Systemic lupus erythematosus associated with moyamoya syndrome: a case report and literature review

Wang, R; Xu, Yongxian; Lü, Rong; Chen, J

doi:10.1177/0961203313485828

Cited by 29 publications

(22 citation statements)

References 11 publications

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“…Moyamoya disease presenting concurrently with other specific autoimmune diseases has also been described in the literature. 2,8,9,13,16,19,23 In this study, autoimmune thyroid diseases, all other autoimmune diseases, and other comorbidities tended to have higher prevalence rates in unilateral MMD patients than in bilateral MMD patients. Nevertheless, no significant differences were observed between unilateral and bilateral MMD with regard to each specific concurrent autoimmune disease, including GD, HT, Type 1 diabetes mellitus, and all other evaluated autoimmune diseases.…”

Section: Discussionmentioning

confidence: 51%

“…Additionally, the authors of these studies hypothesized that there is a potential autoimmune component to the pathogenesis of moyamoya vasculopathy. 2,13,[15][16][17]19,23 In this study, we found that unilateral MMD may be more likely to be associated with autoimmune disease than bilateral MMD. Moreover, these findings suggest that unilateral MMD may be more frequently observed with autoimmune comorbidities.…”

Section: Discussionmentioning

confidence: 54%

“…These results indicate that not only is unilateral MMD associated with autoimmune disease, but bilateral MMD is as well, a conclusion that is consistent with findings of multiple previous studies. 2,13,[15][16][17]19,23 More importantly, we found that unilateral MMD was more likely associated with autoimmune disease than bilateral MMD. Different pathogenetic mechanisms may underlie moyamoya vessel formation in unilateral and bilateral MMD.…”

Section: Discussionmentioning

confidence: 59%

“…13,16,20 Several studies have suggested that an association exists between MMD and autoimmune diseases, including Type 1 diabetes mellitus, AIG, SLE, APAS, APS, PBC, GD, and HT. 2,7,15,17,18,20,22,23,25 Furthermore, several reports have demonstrated that thyroid autoantibodies may be associated with the moyamoya development. 13,15,16 Our study also indicated that autoimmune abnormalities may be associated with pathophysiological mechanisms of moyamoya vasculopathy formation.…”

Section: Discussionmentioning

confidence: 99%

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Increased prevalence of autoimmune disease in patients with unilateral compared with bilateral moyamoya disease

Chen

Liu

Zhou

et al. 2016

JNS

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M oyamoya vasculopathy (MMV) is a disorder that is characterized by stenosis or occlusion of the terminal internal carotid artery (ICA) and the proximal portion of the anterior and/or middle cerebral arteries. Additionally, it is accompanied by net-like collateral vessel formations, which are termed the "moyamoya" vessels.14,18 Moyamoya disease (MMD) is defined by the presence of bilateral MMV with an unknown etiology or the presence of unilateral MMV at 1 side with obvious terminal contralateral ICA stenosis.4 Unilateral MMD is defined by typical angiographic evidence of MMD unilaterally with normal or equivocal contralateral findings. 4The concept that unilateral MMD is an early form of bilateral MMD remains controversial, and the pathogenesis of moyamoya disorders is not fully understood. 7,11,14,18 MMD has been reportedly associated with various entities. 2,8,9,13,16,24 Analysis of the coexisting diseases that occur with moyamoya may be helpful in exploring moyamoya pathogeneses. Several reports have noted MMD in association with autoimmune diseases, including autoim- obJective This study explored whether there were differences between the autoimmune disease prevalence rates in unilateral and bilateral moyamoya disease (MMD). methods The authors performed a retrospective review of data obtained from the medical records of their hospital, analyzing and comparing the clinical characteristics and prevalence rates of all autoimmune diseases that were associated with unilateral and bilateral MMD in their hospital from January 1995 to October 2014. results Three hundred sixteen patients with bilateral MMD and 68 with unilateral MMD were identified. The results indicated that patients with unilateral MMD were more likely to be female than were patients with bilateral MMD (67.6% vs 51.3%, p = 0.014, odds ratio [OR] 1.99). Overall, non-autoimmune comorbidities tended to be more prevalent in the unilateral MMD cases than in the bilateral MMD cases (17.6% vs 9.8%, p = 0.063, OR 1.97, chi-square test). Autoimmune thyroid disease and other autoimmune diseases also tended to be more prevalent in the unilateral MMD cases than in the bilateral MMD cases (19.1% vs 10.8%, p = 0.056, OR 1.96 and 8.8% vs 3.5%, p = 0.092, OR 2.77, respectively, chi-square test). The overall autoimmune disease prevalence in the unilateral MMD cases was significantly higher than in the bilateral MMD cases (26.5% vs 13.6%, p = 0.008, OR 2.29, 95% CI 1.22-4.28, chi-square test). Multiple logistic regression analysis showed that autoimmune disease was more likely to be associated with unilateral than with bilateral MMD (p = 0.039, OR 10.91, 95% CI 1. 13-105.25). coNclusioNs This study indicated a higher overall autoimmune disease prevalence in unilateral than in bilateral MMD. Unilateral MMD may be more associated with autoimmune disease than bilateral MMD. Different pathogenetic mechanisms may underlie moyamoya vessel formation in unilateral and bilateral MMD.

