Lima Marisa, Tábuas-Pereira Miguel, Duro Diana, Durães João, Vieira Daniela, Baldeiras Inês, Almeida Maria Rosário, Santana Isabel
Neurology Department, Centro Hospitalar e Universitário de Coimbra; University of Coimbra, Center for Research in Neuropsychology and Cognitive Behavioral Intervention (CINEICC), Faculty of Psychology and Educational Sciences, Coimbra, Portugal.
Neurology Department, Centro Hospitalar e Universitário de Coimbra; University of Coimbra, Faculty of Medicine, Coimbra, Portugal.
Neural Regen Res. 2021 May;16(5):910-915. doi: 10.4103/1673-5374.297082.
The distinction between sporadic and genetic behavioural-variant frontotemporal dementia (bvFTD) regarding some neuropsychological (NP) features remains challenging. Specifically, progranulin (GRN)-associated bvFTD frequently presents with early episodic memory impairment and some degree of parietal dysfunction which are supporters of Alzheimer's disease (AD) diagnosis. In this context, we aimed to characterize the NP profile of GRN-bvFTD as compared to sporadic-bvFTD and AD in patients with mild dementia (Mini-Mental State Examination score ≥ 17 and Clinical Dementia Rating Scale score ≤ 1. We identified 21 patients at Centro Hospitalar e Universitário de Coimbra, Portugal with GRN mutations belonging to fifteen different families. As our focus was bvFTD variants, FTD-related aphasic forms (3 patients) were excluded. The remaining 18 GRN-bvFTD were further matched with 18 sporadic-bvFTD and 18 AD patients according to disease staging, age and education. All patients completed the Mini-Mental State Examination, Montreal Cognitive Assessment (MoCA) and a comprehensive NP assessment battery. Results were converted into z-scores. Differences between groups in individual NP measures and NP domains were assessed through non-parametric tests (Kruskal-Wallis test analysis) and eta squared (ŋ) was calculated as a measure of effect size. Group comparisons show that GRN patients have worse performances on verbal retrieval processes (P = 0.039, ŋ = 0.110) and visuoconstructive abilities (P = 0.039, ŋ = 0.190) than sporadic bvFTD forms. When compared to AD, GRN patients present a higher impairment in frontal (P = 0.001, ŋ = 0.211) and parietal (P = 0.041, ŋ = 0.129) measures and a better performance in memory tasks (P = 0.020, ŋ = 0.120). Sporadic-bvFTD forms are worse than AD in frontal measures (P = 0.032, ŋ = 0.200), being better in both memory (P = 0.010, ŋ = 0.131) and visuospatial skills (P = 0.023, ŋ = 0.231). Considering these results, we conclude that GRN-bvFTD patients present a NP profile that associates the typical patterns of FTD and AD deficits. This is particularly expressive in visuoconstructive abilities, which was the more discriminative feature between groups, followed by episodic verbal memory. This study was approved by the Institutional Ethics Committee of Centro Hospitalar e Universitário de Coimbra, Portugal (CE-029/2019) on June 24, 2019.
散发性与遗传性行为变异型额颞叶痴呆（bvFTD）在某些神经心理学（NP）特征方面的区分仍然具有挑战性。具体而言，与原纤维蛋白（GRN）相关的bvFTD经常表现出早期情景记忆损害和某种程度的顶叶功能障碍，这些都是支持阿尔茨海默病（AD）诊断的因素。在此背景下，我们旨在将GRN-bvFTD的NP特征与散发性bvFTD和轻度痴呆患者（简易精神状态检查表评分≥17且临床痴呆评定量表评分≤1）的AD进行比较。我们在葡萄牙科英布拉大学医院中心确定了21例携带GRN突变的患者，这些患者分属于15个不同家庭。由于我们关注的是bvFTD变异型，因此排除了与FTD相关的失语形式（3例患者）。其余18例GRN-bvFTD患者根据疾病分期、年龄和教育程度进一步与18例散发性bvFTD患者和18例AD患者进行匹配。所有患者均完成了简易精神状态检查表、蒙特利尔认知评估（MoCA）和一项全面的NP评估量表。结果转换为z分数。通过非参数检验（Kruskal-Wallis检验分析）评估各NP指标和NP领域在组间的差异，并计算eta平方（ŋ）作为效应大小的度量。组间比较表明，与散发性bvFTD形式相比，GRN患者在言语检索过程（P = 0.039，ŋ = 0.110）和视觉构建能力（P = 0.039，ŋ = 0.190）方面表现更差。与AD相比，GRN患者在额叶（P = 0.001，ŋ = 0.211）和顶叶（P = 0.041，ŋ = 0.129）指标上的损害更大，但在记忆任务中的表现更好（P = 0.020，ŋ = 0.120）。散发性bvFTD形式在额叶指标上比AD更差（P = 0.032，ŋ = 0.200），但在记忆（P = 0.010，ŋ = 0.131）和视觉空间技能（P = 0.023，ŋ = 0.231）方面表现更好。考虑到这些结果，我们得出结论，GRN-bvFTD患者呈现出一种NP特征，将FTD和AD缺陷的典型模式联系起来。这在视觉构建能力方面尤为明显，这是组间最具区分性的特征，其次是情景言语记忆。本研究于2019年6月24日获得葡萄牙科英布拉大学医院中心机构伦理委员会（CE-029/2019）的批准。
