Chronic Atrial and Intestinal Dysrhythmia Syndrome: A Distinct Monogenic Cause of Cerebral Small Vessel Disease
· 2026-09-04 · 原文
DOI：10.64898/2026.08.31.26360967v1?rss=1预印本：medRxiv
Objective: Chronic atrial and intestinal dysrhythmia (CAID) syndrome is a rare autosomal recessive cohesinopathy classically defined by sick sinus syndrome and chronic intestinal pseudo-obstruction; however, emerging evidence suggests an association with cerebral small vessel disease (CSVD). We aimed to characterize the neurological and neuroimaging spectrum of CSVD in CAID syndrome. Methods: We conducted a cross-sectional, retrospective study of 16 French-Canadians with genetically confirmed CAID syndrome. All patients underwent comprehensive neurological assessment. Brain MRI was performed in 14 patients, with CSVD markers evaluated by an expert neuroradiologist according to the STRIVE-2 criteria. Results: The median age at last evaluation was 34 years (range, 19-60); 62.5% were women. N
讲义
讲义·推断 依据「原文」自动生成的结构化摘要（推断），非原文表述；以原文为准。
1. 人话版
Objective: Chronic atrial and intestinal dysrhythmia (CAID) syndrome is a rare autosomal recessive cohesinopathy classically defined by sick sinus syndrome and chronic intestinal pseudo-obstruction; however, emerging evidence suggests an association with cerebral small vessel disease (CSVD).
We aimed to characterize the neurological and neuroimaging spectrum of CSVD in CAID syndrome.
2. 领域脉络
来源板块：板块一 · 研究前沿。
3. 机制拆解
All patients underwent comprehensive neurological assessment.
4. 证据与数字
Methods: We conducted a cross-sectional, retrospective study of 16 French-Canadians with genetically confirmed CAID syndrome.
Brain MRI was performed in 14 patients, with CSVD markers evaluated by an expert neuroradiologist according to the STRIVE-2 criteria.
Results: The median age at last evaluation was 34 years (range, 19-60); 62.5% were women.
5. 反例与边界
摘要未声明局限与反例——这是需要警惕的信号，精读时先问边界。
6. 跨领域连接与意外收获
思考本文机制能否迁移到你正在跟进的问题。
7. 可复用方法
把本文机制与你手头项目对照，找一个两周内能验证的最小实验。
8. 术语表
精读时把不熟的术语记入此处，作为下次回忆的锚点。