Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu)
Recurrent subarachnoid hemorrhage associated with a new transthyretin variant (Gly53Glu)
复制标题
DOI：
10.1212/wnl.57.1.135
复制
发表时间：
2001-07-10
期刊：
影响因子：
9.9
通讯作者：
Valleix, S
中科院分区：
文献类型：
--
作者：
Ellie, E;Camou, F;Valleix, S
由于转甲状腺素蛋白 (TTR) 突变导致的系统性淀粉样变性中枢神经系统受累很少见，表现为痴呆、癫痫发作和脊髓病的组合。作者报告了两个法国兄弟姐妹的主要临床特征是复发性蛛网膜下腔出血。脑标本显示，软脑膜血管壁因淀粉样蛋白沉积物而增厚，TTR 外显子测序显示，杂合单碱基对从 G 转变为 A（密码子 53），导致谷氨酸被甘氨酸取代（G53E）。
CNS involvement is rare in systemic amyloidoses due to transthyretin (TTR) mutation and manifests as a combination of dementia, seizures, and myelopathy. The authors report two French siblings who experienced recurrent subarachnoid hemorrhages as the main clinical feature. Brain specimens showed that the leptomeningeal vessels walls were thickened by amyloid deposits, and sequencing of the TTR exons showed a heterozygous single base-pair transition from G to A (codon 53), resulting in a glycine for glutamic acid substitution (G53E).