseases are caused by a single base mutation leading to the same amino acid (viz. glutamine). Furthermore, both cystatin C and the beta-protein precursor are protease inhibitors. Therefore, the mechanism of amyloidogenesis may be similar in both diseases. A comparison of clinical, pathological, genetic, and biochemical aspects of these two types of hereditary cerebral amyloid angiopathy is presented.
遗传性脑淀粉样血管病已在冰岛和荷兰家族中被描述。尽管临床表现有相似之处，但生化特征显示冰岛患者的淀粉样蛋白由胱抑素C组成，而荷兰患者的由β蛋白组成。两种疾病均由单个碱基突变导致相同氨基酸（即谷氨酰胺）引起。此外，胱抑素C和β蛋白前体都是蛋白酶抑制剂。因此，两种疾病的淀粉样蛋白生成机制可能相似。本文对这两种遗传性脑淀粉样血管病的临床、病理、遗传和生化方面进行了比较。
