遗传性脑出血合并淀粉样变与APP E693K突变相关
文章的细节
-
引用
复制到剪贴板 -
Bugiani O, Giaccone G, Rossi G, Mangieri M, Capobianco R, Morbin M, Mazzoleni G, Cupidi C, Marcon G, Giovagnoli A, Bizzi A, Di Fede G, Puoti G, Carella F, Salmaggi A, Romorini A, Patruno GM, Magoni M, paadovani A, Tagliavini F
遗传性脑出血合并淀粉样变与APP E693K突变相关
神经弓科学，2010年8月;67(8):987-95。doi: 10.1001 / archneurol.2010.178。
- PubMed ID
-
20697050 (PubMed视图］
- 摘要
-
目的:报道与APP E693K突变相关的遗传性淀粉样变脑出血患者的临床、遗传学、神经影像学和神经病理学研究。设计:外壳系列。通过直接评估和既往病历收集临床细节和实验室结果。对几名受影响的受试者和健康个体进行了DNA分析。2例进行神经病理检查。周边地区:意大利伦巴第南部。4个不相关的意大利家族中有或没有淀粉样变的个体(N = 37)。主要观察指标基因型-表型关系。结果:受影响的个体表现为反复头痛和多次中风，其次是癫痫和大多数人的认知能力下降。该疾病具有常染色体显性遗传特征，并与APP E693K突变分离。 Neuroimaging demonstrated small to large hematomas, subarachnoid bleeding, scars with hemosiderin deposits, small infarcts, and leukoaraiosis. Amyloid-beta immunoreactivity was detected in the wall of leptomeningeal and parenchymal vessels and in the neuropil, whereas phosphorylated tau, neurofibrillary changes, and neuritic plaques were absent. CONCLUSIONS: These findings expand the number of APP mutations linked to hereditary cerebral hemorrhage with amyloidosis, reinforcing the link between this phenotype and codon 693 of APP.