Dichterbij, Center for the Intellectually Disabled, Gennep, The Netherlands.
Neurobiol Aging. 2012 Sep;33(9):1988-94. doi: 10.1016/j.neurobiolaging.2011.08.007. Epub 2011 Sep 29.
Extracellular deposition of amyloid beta peptide (Aβ) has been implicated as a critical step in the pathogenesis of Alzheimer's disease (AD). In Down syndrome (DS), Alzheimer's disease is assumed to be caused by the triplication and overexpression of the gene for amyloid precursor protein (APP), located on chromosome 21. Plasma concentrations of Aβ1-40 and Aβ1-42 were determined in a population based study of 506 persons with DS, who were screened annually for dementia. We used Cox proportional hazards models to determine the risk of dementia. Demented persons with DS have a significantly higher plasma Aβ1-40 concentration than the nondemented (p = 0.05). Those with the highest concentrations of Aβ1-40 and Aβ1-42 have a higher risk to develop dementia. The risk to develop dementia during follow-up (mean 4.7 years) increased to 2.56 (95% confidence interval, 1.39-4.71) for Aβ1-42 and 2.16 (95% confidence interval, 1.14-4.10) for Aβ1-40. High plasma concentration of plasma Aβ1-40 and Aβ1-42 are determinants of the risk of dementia in persons with DS.
细胞外淀粉样β肽（Aβ）的沉积被认为是阿尔茨海默病（AD）发病机制中的关键步骤。在唐氏综合征（DS）中，阿尔茨海默病被认为是由于位于 21 号染色体上的淀粉样前体蛋白（APP）基因的三倍体和过表达引起的。我们使用 Cox 比例风险模型来确定痴呆的风险。与非痴呆者相比，患有 DS 的痴呆者的血浆 Aβ1-40 浓度明显更高（p=0.05）。那些具有最高 Aβ1-40 和 Aβ1-42 浓度的人患痴呆的风险更高。在随访期间（平均 4.7 年），Aβ1-42 的风险增加到 2.56（95%置信区间，1.39-4.71），Aβ1-40 的风险增加到 2.16（95%置信区间，1.14-4.10）。高血浆 Aβ1-40 和 Aβ1-42 浓度是 DS 患者痴呆风险的决定因素。
