Men Xuejiao, Li Hui, Guo Zhuoxin, Qin Bin, Ruan Hengfang, Cai Ruipeng, Zhang Bingjun, Wu Aimin, Wei Lei, Dai Yongqiang, Li Haiyan, Lu Zhengqi
Department of Neurology, Mental and Neurological Disease Research Center, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China.
Department of Radiology, The Third Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China.
Ann Clin Transl Neurol. 2025 Jun;12(6):1171-1178. doi: 10.1002/acn3.70054. Epub 2025 Apr 14.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic cerebral small vessel disease in adults. This study investigates the occurrence, risk factors, and prognosis of acute cerebral microinfarcts (ACMIs) in patients with CADASIL.
A total of 60 patients with genetically confirmed or pathologically verified CADASIL were enrolled in the study. ACMIs were identified as hyperintense lesions on diffusion-weighted imaging (DWI) with a diameter of less than 5 mm. The evolution of ACMIs was determined by brain MRI scans at 1 year of follow-up. Functional outcomes, cognitive performance, and quality of life after ACMIs were evaluated at months 6, 12, and 24, respectively.
ACMIs were observed in 12 out of 60 patients (20%) with CADASIL and predominantly located in the white matter. Patients with CADASIL had a significantly higher risk of ACMIs when they had a patent foramen ovale (PFO) (OR, 16.429). On follow-up MRI scans at month 12, the majority of ACMIs vanished. Patients with ACMIs had worse functional outcomes, as indicated by higher mRS scores and lower MoCA scores at months 12 and 24 compared with those without ACMIs. Additionally, patients with ACMIs had significantly worse EQ-5D-3L scores at all follow-up points compared with patients without ACMIs.
ACMIs were not rare in patients with CADASIL. PFO could independently predict the risk of ACMIs in CADASIL. Furthermore, the majority of ACMIs can disappear at 1 year of follow-up. The findings indicate that ACMIs, influenced by PFO, are prevalent in CADASIL and associated with a decline in quality of life and functional outcomes over time.
伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）是成人中最常见的单基因脑小血管病。本研究调查CADASIL患者急性脑微梗死（ACMI）的发生率、危险因素及预后。
共纳入60例经基因确诊或病理证实的CADASIL患者。ACMI被定义为弥散加权成像（DWI）上直径小于5毫米的高信号病变。通过随访1年时的脑部MRI扫描确定ACMI的演变情况。分别在6个月、12个月和24个月时评估ACMI后的功能结局、认知表现和生活质量。
60例CADASIL患者中有12例（20%）观察到ACMI，主要位于白质。CADASIL患者伴有卵圆孔未闭（PFO）时发生ACMI的风险显著更高（OR，16.429）。在第12个月的随访MRI扫描中，大多数ACMI消失。与无ACMI的患者相比，有ACMI的患者在第12个月和24个月时mRS评分更高、MoCA评分更低，提示功能结局更差。此外，与无ACMI的患者相比，有ACMI的患者在所有随访时间点的EQ-5D-3L评分均显著更差。
ACMI在CADASIL患者中并不罕见。PFO可独立预测CADASIL患者发生ACMI的风险。此外，大多数ACMI在随访1年时可消失。研究结果表明，受PFO影响，ACMI在CADASIL中普遍存在，并随时间推移与生活质量和功能结局下降相关。
