Normal-Pressure Hydrocephalus: Is There a Genetic Predisposition?
Normal-Pressure Hydrocephalus: Is There a Genetic Predisposition?
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DOI：
10.1017/s031716710001146x
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发表时间：
2011-03-01
影响因子：
3
通讯作者：
Freedman, M.
中科院分区：
文献类型：
--
作者：
Cusimano, M. D.;Rewilak, D.;Freedman, M.
背景资料：常压脑积水（NPH）的特征是步态障碍、认知障碍、伴或不伴尿失禁、脑室扩大伴或不伴脑萎缩和脑脊液压力正常。研究方法：我们报告了两个姐妹篇与NPH谁住在一起，他们的整个生活，其自然历史可能提供深入了解这种疾病的遗传和环境机制。两名患者都是70岁出头，单身，有相似的日常生活习惯和高血压。没有其他家庭成员患有NPH。结果：他们都接受了分流安置，并表现出改善记录的历史和神经心理学评估。两例患者均显示血管病变导致的延迟恶化。2例患者均为19号染色体上载脂蛋白E（ApoE）e3等位基因纯合子。未发现可能影响NPH发展的环境因素。结论：我们的两个姐妹篇与NPH的报告可能表明存在的遗传易感性和进一步的研究，涉及遗传和环境因素是必要的，以阐明其在NPH的发病机制中的作用。
Background: Normal-pressure hydrocephalus (NPH) is characterized by gait disturbance, cognitive impairment, with or without urinary incontinence, enlarged ventricles with or without cerebral atrophy and normal cerebrospinal fluid pressure. Methods: We report two sisters with NPH who lived together their entire lives and whose natural history might provide insights into genetic and environmental mechanisms underlying this disorder. Both patients were in their early seventies, single, had similar daily habits and hypertension. No other family members had NPH. Results: They both underwent shunt placement and showed improvement documented by history and neuropsychological assessment. Both showed a delayed deterioration due to vasculopathy. Both patients were homozygous for the apolipoprotein E (ApoE) e3 allele on chromosome 19. No environmental factors that might have influenced the development of NPH were identified. Conclusion: Our report of two sisters with NPH may indicate the presence of genetic predisposition and further studies involving genetics and environmental factors are necessary to elucidate their role in the pathogenesis of NPH.