The Dementia of Down's Syndrome and its Relevance to Aetiological Studies of Alzheimer's Disease
The Dementia of Down's Syndrome and its Relevance to Aetiological Studies of Alzheimer's Disease
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唐氏综合症痴呆及其与阿尔茨海默病病因学研究的相关性
DOI：
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发表时间：
1982
影响因子：
5.2
通讯作者：
L. Whalley
中科院分区：
文献类型：
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作者：
L. Whalley
LOIS ALZHEIMER描述了一种痴呆症的形式，在这种痴呆症中，记忆力逐渐衰退与皮层萎缩、神经元丧失、老年斑等神经病理变化有关；还有神经原纤维缠结。这些变化的病因尚不清楚，但它们被认为是老年人衰弱和过早死亡的主要原因（65岁以上的人中约有六分之一受影响，但45-64岁的人中只有千分之一受影响）。有证据表明遗传因素可能在阿尔茨海默型痴呆（DAT）的发病机制中起重要作用。对阿尔茨海默病患者的家庭研究表明，患病患者的一级亲属患该疾病的风险增加1，很少有报道称，该疾病的发病率与常染色体显性基因的影响相一致。许多35岁以后死亡的唐氏综合症患者的大脑中也会出现阿尔茨海默氏症的典型神经病理变化这些变化在其他形式的智力障碍中并不常见，并且与中年唐氏综合征患者的许多老年性痴呆临床特征有关。表1给出了唐氏综合征神经病理学研究的文献调查，包括爱丁堡大学神经病理学系Maloney博士检查的19例唐氏患者。阿尔茨海默病的神经病理变化似乎难以区分，无论是发生在唐氏综合征还是在一般人群中。Electronmicro -
LOIS ALZHEIMER described a form of dementia in which gradually A failing memory was associated with neuropathological changes of cortical shrinkage, neuronal loss, senile plaques; and neurofibrillary tangles. The aetiology of these changes remains unknown, but they are recognized as a major cause of debility and premature death in the elderly (affecting about 1 in 6 of those over 65, but only 1 in 1000 of those aged 45-64). There is some evidence that genetic factors may be important in the pathogenesis of dementia of the Alzheimer type (DAT). Family studies of patients with Alzheimer’s disease suggest an increased risk of developing the disorder in first degree relatives of affected subjects1 and there are infrequent reports of families in whom the incidence of the disorder is compatible with the effects of an autosomal dominant gene.* Alzheimer’s typical neuropathological changes also occur in the brains of many patients with Down‘s syndrome dying after the age of 35 years.3 These changes are uncommon in other forms of mental handicap and are associated with many of the clinical features of presenile dementia in middle-aged patients with Down’s syndrome.‘ TABLE 1 presents a literature survey of neuropathological studies in Down’s syndrome and includes 19 Down’s patients examined by Dr. Maloney of the Department of Neuropathology, University of Edinburgh. The neuropathological changes of Alzheimer‘s disease appear indistinguishable whether they occur in Down’s syndrome or in the general population. Electronmicro-