Impact of Polymorphism in Isolated Intracranial Arterial Steno-Occlusive Disease.

BACKGROUND AND PURPOSE

To determine whether the p.R4810K mutation modifies the number of moyamoya disease manifestations and recurrent strokes in isolated intracranial arterial steno-occlusive disease (ICAD).

METHODS

This retrospective case-control study analyzed patients who visited the Asan Medical Center with steno-occlusive lesions in the M1 segment of the middle cerebral artery and terminal internal carotid artery, and underwent genetic testing for screening moyamoya disease between January 2010 and November 2022. Patients with supportive findings of moyamoya disease or moderate-to-severe stenosis in the extracranial arteries were excluded. After matching antiplatelet drugs, the presentation of moyamoya disease and stroke recurrence were analyzed using chi-squared analysis and Kaplan-Meier survival curve analysis.

RESULTS

The 1,567 patients who underwent evaluations of polymorphisms included 753 with ICAD, among whom females predominated (=452, 60.0%) and 289 (38.4%) had an mutation. The follow-up period was 2.47±3.51 years (mean±standard deviation; median=1.00 year, interquartile range=0-4 years). The risk of progression to moyamoya disease was higher in the -related-vasculopathy group than the -negative stenosis group (=27 [9.3%] versus =6 [1.3%], p<0.01), as were the risks of ischemic stroke (=13 [4.5%] versus =7 [1.5%], =0.01) and hemorrhagic stroke (=5 [1.7%] versus =1 [0.2%], =0.02, respectively). Furthermore, the presence of an mutation was significantly associated with the risk of stroke recurrence (odds ratio=2.34, 95% confidence interval=1.44-3.80, <0.01).

CONCLUSIONS

Evaluations of polymorphisms may help to identify patients with isolated ICAD at a high risk of progression to moyamoya disease and stroke.