Niakosari Vida, Namjoo-Moghadam Ali, Abin Ahmad Ali, Poursadeghfard Maryam, Hashemi Sana
Faculty of Computer Science and Engineering, Shahid Beheshti University, Tehran, Iran.
Clinical Neurology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Sci Rep. 2025 Jan 4;15(1):788. doi: 10.1038/s41598-024-84779-1.
Genetics plays a significant role in Multiple Sclerosis (MS), with approximately 12.6% of cases occurring in familial form. While previous studies have demonstrated differences in disease progression and MRI findings between familial and sporadic MS, there has been no comparison of cognitive impairment between them. In this study, we evaluated cognitive performance among patients with sporadic and familial MS, along with a healthy control group. A total of 130 individuals, matched for age, sex, and education, were recruited for each group. The mean age of participants was 37.8 ± 9.8 years, and 77.6% of them were female. Cognitive performance was assessed using the Brief International Cognitive Assessment for MS (BICAMS) across the three groups. Both familial and sporadic MS patients showed poorer cognitive performance in the Symbol Digit Modalities Test (SDMT) (Familial: 46.96 ± 12.59, Sporadic: 45.88 ± 14.13, Normal: 56.48 ± 11.89), California Verbal Learning Test (CVLT) (Familial: 66.90 ± 14.01, Sporadic: 68.19 ± 16.49, Normal: 75.18 ± 13.02), and the Brief Visuospatial Memory Test-Revised (BVMT-R) (Familial: 24 (12), Sporadic: 24 (12), Normal: 35 (4)) compared to healthy controls. Meanwhile, no significant differences in cognitive impairment were observed between the familial and sporadic MS groups in the SDMT (p = 1.000), CVLT (p = 0.775), and BVMT-R (p = 0.733). Furthermore, this study found significant relationships between education, depression, age, and sex with different aspects of cognitive performance in MS. Overall, both familial and sporadic MS patients demonstrated similar levels of cognitive impairment.
遗传学在多发性硬化症（MS）中起着重要作用，约12.6%的病例为家族性形式。虽然先前的研究已经证明家族性MS和散发性MS在疾病进展和MRI结果上存在差异，但尚未对两者之间的认知障碍进行比较。在本研究中，我们评估了散发性和家族性MS患者以及健康对照组的认知表现。每组共招募了130名年龄、性别和教育程度相匹配的个体。参与者的平均年龄为37.8±9.8岁，其中77.6%为女性。使用针对MS的简短国际认知评估（BICAMS）对三组的认知表现进行评估。与健康对照组相比，家族性和散发性MS患者在符号数字模式测试（SDMT）（家族性：46.96±12.59，散发性：45.88±14.13，正常：56.48±11.89）、加利福尼亚言语学习测试（CVLT）（家族性：66.90±14.01，散发性：68.19±16.49，正常：75.18±13.02）和修订后的简短视觉空间记忆测试（BVMT-R）（家族性：24（12），散发性：24（12），正常：35（4））中的认知表现均较差。同时，在SDMT（p = 1.000）、CVLT（p = 0.775）和BVMT-R（p = 0.733）中，家族性和散发性MS组之间未观察到认知障碍的显著差异。此外，本研究发现教育程度、抑郁、年龄和性别与MS认知表现的不同方面之间存在显著关系。总体而言，家族性和散发性MS患者的认知障碍水平相似。
