Stopford Cheryl L, Snowden Julie S, Thompson Jennifer C, Neary David
Cerebral Function Unit, Greater Manchester Neuroscience Centre, Salford Royal Hospital NHS Foundation Trust, Salford, UK.
Cortex. 2008 Feb;44(2):185-95. doi: 10.1016/j.cortex.2005.11.002. Epub 2007 Nov 17.
The aim of the present study was to explore the nature and prevalence of phenotypic variations in Alzheimer's disease (AD). Neuropsychological profiles of a large cross-sectional cohort of patients with a clinical diagnosis of the disease were examined. All tests distinguished the AD group from controls confirming their sensitivity to the presence of early AD. Factor analysis of test scores revealed five factors, reflecting the discrete cognitive domains of memory, language, perceptuospatial abilities, executive skills, and praxis. Cluster analysis revealed distinct performance profiles that could not be accounted for by disease severity. Some patients showed an accentuation of memory impairment relative to other domains, whereas others showed relative sparing. Cognitive deficits other than memory were the salient presenting feature in a relatively high proportion of patients. A subset of the cohort (22%) showed grossly disproportionate impairments in one cognitive domain. The findings emphasise variability in presentation and indicate that distinct phenotypic variations appear to lie on a continuum rather than representing discrete forms of disease.
本研究的目的是探索阿尔茨海默病(AD)表型变异的本质和患病率。对一大组临床诊断为该病的患者进行了神经心理学剖析。所有测试都能将AD组与对照组区分开来,证实了它们对早期AD存在的敏感性。对测试分数进行因子分析,揭示了五个因子,反映了记忆、语言、感知空间能力、执行技能和实践等不同的认知领域。聚类分析揭示了无法用疾病严重程度来解释的不同表现特征。一些患者相对于其他领域表现出记忆障碍的加重,而另一些患者则表现出相对较轻的记忆障碍。在相当比例的患者中,除记忆外的认知缺陷是突出的表现特征。该队列中的一个子集(22%)在一个认知领域表现出严重不成比例的损伤。这些发现强调了临床表现的变异性,并表明不同的表型变异似乎处于一个连续体上,而不是代表离散的疾病形式。