Is migraine a common manifestation of CADASIL? Arguments Pros.

IF 7.3 1区医学 Q1 CLINICAL NEUROLOGY

Journal of Headache and Pain Pub Date : 2025-04-01 DOI:10.1186/s10194-025-01980-x

Hugues Chabriat

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引用次数: 0

Abstract

Background: Migraine with aura (MA) is a hallmark feature of CADASIL, a hereditary small-vessel disease caused by NOTCH3 mutations. While MA is prevalent in CADASIL, its underlying mechanisms remain unclear, and the links observed can be questioned or debated. This study examined the prevalence, clinical characteristics, and pathophysiology of MA in patients with CADASIL.

Methods: Clinical and experimental data were reviewed to assess MA prevalence, aura characteristics, sex differences, and pathophysiological insights from CADASIL models to confirm the indisputable pathophysiological links between migraine and aura and this unique genetic model of cerebral small vessel disease.

Results: MA was 10-20 times more prevalent in patients with CADASIL than in the general population, with frequent atypical and prolonged auras. The altered sex distribution and delayed onset suggest disease-specific mechanisms. Experimental data also revealed heightened susceptibility to cortical spreading depression (CSD) in preclinical CADASIL models, linked to greater fragility in maintaining cortical ionic homeostasis.

Conclusion: The high prevalence and distinct MA features, as well as the data obtained at the preclinical level, strongly support a causal relationship mediated by neurovascular dysfunction in CADASIL. Accumulating data in this condition sheds new light on the much-debated relationship between migraine and cerebrovascular diseases.

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背景：先兆偏头痛（MA）是CADASIL的标志性特征，CADASIL是一种由NOTCH3突变引起的遗传性小血管疾病。虽然先兆偏头痛在 CADASIL 中很常见，但其潜在机制仍不清楚，所观察到的联系也存在疑问或争论。本研究探讨了 MA 在 CADASIL 患者中的发病率、临床特征和病理生理学：方法：回顾临床和实验数据，评估偏头痛的发病率、先兆特征、性别差异以及CADASIL模型的病理生理学见解，以确认偏头痛和先兆与这种独特的脑小血管疾病遗传模型之间无可争议的病理生理学联系：结果：CADASIL患者的先兆性偏头痛发病率是普通人群的10-20倍，而且经常出现非典型和长时间的先兆。性别分布的改变和发病时间的推迟表明了疾病的特异性机制。实验数据还显示，在临床前CADASIL模型中，皮质扩散抑制（CSD）的易感性增加，这与维持皮质离子平衡的脆弱性增加有关：高发病率、明显的 MA 特征以及在临床前水平获得的数据，都有力地证明了 CADASIL 中神经血管功能障碍所介导的因果关系。在这种情况下积累的数据为备受争议的偏头痛与脑血管疾病之间的关系提供了新的线索。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Headache and Pain 医学-临床神经学

CiteScore

11.80

自引率

13.50%

发文量

143

审稿时长

6-12 weeks

期刊介绍： The Journal of Headache and Pain, a peer-reviewed open-access journal published under the BMC brand, a part of Springer Nature, is dedicated to researchers engaged in all facets of headache and related pain syndromes. It encompasses epidemiology, public health, basic science, translational medicine, clinical trials, and real-world data. With a multidisciplinary approach, The Journal of Headache and Pain addresses headache medicine and related pain syndromes across all medical disciplines. It particularly encourages submissions in clinical, translational, and basic science fields, focusing on pain management, genetics, neurology, and internal medicine. The journal publishes research articles, reviews, letters to the Editor, as well as consensus articles and guidelines, aimed at promoting best practices in managing patients with headaches and related pain.