Department of Neurology, Alfried Krupp Hospital, Alfried-Krupp-Straße 21, 45131, Essen, Germany.
Department of Neurology, University Hospital Gießen and Marburg, Marburg, Germany.
J Neurol. 2024 Jun;271(6):3328-3339. doi: 10.1007/s00415-024-12228-0. Epub 2024 Mar 13.
Moyamoya disease (MMD) is a rare disorder causing ischemic and hemorrhagic juvenile stroke. It is associated with the founder susceptibility variant p.R4810K in the RNF213 gene in East Asia. Our aim was to enhance understanding of MMD in so far poorly characterized Southeast Asians and exploring differences with Caucasian Europeans.
By retrospective analysis of medical records and systematic database search on PubMed for all published cases, we identified Southeast Asian patients with MMD. We extracted and pooled proportions using fixed-effects models. Our own cohort was tested for the East Asian RNF213 founder variant p.R4810K. One of our Southeast Asian patients underwent post-mortem histopathological examination.
The study cohort comprised 32 Southeast Asians. Mean age at onset in the entire cohort was 32.5 ± 20.3 years (n = 24), 43.4 ± 8.7 years in patients admitted to our center (n = 11), and 23.4 ± 22.4 years in patients from the international literature (n = 13). Female-to-male ratio was 1.6:1. MMD predominantly affected bilateral anterior intracranial vessels. Cerebral ischemia outnumbered transient ischemic attacks (TIAs) and intracranial hemorrhage. TIAs, arterial hypertension and obesity were significantly less frequent in Southeast Asian patients compared to Caucasian Europeans. p.R4810K was absent in all examined Southeast Asians despite of typical histopathological signs of MMD in one autopsy case.
Clinical and histopathological manifestations of MMD in Southeast Asians are similar to those in Caucasian Europeans. The genotype of MMD in Southeast Asians differs from that of most East Asian patients.
烟雾病（MMD）是一种罕见的疾病，可导致缺血性和出血性青少年中风。它与东亚人群中 RNF213 基因的创始人易感变体 p.R4810K 有关。我们的目的是增强对迄今为止特征不明显的东南亚人群中 MMD 的认识，并探讨与白种欧洲人之间的差异。
通过对PubMed 上所有已发表病例的病历回顾性分析和系统数据库搜索，我们确定了东南亚 MMD 患者。我们使用固定效应模型提取并汇总比例。我们自己的队列检测了东亚 RNF213 创始人变体 p.R4810K。我们的一位东南亚患者接受了死后组织病理学检查。
研究队列包括 32 名东南亚人。整个队列的发病年龄平均为 32.5±20.3 岁（n=24），我们中心收治的患者为 43.4±8.7 岁（n=11），国际文献中的患者为 23.4±22.4 岁（n=13）。女性与男性的比例为 1.6:1。MMD 主要影响双侧颅内前血管。脑缺血的发病率高于短暂性脑缺血发作（TIA）和颅内出血。与白种欧洲人相比，东南亚患者的 TIA、动脉高血压和肥胖症明显较少。尽管在一例尸检病例中存在典型的 MMD 组织病理学迹象，但所有检查的东南亚人都不存在 p.R4810K。
东南亚人群 MMD 的临床和组织病理学表现与白种欧洲人相似。东南亚 MMD 的基因型与大多数东亚患者不同。
