Chinese moyamoya disease study:cohort profile

Background The etiology and natural course of moyamoya disease (MMD) remain unknown. This study evaluated the natural course and etiology of MMD using data from the Chinese MMD (C-MMD) cohort study. Methods The C-MMD cohort consisted of 6,167 patients with MMD treated at our center over the past 20 years. We analyzed the medical history and laboratory and imaging examination results of the patients at different stages of the disease to identify common features of MMD. Results The median age for symptom onset was 32 years. The age distribution was bimodal; the highest peak was between ages 35 and 45 years, with a smaller peak between ages 3 and 9 years. The female-to-male ratio was 1:1. The disease occurred mainly in the Han people and was rarely observed in minority nationalities. In our cohort, a transient ischemic attack was the most common initial clinical manifestation (46.3%); others included infarction (25.0%), hemorrhage (15.1%), and headache (7.9%). Conclusions The C-MMD cohort is currently one of the largest single-center MMD cohorts in the world. This study provides baseline data for future research on the etiology and natural course of MMD. Clinical Trial Registration This study has been registered in the Chinese Clinical trial registry (registration number: ChiCTR2200064160).