Dementia Research Centre, Department of Neurodegenerative Diseases, Box 16, National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Alzheimers Res Ther. 2011 Sep 27;3(5):29. doi: 10.1186/alzrt91.
With the prospect of prevention trials for familial Alzheimer's disease on the horizon, understanding the natural history of the illness has never been so important. Earlier this year in The Lancet Neurology, Acosta-Baena and colleagues published the results of the largest and longest retrospective study of pre-dementia clinical stages in familial Alzheimer's disease to date. By reviewing serial neuropsychological assessments of individuals from a large Colombian kindred affected by the E280A mutation in the Presenilin 1 gene, they defined three stages of pre-dementia cognitive impairment. Using survival analyses, the authors estimated the median age at onset and rate of progression through each of these stages towards dementia and ultimately death. Their study provides valuable insights into the time course of cognitive decline associated with this mutation. Furthermore, the study highlights some of the challenges of defining pre-dementia clinical stages in familial Alzheimer's disease and the need for the field to develop a consistent terminology.
随着针对家族性阿尔茨海默病的预防试验前景在望，了解这种疾病的自然史从未如此重要。今年早些时候，Acosta-Baena 及其同事在《柳叶刀神经病学》上发表了迄今为止最大和最长的家族性阿尔茨海默病痴呆前临床阶段的回顾性研究结果。通过对一个受 Presenilin 1 基因 E280A 突变影响的大型哥伦比亚家族中个体的连续神经心理学评估进行回顾，他们定义了痴呆前认知障碍的三个阶段。作者使用生存分析估计了从中期发病年龄和每个阶段向痴呆最终死亡的进展速度。他们的研究为与该突变相关的认知衰退时间过程提供了有价值的见解。此外，该研究还强调了在家族性阿尔茨海默病中定义痴呆前临床阶段的一些挑战，以及该领域需要制定一致的术语。
