Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
Department of Neurological and Vision Sciences, Neurology Unit, ASST Spedali Civili, Brescia, Italy.
Neurol Sci. 2022 Sep;43(9):5281-5287. doi: 10.1007/s10072-022-06185-7. Epub 2022 Jun 8.
Frontotemporal dementia (FTD) encompasses a wide spectrum of genetic, clinical, and histological findings. Sex is emerging as a potential biological variable influencing FTD heterogeneity; however, only a few studies explored this issue with nonconclusive results.
To estimate the role of sex in a single-center large cohort of FTD patients.
Five hundred thirty-one FTD patients were consecutively enrolled. Demographic, clinical, and neuropsychological features, survival rate, and serum neurofilament light (NfL) concentration were determined and compared between sex.
The behavioral variant of FTD was more common in men, whereas primary progressive aphasia was overrepresented in women (p < 0.001). While global cognitive impairment was comparable, females had a more severe cognitive impairment, namely in Trail Making Test parts A and B (p = 0.003), semantic fluency (p = 0.03), Short Story Recall Test (p = 0.003), and the copy of Rey Complex Figure (p = 0.005). On the other hand, men exhibited more personality/behavioral symptoms (Frontal Behavior Inventory [FBI] AB, p = 0.003), displaying higher scores in positive FBI subscales (FBI B, p < 0.001). In particular, apathy (p = 0.02), irritability (p = 0.006), poor judgment (p = 0.033), aggressivity (p = 0.008), and hypersexuality (p = 0.006) were more common in men, after correction for disease severity. NfL concentration and survival were not statistically different between men and women (p = 0.167 and p = 0.645, respectively).
The present study demonstrated that sex is a potential factor in determining FTD phenotype, while it does not influence survival. Although the pathophysiological contribution of sex in neurodegeneration is not well characterized yet, our findings highlight its role as deserving biological variable in FTD.
额颞叶痴呆（FTD）涵盖了广泛的遗传、临床和组织学发现。性别正成为影响 FTD 异质性的潜在生物学变量；然而，只有少数研究对此问题进行了探讨，结果尚无定论。
在一个单中心的大型 FTD 患者队列中评估性别作用。
连续纳入 531 名 FTD 患者。确定并比较了性别之间的人口统计学、临床和神经心理学特征、生存率和血清神经丝轻链（NfL）浓度。
行为变异型 FTD 在男性中更为常见，而原发性进行性失语症在女性中更为多见（p<0.001）。虽然整体认知障碍相当，但女性的认知障碍更为严重，具体表现在 Trail Making Test 部分 A 和 B（p=0.003）、语义流畅性（p=0.03）、短篇故事回忆测试（p=0.003）和 Rey 复杂图形的复制（p=0.005）。另一方面，男性表现出更多的人格/行为症状（额叶行为量表[FBI] AB，p=0.003），在正性 FBI 子量表中得分更高（FBI B，p<0.001）。具体而言，男性更常见淡漠（p=0.02）、易怒（p=0.006）、判断力差（p=0.033）、攻击性（p=0.008）和性欲亢进（p=0.006），这些症状在考虑疾病严重程度后校正。男性和女性之间的 NfL 浓度和生存率没有统计学差异（p=0.167 和 p=0.645）。
本研究表明，性别是决定 FTD 表型的一个潜在因素，而性别并不影响生存率。尽管性别在神经退行性变中的病理生理学贡献尚未得到很好的描述，但我们的研究结果强调了其作为 FTD 中值得关注的生物学变量的作用。
