1Department of Physical Medicine and Rehabilitation, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan.
Am J Alzheimers Dis Other Demen. 2014 Mar;29(2):133-7. doi: 10.1177/1533317513511289. Epub 2013 Nov 24.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) syndrome is a hereditary disease resulting from NOTCH3 gene mutation. The clinical presentations include migraine, recurrent stroke, and cognitive impairment. The severity of cognitive impairment varies in different stages, and early recognition poses a challenge. A 47-year-old lady presented with chronic migraine and sudden onset of hemiparesis. Magnetic resonance imaging revealed compatible findings of CADASIL, which was confirmed by mutation analysis of NOTCH3 gene. Early cognitive impairment was detected by her score of 3 in Ascertain Dementia 8 (AD8) questionnaire and confirmed by detailed neuropsychological assessments. After 21 months of follow-up, deterioration in her cognition and ability to perform instrumental activities of daily living were significant with a follow-up AD8 score of 7. Ascertain Dementia 8 questionnaire is an easy and valid screening tool for early cognitive impairment in patients with CADASIL syndrome.
伴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)综合征是一种由 NOTCH3 基因突变引起的遗传性疾病。其临床表现包括偏头痛、反复发作性卒中和认知障碍。不同阶段认知障碍的严重程度不同,早期识别具有挑战性。一位 47 岁女性因慢性偏头痛和突发偏瘫就诊。磁共振成像显示符合 CADASIL 的发现,NOTCH3 基因突变分析证实了这一点。AD8 问卷评分 3 分提示早期认知障碍,并通过详细的神经心理学评估得到证实。经过 21 个月的随访,她的认知功能和进行日常工具性活动的能力明显恶化,随访时 AD8 评分为 7。AD8 问卷是一种用于筛查 CADASIL 综合征患者早期认知障碍的简单有效的工具。