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什么是“早发性痴呆症”?

What is 'early onset dementia'?

作者信息

Miyoshi Koho

机构信息

Jinmeikai Research Institute for Mental Health, Nishinomiya, Hyogo, Japan.

出版信息

Psychogeriatrics. 2009 Jun;9(2):67-72. doi: 10.1111/j.1479-8301.2009.00274.x.

Abstract

There are two types of dementia with early onset: (i) presenile dementias; and (ii) senile dementias with early onset. Most patients who develop dementia before 65 years of age have Alzheimer's disease (AD). The remainder are likely to have vascular dementia (VaD), frontotemporal dementia, head injury, alcohol intoxication, or metabolic disorder. Presenile dementias, caused by frontotemporal lobar degeneration, progressive supranuclear palsy, and corticobasal degeneration, usually occur in patients of presenile and are rarely seen in patients of senile age. Although the factors responsible for the accelerated onset of the illness are not fully known, genetic abnormalities appear to be important in some types of presenile dementia, such as frontotemporal dementia with parkinsonism linked to chromosome 17. Conversely, senile dementias such as sporadic AD and VaD commonly occur in patients of senile age. These disorders may also occur in patients of presenile age, although less frequently. Alzheimer's disease was originally classified as a 'presenile dementia'. Since the 1980s, 'senile dementia of Alzheimer type' (SDAT) and 'Alzheimer's disease' have been considered to belong to the same pathological entity and both are now known as 'dementia of Alzheimer's type (DAT)' or merely 'Alzheimer's disease'. Rapid progression of cognitive impairment with neuropsychological syndromes and neurological symptoms has been considered a characteristic of early onset AD. However, recently, neurological symptoms such as spastic paraparesis, seizures, and myoclonic convulsions have been reported to occur infrequently in early onset AD, although language problems and visuospatial dysfunctions are common. There are at least three dominant genes that have been identified in cases of familial Alzheimer's disease with early onset, namely the amyloid precursor gene (APP), and the genes encoding presenilin 1 (PSEN1) and presenilin 2 (PSEN2). Therefore, genetic abnormalities are important factors contributing to the earlier onset of the illness. It is also important to investigate the pathophysiological mechanism in relation to genetic abnormalities, environmental factors, physical illnesses, and metabolic disturbances to understand the processes underlying the development of dementia with early onset.

摘要

早发性痴呆有两种类型

(i)早老性痴呆;(ii)早发性老年性痴呆。大多数在65岁之前患上痴呆症的患者患有阿尔茨海默病(AD)。其余患者可能患有血管性痴呆(VaD)、额颞叶痴呆、头部损伤、酒精中毒或代谢紊乱。由额颞叶变性、进行性核上性麻痹和皮质基底节变性引起的早老性痴呆通常发生在早老患者中,在老年患者中很少见。尽管导致疾病加速发作的因素尚未完全明确,但遗传异常在某些类型的早老性痴呆中似乎很重要,例如与17号染色体相关的伴有帕金森综合征的额颞叶痴呆。相反,散发性AD和VaD等老年性痴呆常见于老年患者。这些疾病也可能发生在早老患者中,尽管频率较低。阿尔茨海默病最初被归类为“早老性痴呆”。自20世纪80年代以来,“阿尔茨海默型老年性痴呆”(SDAT)和“阿尔茨海默病”被认为属于同一病理实体,现在两者都被称为“阿尔茨海默型痴呆(DAT)”或简称为“阿尔茨海默病”。认知障碍伴神经心理学综合征和神经症状的快速进展被认为是早发性AD的一个特征。然而,最近有报道称,尽管语言问题和视觉空间功能障碍很常见,但痉挛性截瘫、癫痫发作和肌阵挛性抽搐等神经症状在早发性AD中很少发生。在早发性家族性阿尔茨海默病病例中,至少已鉴定出三个显性基因,即淀粉样前体基因(APP)以及编码早老素1(PSEN1)和早老素2(PSEN2)的基因。因此,遗传异常是导致疾病早发的重要因素。研究与遗传异常、环境因素、身体疾病和代谢紊乱相关的病理生理机制对于理解早发性痴呆的发病过程也很重要。

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