PSEN2 突变可能酷似额颞叶痴呆：两例新病例报告及文献综述
PSEN2 Mutations May Mimic Frontotemporal Dementia: Two New Case Reports and a Review.
作者信息
Minguillón Pereiro Anxo Manuel, Quintáns Castro Beatriz, Ouro Villasante Alberto, Aldrey Vázquez José Manuel, Cortés Hernández Julia, Aramburu-Núñez Marta, Arias Gómez Manuel, Jiménez Martín Isabel, Sobrino Tomás, Pías-Peleteiro Juan Manuel
机构信息
Servicio de Neurología, Hospital Clínico Universitario Santiago de Compostela, Travesía de Choupana, 15706 Santiago de Compostela, Spain.
Fundación Pública Galega de Medicina Xenómica, Hospital Clínico Universitario Santiago de Compostela, Rúa da Choupana, 15706 Santiago de Compostela, Spain.
出版信息
Biomedicines. 2024 Aug 17;12(8):1881. doi: 10.3390/biomedicines12081881.
BACKGROUND
Monogenic Alzheimer's disease (AD) has severe health and socioeconomic repercussions. Its rarest cause is presenilin 2 () gene mutations. We present two new cases with presumed PSEN2-AD with unusual clinical and neuroimaging findings in order to provide more information on the pathophysiology and semiology of these patients.
METHODS
Women aged 69 and 62 years at clinical onset, marked by prominent behavioral and language dysfunction, progressing to severe dementia within three years were included. The complete study is depicted. In addition, a systematic review of the PSEN2-AD was performed.
RESULTS
Neuroimaging revealed pronounced frontal white matter hyperintensities (WMH) and frontotemporal atrophy/hypometabolism. The genetic study unveiled variants: c.772G>A (p.Ala258Thr) and c.1073-2_1073-1del. Both cerebrospinal fluid (CSF) and experimental blood biomarkers shouldered AD etiology.
CONCLUSIONS
Prominent behavioral and language dysfunction suggesting frontotemporal dementia (FTD) may be underestimated in the literature as a clinical picture in mutations. Thus, it may be reasonable to include in genetic panels when suspecting FTDL. mutations may cause striking WMH, arguably related to myelin disruption induced by amyloid accumulation.
背景
单基因阿尔茨海默病（AD）具有严重的健康和社会经济影响。其最罕见的病因是早老素2（PSEN2）基因突变。我们报告两例疑似PSEN2-AD的新病例，其具有不寻常的临床和神经影像学表现，以便提供更多关于这些患者病理生理学和症状学的信息。
方法
纳入临床起病时年龄分别为69岁和62岁的女性，以突出的行为和语言功能障碍为特征，在三年内进展为重度痴呆。描述了完整的研究过程。此外，对PSEN2-AD进行了系统综述。
结果
神经影像学显示明显的额叶白质高信号（WMH）和额颞叶萎缩/代谢减低。基因研究发现了两个变异：c.772G>A（p.Ala258Thr）和c.1073-2_1073-1del。脑脊液（CSF）和实验性血液生物标志物均支持AD病因。
结论
提示额颞叶痴呆（FTD）的突出行为和语言功能障碍在文献中作为PSEN2突变的临床表现可能被低估。因此，在怀疑FTDL时，将PSEN2纳入基因检测 panel可能是合理的。PSEN2突变可能导致明显的WMH，这可能与淀粉样蛋白积累引起的髓鞘破坏有关。
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