Abstract WP271: The Role of Ring Finger Protein213 Variant in Patients With Intracranial Atherosclerotic Disease

Introduction: The Ring Finger Protein213 ( RNF213 ) gene variant is a relatively common variant in general population of East Asian countries (0.43 to 1.8%). Recently, RNF213 is reportedly a susceptibility gene not only for moyamoya disease (MMD) but also for intracranial atherosclerosis (ICAS) in this population. However, the role of this genetic factor in patients with ICAS is unknown. We hypothesized that this variant is involved in the pathogenesis of ICAS. Methods: We conducted a prospective study of patients with ICAS and MMD using high-resolution MRI (HR-MRI) and RNF213 (p.Arg4810Lys variant) gene studies. Patients were classified into intracranial atherosclerosis (ICAS) when relevant plaques existed on HR-MRI and moyamoya disease (MMD) when patients had RNF213 variant and HR-MRI showed no plaque but characteristic features of MMD (negative remodeling and basal collaterals). We compared clinical and neuroimaging features between (a) the RNF213 - ICAS, (b) the RNF213 + ICAS, and (c) MMD group. Results: Among 178 patients analyzed, 79 were the RNF213 - ICAS, 37 the RNF213 variant+ ICAS, and 62 the MMD group. Vascular risk factors were more frequently observed in ICAS than MMD patients, but there was no difference between RNF213 - ICAS and the RNF213 variant+ ICAS. Moreover, the site of occlusive disease was different between ICAS and MMD patients, but not between RNF213 - ICAS and the RNF213 variant+ ICAS. It was more distally located in RNF213 variant+ ICAS than in MMD (p=0.012). Compared to RNF213 - ICAS patients, tandem lesions were significantly more common in RNF213 + ICAS (24.1% vs. 67.6%, p<0.05), after adjusted for vascular risk factors. Conclusions: Patients with ICAS and the RNF213 variant showed distinct clinical and imaging features from MMD patients. A high frequency of tandem lesions in RNF213 + ICAS suggest that this variant may have synergic effects in atherosclerosis which should be tested in a larger cohort.

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Abstract W P121: Patterns Of Vessel Involvement In Patients With Intracranial Atherosclerosis Across Ages

Stroke ◽

10.1161/str.46.suppl_1.wp121 ◽

2015 ◽

Vol 46 (suppl_1) ◽

Author(s):

Tamara Strohm ◽

Russell Cerejo ◽

Jason Mathew ◽

Irene Katzan ◽

Ken Uchino

Keyword(s):

Risk Factors ◽

Older Patients ◽

Age Groups ◽

Vascular Risk Factors ◽

Posterior Circulation ◽

Intracranial Stenosis ◽

Intracranial Atherosclerosis ◽

Vascular Risk ◽

Basilar Arteries ◽

Vessel Involvement

Introduction: Intracranial atherosclerosis has been well studied in the aging population, much less is known about atherosclerotic stenosis in the young. Clinicians seek to control traditional vascular risk factors in this population, but differences in patterns of stenosis may call for varied treatment approaches. This study sought to compare age to the distribution of vessel involvement in patients with moderate-severe intracranial stenosis. Methods: This is a retrospective cohort study of patients with intracranial stenosis seen in the stroke clinic of a tertiary center from 2008-2013. Inclusion criteria were moderate-severe intracranial stenosis clinically felt to be due to atherosclerosis with ≥3 traditional vascular risk factors. Patients with other mechanisms of intracranial stenosis were excluded. Stenosis location and severity were based on cerebral angiography, CTA, or MRA. Patients were divided into young (< 50 yr), middle-age (51-64 yr), or older (≥ 65 yr). All 69 patients ≤50 yr were included; a random sample of 69 patients > 50 were selected for this analysis. Results: There were similar rates of vascular risk factors except HTN, which was less common in the young group (81.2% young, 100% middle, 96.8% older, p=0.0006). The location of stenoses varied by age category. Older patients had more posterior circulation involvement compared to the younger groups (p = 0.046), with more frequent involvement of vertebral and basilar arteries (p = 0.012) (Table). The occurrence of stenosis in the distal ICA and MCA vessels were similar among age groups. The frequency of ACA stenosis was highest in the young category (p = 0.026). Conclusion: There are differences in anatomic locations of presumed intracranial atherosclerosis across age groups with older patients (> 65 yrs) having a higher rate of posterior circulation disease. This suggests potential differences in pathophysiological mechanisms. These findings warrant further investigation.

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Abstract WMP71: Moyamoya-atherosclerosis Syndrome: Clinical and High-resolution Magnetic Resonance Imaging Features

Stroke ◽

10.1161/str.48.suppl_1.wmp71 ◽

2017 ◽

Vol 48 (suppl_1) ◽

Author(s):

Lian Duan ◽

Wei-Hai Xu ◽

Cong Han

Keyword(s):

Magnetic Resonance Imaging ◽

Risk Factors ◽

Magnetic Resonance ◽

High Resolution ◽

Moyamoya Disease ◽

Treatment Strategies ◽

Diagnostic Process ◽

Imaging Features ◽

Intracranial Atherosclerosis ◽

Resonance Imaging

Introduction: The diagnosis in the patients with angiographic moyamoya findings and atherogenic risk factors is challenging. In this study, we try to incorporate high-resolution magnetic resonance imaging (HRMRI) into the diagnostic process of intracranial atherosclerosis associated moyamoya syndrome. Methods: From March 2013 to March 2014, HRMRI was consecutively performed on adult patients with angiographic moyamoya. The patients were classified as moyamoya - plaques (MMD-P) if a plaque could be identified or as moyamoya - no plaques (MMD-NP) if a plaque could not be identified. The angiography, HRMRI findings and atherogenic risk factors of these patients were analyzed. Results: Fifty-one patients (mean age 39±9, 20 males) were enrolled. On traditional angiography, probable intracranial atherosclerosis was identified in 5 patients, no definite diagnosis in 12 patients, and moyamoya disease in 34 patients. On HRMRI, 15 out of 32 patients with risk factors and 4 out of 19 patients without risk factors were found to have plaques and were diagnosed as MMD-P, while the other 32 patients were diagnosed as MMD-NP. The MMD-P patients were more likely to be older and male and were less likely to have cerebral hemorrhage and a history of disease progression. Conclusions: Our study suggests that HRMRI can help diagnose intracranial atherosclerosis more accurately in moyamoya disease patients with atherogenic risk factors. The distinct clinical features between MMD-P and MMD-NP patients suggest different underlying pathophysiology and therefore potentially different treatment strategies.

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