Burkett John Glenn, Dougherty Carrie
Department of Neurology, MedStar Georgetown University Hospital, 3800 Reservoir Road NW, 7-PHC, Washington, DC, 20007, USA.
Curr Pain Headache Rep. 2017 Apr;21(4):21. doi: 10.1007/s11916-017-0621-0.
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is an important disease to consider in the differential diagnosis of migraine with aura. This review examines current literature regarding migraine in CADASIL, as well as diagnostic and treatment modalities.
Recent studies have shown that smoking is a modifiable risk factor for progression of CADASIL (Chabriat et al. in Stroke 47:4-11, 2015). Specific imaging changes and findings on clinical exam can predict disease progression. However, migraine symptoms often precede MRI changes (Guey et al. in Cephalalgia 36:1038-47, 2015). A recent paper on migraine treatment in CADASIL reevaluates the prevailing belief that vasoconstrictive abortive medications are contraindicated in these patients (Tan and Markus in PLoS ONE 11:e0157613, 2016). CADASIL is an autosomal dominantly inherited vasculopathy causing ischemic pathology in younger individuals due to a mutation in the NOTCH3 gene. The mutation results in impaired arterial contractility due to accumulation of granular osmiophilic extracellular material (GOM) in vascular smooth muscle cells (VSMCs). Clinical manifestations include migraine with and without aura, cognitive decline, ischemic events, and mood disorders. The presenting symptom is often migraine with aura. Characteristic MRI changes are often present. Genetic screening is available to confirm NOTCH3 mutation and pathognomic changes are often seen in skin biopsy. Treatment of migraine is similar to the general population, but with some notable and specific differences. Further studies in CADASIL, other small vessel arteriopathies, and migraine may help us understand more about the pathophysiology of these conditions and help with treatment development.
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）是偏头痛伴先兆鉴别诊断中需要考虑的一种重要疾病。本综述探讨了有关CADASIL中偏头痛的当前文献以及诊断和治疗方式。
近期研究表明，吸烟是CADASIL病情进展的一个可改变的危险因素（沙布里亚等人，《中风》，2015年，第47卷，第4 - 11页）。特定的影像学改变和临床检查结果可预测疾病进展。然而，偏头痛症状通常先于MRI改变出现（盖伊等人，《头痛》，2015年，第36卷，第1038 - 1047页）。一篇关于CADASIL中偏头痛治疗的近期论文重新评估了普遍认为的血管收缩性终止发作药物在这些患者中禁忌使用的观点（谭和马库斯，《公共科学图书馆·综合》，2016年，第11卷，e0157613）。CADASIL是一种常染色体显性遗传性血管病，由于NOTCH3基因突变导致年轻个体出现缺血性病变。该突变导致血管平滑肌细胞（VSMC）中嗜锇颗粒状细胞外物质（GOM）积聚，从而损害动脉收缩功能。临床表现包括有先兆和无先兆的偏头痛、认知功能下降、缺血性事件和情绪障碍。首发症状通常是有先兆的偏头痛。特征性的MRI改变常常存在。可进行基因筛查以确认NOTCH3突变，并且在皮肤活检中常可见到特征性改变。偏头痛的治疗与普通人群相似，但存在一些显著的特定差异。对CADASIL、其他小血管动脉病和偏头痛的进一步研究可能有助于我们更多地了解这些疾病的病理生理学，并有助于开发治疗方法。