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Section: Discussionmentioning

confidence: 51%

Section: Discussionmentioning

confidence: 54%

Section: Discussionmentioning

confidence: 59%

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Increased prevalence of autoimmune disease in patients with unilateral compared with bilateral moyamoya disease

Chen

Liu

Zhou

et al. 2016

JNS

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“…In cases associated with SLE and MMD, many hypotheses and analyses indicate that MMD aggravation is correlated with disease activity; one case suggests that cessation of immunosuppressive therapy may result in the development of MMD [12]. If BD has a disease pattern similar to SLE, increased disease activity related to stressful events such as psychiatric stress could aggravate MMD.…”

Section: Discussionmentioning

confidence: 99%

Case of Moyamoya Disease Aggravated during the Treatment of Behçet’s Disease

Park

Yoo

et al. 2016

J Rheum Dis

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Behçet's disease (BD) is a multi-organ involved inflammatory disorder described by recurrent oral ulcers and other systemic manifestations. Almost all the clinical manifestations of BD are believed to be due to vasculitis. On the other hand, the cerebral arteries are rarely involved. Moyamoya disease (MMD) is an unusual chronic cerebrovascular disorder that is described by bilateral progressive stenosis or occlusion of the internal carotid artery and an abnormal collateral vascular network. A 32-year-old woman with MMD was referred for fever, oral pain, and diarrhea, and was diagnosed with BD. Her MMD was aggravated during treatment with high dose steroids to control the intestinal BD and a reduction in the MMD medication due to gastrointestinal bleeding. This is the first reported case of intestinal BD in a patient previously diagnosed with MMD, who experienced aggravation of her MMD after the cessation of MMD medication due to aggravated intestinal BD. (J Rheum Dis 2016;23:386-391)

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Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease

et al. 2020

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Human RNF213, which encodes the protein mysterin, is a known susceptibility gene for moyamoya disease (MMD), a cerebrovascular condition with occlusive lesions and compensatory angiogenesis. Mysterin mutations, together with exposure to environmental trigger factors, lead to an elevated stroke risk since childhood. Mysterin is induced during cell stress, to function as cytosolic AAA+ ATPase and ubiquitylation enzyme. Little knowledge exists, in which context mysterin is needed. Here, we found that genetic ablation of several mitochondrial matrix factors, such as the peptidase ClpP, the transcription factor Tfam, as well as the peptidase and AAA+ ATPase Lonp1, potently induces Rnf213 transcript expression in various organs, in parallel with other components of the innate immune system. Mostly in mouse fibroblasts and human endothelial cells, the Rnf213 levels showed prominent upregulation upon Poly(I:C)-triggered TLR3-mediated responses to dsRNA toxicity, as well as upon interferon gamma treatment. Only partial suppression of Rnf213 induction was achieved by C16 as an antagonist of PKR (dsRNA-dependent protein kinase). Since dysfunctional mitochondria were recently reported to release immune-stimulatory dsRNA into the cytosol, our results suggest that mysterin becomes relevant when mitochondrial dysfunction or infections have triggered RNA-dependent inflammation. Thus, MMD has similarities with vasculopathies that involve altered nucleotide processing, such as Aicardi-Goutières syndrome or systemic lupus erythematosus. Furthermore, in MMD, the low penetrance of RNF213 mutations might be modified by dysfunctions in mitochondria or the TLR3 pathway.

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Systemic lupus erythematosus associated with moyamoya syndrome: a case report and literature review

Cited by 29 publications

References 11 publications

Increased prevalence of autoimmune disease in patients with unilateral compared with bilateral moyamoya disease

Increased prevalence of autoimmune disease in patients with unilateral compared with bilateral moyamoya disease

Case of Moyamoya Disease Aggravated during the Treatment of Behçet’s Disease

Loss of mitochondrial ClpP, Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease

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