Early onset Alzheimer's disease in a South American pedigree from Argentina.
Early onset Alzheimer's disease in a South American pedigree from Argentina.
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来自阿根廷的南美血统的早发性阿尔茨海默病。
DOI：
10.1111/j.1600-0404.1995.tb05835.x
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发表时间：
1995
影响因子：
3.5
通讯作者：
Sica,RE
中科院分区：
文献类型：
--
作者：
Mangone,CA;Castaño,EM;Levy,E;Abiusi,G;Wisniewski,T;Marques,MR;Faccio,E;Gorelick,PB;Frangione,B;Sica,RE
我们报告了南美印第安人背景的阿根廷家系中早发家族性阿尔茨海默病 (FAD) 的临床、SPET、免疫组织化学和 DNA 特征。血统跨越 5 代，包括 110 多名亲缘关系。临床数据支持 10 名家庭成员诊断为早发 FAD（平均发病年龄 38.9 岁），其中 3 名经病理证实（平均死亡年龄 48.5 岁）。传播模式表明常染色体显性遗传。突出的特征是情绪变化、早期语言障碍、肌阵挛、癫痫发作和小脑体征。 SPET 显示早期阶段以及无症状高危成员的双侧额叶、颞顶叶和小脑灌注不足，表明 SPET 可能对该家庭具有预测价值。免疫组织化学显示神经炎斑块和血管壁内有 β 淀粉样蛋白沉积，并且没有抗 PrP 免疫反应性。 DNA分析显示β淀粉样蛋白前体蛋白基因没有异常。在特征明确的独立 FAD 谱系中鉴定其他遗传缺陷将有助于了解阿尔茨海默病的发病机制。
We report the clinical, SPET, immunohistochemical and DNA features of an early‐onset familial Alzheimer's disease (FAD) in an Argentine pedigree of South American indian ethnic background. Pedigree spans 5 generations comprising more than 110 biological relatives. Clinical data supported the diagnosis of early onset FAD (mean age at onset 38.9 years) in 10 family members, including 3 with pathological confirmation (mean age at death 48.5). The pattern of transmission suggested autosomal dominant inheritance. Prominent features were mood changes, early language impairment, myoclonus, seizures and cerebellar signs. SPET displayed bilateral frontal, temporo‐parietal and cerebellar hypoperfusion in early stages and in an asymptomatic member at risk, suggesting that SPET may have predictive value in this family. Immunohistochemistry showed β amyloid deposits within neuritic plaques and vessel walls and no anti‐PrP immunoreactivity. DNA analysis showed no abnormalities in the β amyloid precursor protein gene. The identification of additional genetic defects in well characterized independent FAD pedigrees will contribute to the understanding of the pathogenesis of Alzheimer's disease.