Taniguchi Akira, Shindo Akihiro, Tabei Ken-Ichi, Onodera Osamu, Ando Yukio, Urabe Takao, Kimura Kazumi, Kitagawa Kazuo, Miyamoto Yoshihiro, Takegami Misa, Ihara Masafumi, Mizuta Ikuko, Mizuno Toshiki, Tomimoto Hidekazu
Department of Neurology, Mie University Graduate School of Medicine, Tsu, Japan.
School of Industrial Technology, Advanced Institute of Industrial Technology, Tokyo Metropolitan Public University Corporation, Tokyo, Japan.
Front Aging Neurosci. 2022 Jun 10;14:876437. doi: 10.3389/fnagi.2022.876437. eCollection 2022.
Patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) show various clinical symptoms, including migraine, recurrent stroke, and cognitive impairment. We investigated the associations between magnetic resonance imaging (MRI) markers of small vessel disease and neuropsychological tests and identified the MRI characteristics for predicting cognitive impairment in patients with CADASIL.
Subjects included 60 CADASIL patients diagnosed with genetic tests and registered in the Japanese CADASIL REDCap database between June 2016 and December 2020. Patient information including clinical data, modified Rankin Scale (mRS); MRI findings of small vessel disease including periventricular and deep white matter lesions (WML), lacunar infarcts, and cerebral microbleeds (CMBs); and neuropsychological tests, including the Japanese version of the Mini-Mental State Examination (MMSE), the Japanese version of the Montreal Cognitive Assessment (MoCA-J), and the Frontal Assessment Battery (FAB), were evaluated.
Data from 44 CADASIL patients were eligible for this study, compared between patients with and without dementia. Regarding the neuroimaging findings, the Fazekas score of periventricular and deep WML was higher in patients with dementia (periventricular, = 0.003; deep, = 0.009). The number of lacunar infarcts was higher in patients with dementia ( = 0.001). The standardized partial regression coefficient (SPRC) in MoCA-J was 0.826 (95% CI, 0.723-0.942; = 0.005) for the number of CMBs. The SPRC in MMSE was 0.826 (95% CI, 0.719-0.949; = 0.007) for the number of CMBs. The SPRC for FAB decreased significantly to 0.728 (95% CI, 0.551-0.960; = 0.024) for the number of lacunar infarcts. Receiver operating characteristic (ROC) curves for dementia showed that in the number of lacunar infarcts, a cut-off score of 5.5 showed 90.9% sensitivity and 61.1% specificity. For the number of CMBs, a cut-off score of 18.5 showed 45.5% sensitivity and 100% specificity.
The characteristic MRI findings were that CADASIL patients with dementia had severe WML, both periventricular and deep, and a larger number of lacunar infarcts than those without dementia. The risk of dementia may be associated with ≥ 6 lacunar infarcts, ≥19 CMBs, or a Fazekas scale score of 3 in periventricular and deep WML.
患有常染色体显性遗传性脑动脉病伴皮质下梗死和白质脑病（CADASIL）的患者表现出多种临床症状，包括偏头痛、复发性中风和认知障碍。我们研究了小血管病的磁共振成像（MRI）标志物与神经心理学测试之间的关联，并确定了预测CADASIL患者认知障碍的MRI特征。
研究对象包括60例经基因检测确诊并于2016年6月至2020年12月登记在日本CADASIL REDCap数据库中的CADASIL患者。评估患者信息，包括临床数据、改良Rankin量表（mRS）；小血管病的MRI表现，包括脑室周围和深部白质病变（WML）、腔隙性梗死和脑微出血（CMB）；以及神经心理学测试，包括日语版简易精神状态检查表（MMSE）、日语版蒙特利尔认知评估量表（MoCA-J）和额叶评估量表（FAB）。
44例CADASIL患者的数据符合本研究要求，对有痴呆和无痴呆的患者进行了比较。关于神经影像学结果，痴呆患者脑室周围和深部WML的 Fazekas评分更高（脑室周围， = 0.003；深部， = 0.009）。痴呆患者的腔隙性梗死数量更多（ = 0.001）。CMB数量在MoCA-J中的标准化偏回归系数（SPRC）为0.826（95%CI，0.723 - 0.942； = 0.005）。CMB数量在MMSE中的SPRC为0.826（95%CI，0.719 - 0.949； = 0.007）。腔隙性梗死数量在FAB中的SPRC显著降至0.72
