Katzman R, Galasko D, Saitoh T, Thal L J, Hansen L
Department of Neurosciences, University of California, San Diego, USA.
Brain Cogn. 1995 Aug;28(3):259-65. doi: 10.1006/brcg.1995.1256.
Lewy Body Variant (LBV) patients present as Alzheimer's disease (AD) clinically; about two-thirds also have mild extrapyramidal features. At autopsy, neocortical and brain stem Lewy bodies are present in addition to changes diagnostic of AD. We have found that the Apolipoprotein E4 allele is a major genetic risk factor for LBV as it is for "pure AD," in contrast to subjects with diffuse Lewy body disease or Parkinson's disease. This genetic evidence supports the concept that LBV--the second most common neurodegenerative form of dementia--is a phenotypic variant of AD.
路易体变异型（LBV）患者临床上表现为阿尔茨海默病（AD）；约三分之二的患者还具有轻度锥体外系特征。尸检时，除了AD的诊断性改变外，还存在新皮质和脑干路易体。我们发现，载脂蛋白E4等位基因是LBV的主要遗传风险因素，就像它是“纯AD”的主要遗传风险因素一样，这与弥漫性路易体病或帕金森病患者不同。这一遗传学证据支持了LBV（第二常见的神经退行性痴呆形式）是AD的一种表型变异的概念。
