Delacourte A
Unité Inserm 422, Lille.
Ann Biol Clin (Paris). 1998 Mar-Apr;56(2):133-42.
Alzheimer's disease is a neurodegenerative disorder leading to cognitive impairment (amnesia, aphasia, apraxia and agnosia). The prevalence of this age related disabling illness is increasing. During the course of the disease, the clinical diagnosis will be that of "possible Alzheimer's disease", then "probable Alzheimer's disease". But the diagnosis of "definite Alzheimer's disease" requires a post-mortem brain examination and the demonstration of numerous senile plaques and neurofibrillary tangles in hippocampal and association cortical areas. The neuropathological examination confirms probable Alzheimer's disease clinical diagnosis in 85% of the cases examined in medical schools. However, with much more than 15% errors, the early diagnosis of Alzheimer's disease must be improved since it is a key factor for the therapeutic approach, and more especially for the efficiency of drug trials. At the present time, there are new leads for a biological diagnosis in the blood or the CSF. However, the natural (and molecular) history of Alzheimer's disease points out that all biochemical dysfunctions remain in the CNS, and more particularly in association brain areas. This is demonstrated using reliable biochemical markers such as A beta and pathological Tau proteins, which are the basic components of amyloid deposits and neurofibrillary tangles, respectively. Also, a genetic diagnosis can be performed in half of familial autosomic dominant Alzheimer's disease, which represents less than 1% of all Alzheimer's disease cases. Together, this shows that there is a lack of reliable Alzheimer's disease markers. The search for new specific markers (clinical, epidemiological, genetic, biochemical, biological) must go on.
阿尔茨海默病是一种导致认知障碍（失忆、失语、失用症和失认症）的神经退行性疾病。这种与年龄相关的致残性疾病的患病率正在上升。在疾病过程中，临床诊断将从“可能的阿尔茨海默病”发展为“很可能的阿尔茨海默病”。但“确诊的阿尔茨海默病”的诊断需要进行尸检脑部检查，并在海马体和联合皮质区域发现大量老年斑和神经原纤维缠结。神经病理学检查在医学院检查的85%的病例中证实了很可能的阿尔茨海默病的临床诊断。然而，由于错误率超过15%，阿尔茨海默病的早期诊断必须得到改善，因为它是治疗方法的关键因素，尤其是药物试验有效性的关键因素。目前，在血液或脑脊液中进行生物诊断有了新的线索。然而，阿尔茨海默病的自然（和分子）病史表明，所有生化功能障碍都存在于中枢神经系统中，尤其是在联合脑区。这可以通过可靠的生化标志物来证明，如β淀粉样蛋白和病理性 Tau 蛋白，它们分别是淀粉样沉积物和神经原纤维缠结的基本成分。此外，对于不到所有阿尔茨海默病病例1%的家族性常染色体显性阿尔茨海默病，有一半可以进行基因诊断。总之，这表明缺乏可靠 的阿尔茨海默病标志物。寻找新的特异性标志物（临床、流行病学、基因、生化、生物学）的工作必须继续进行。
