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阿尔茨海默病痴呆症相关基因。

Genes for Alzheimer Dementia.

作者信息

Theuns J, Van Broeckhoven C

出版信息

Acta Neuropsychiatr. 1999 Jun;11(2):60-2. doi: 10.1017/S0924270800036176.

Abstract

Alzheimer disease (AD), the most common form of dementia in the elderly, is rapidly becoming a major health problem in developed countries where the number of elderly people continuously grows due to improved medical care. Consequently, the number of AD patients is increasing and thus far no effective therapies are available. Clinically the disease can be diagnosed with 90% reliability on the basis of neurological examination, neuropsychological testing and brain imaging techniques. A definite diagnosis, however, requires the post-mortem detection of senile plaques (SPs) and neurofibrillary tangles (NFTs) in the brain. The SPs are extracellular deposits mainly composed of amyloid P (Ap) surrounded by dystrophic neurites. NFT are intraneural inclusions of paired helical filaments composed of hyperphosphorylated tau. Although age is the major risk factor for AD, population survey and family studies have provided substantial evidence that genetic factors are major contributors to the expression of AD.

摘要

阿尔茨海默病(AD)是老年人中最常见的痴呆形式,在发达国家正迅速成为一个主要的健康问题,在这些国家,由于医疗保健的改善,老年人数量持续增长。因此,AD患者的数量在增加,而迄今为止尚无有效的治疗方法。临床上,根据神经学检查、神经心理学测试和脑成像技术,该疾病的诊断可靠性可达90%。然而,明确诊断需要在死后检测大脑中的老年斑(SPs)和神经原纤维缠结(NFTs)。SPs是细胞外沉积物,主要由淀粉样蛋白P(Ap)组成,周围有营养不良的神经突。NFT是由过度磷酸化的tau组成的双螺旋丝的神经内包涵体。虽然年龄是AD的主要风险因素,但人群调查和家族研究提供了大量证据表明遗传因素是AD表达的主要促成因素。

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