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先天与后天在额颞叶变性中的作用:遗传背景和教育对脑损伤的相互影响。

Nature versus nurture in frontotemporal lobar degeneration: the interaction of genetic background and education on brain damage.

机构信息

Centre for Ageing Brain and Neurodegenerative Disorders, Neurology Unit, University of Brescia, Italy.

出版信息

Dement Geriatr Cogn Disord. 2012;33(6):372-8. doi: 10.1159/000339366. Epub 2012 Jul 10.

DOI:10.1159/000339366
PMID:22797130
Abstract

BACKGROUND

Frontotemporal lobar degeneration (FTLD) is a progressive neurodegenerative disorder with a strong genetic background. It has been reported that modifiable factors, i.e. education (E), might act as proxies for reserve capacity.

OBJECTIVE

To evaluate the impact of genetic background (positive family history, FH) on reserve mechanisms, by measuring regional cerebral blood flow (rCBF) correlates in FTLD patients.

METHODS

145 FTLD patients were recruited and underwent clinical, neuropsychological, behavioral assessment, and SPECT study. The main effect of E and FH on rCBF was evaluated. To test the potential interaction between the E and rCBF in FTLD patients with or without positive FH, a difference of slope analysis in the two groups was calculated. All the analyses were controlled for disease severity (Clinical Dementia Rating Scale, FTD-CDR).

RESULTS

A main effect of education (E+ < E-) in frontal regions was reported, and high genetic loading (FH+ < FH-) was associated with a greater bilateral temporoparietal hypoperfusion. Evaluating the relationship between E and rCBF, a greater hypoperfusion of cingulate region in FH+ as compared to FH- was observed.

DISCUSSION

Reserve mechanisms are available also in presence of an unfavorable genetic status. However, these compensatory mechanisms are modulated by the interaction with genetic factors.

摘要

背景

额颞叶变性(FTLD)是一种进行性神经退行性疾病,具有很强的遗传背景。据报道,可改变的因素,即教育(E),可能作为储备能力的替代指标。

目的

通过测量 FTLD 患者的局部脑血流(rCBF)相关指标,评估遗传背景(阳性家族史,FH)对储备机制的影响。

方法

招募了 145 名 FTLD 患者,并进行了临床、神经心理学、行为评估和 SPECT 研究。评估了 E 和 FH 对 rCBF 的主要影响。为了测试 FH 阳性和 FH 阴性 FTLD 患者中 E 和 rCBF 之间潜在的相互作用,在两组之间计算了斜率差异分析。所有分析均控制了疾病严重程度(临床痴呆评定量表,FTD-CDR)。

结果

报告了教育(E+<E-)对额叶区域的主要影响,并且高遗传负荷(FH+<FH-)与双侧颞顶叶低灌注有关。评估 E 和 rCBF 之间的关系时,发现 FH+患者的扣带回区域比 FH-患者的灌注减少更多。

讨论

即使存在不利的遗传状况,储备机制也是可用的。然而,这些代偿机制受到与遗传因素相互作用的调节。

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