Autoimmunity in Down’s Syndrome: Another Possible Mechanism of Moyamoya Disease

Leno, Carlos; Mateo, Ignacio; Cid, Carmen Miranda; Berciano, José; Sedano, Carmen

doi:10.1161/01.str.29.4.868

Cited by 43 publications

(41 citation statements)

References 5 publications

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“…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: 55%

“…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: 61%

“…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: 55%

Section: Discussionmentioning

confidence: 61%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

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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“…Idiopathic moyamoya syndrome has been associated with antiphospholipid antibodies, 29 and our series included 3 patients with endocrine abnormalities, including 1 patient with both autoimmune hypothyroidism (Hashimoto's thyroiditis) and non-insulin-dependent (type 2) diabetes mellitus and 2 patients with hyperthyroidism (Graves' disease). Down syndrome may, through its constellation of associated systemic manifestations, expose patients to the cumulative effects of other associated risk factors for moyamoya syndrome and thereby increase the patients' susceptibility to the disease.…”

Section: Mechanisms Of Pathogenesismentioning

confidence: 99%

Moyamoya Syndrome Associated With Down Syndrome: Outcome After Surgical Revascularization

Jea¹,

Smith²,

Robertson

et al. 2005

Pediatrics

136

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ABSTRACT. Objectives. This study was undertaken to describe the clinical, radiologic, and angiographic features of moyamoya syndrome in a surgical series of children and adults with Down syndrome. We wished to define the features of moyamoya syndrome associated with Down syndrome and to determine the results of surgical revascularization among these patients at early and late follow-up times.Methods. We reviewed the clinical, radiologic, and angiographic records of all patients with moyamoya syndrome associated with Down syndrome, as a subset of a previously reported, consecutive series of patients who underwent cerebral revascularization surgery with a standardized surgical procedure, pial synangiosis, between January 1, 1985, and June 30, 2004.Results. Of 181 patients with moyamoya syndrome from the initial series who were treated surgically during the study period, 16 patients had Down syndrome (10 female patients and 6 male patients). The average age at onset was 9.3 years (range: 1-29 years); the average age at the time of surgery was 9.8 years (range: 2-29 years). Although the presenting symptoms were transient ischemic attacks for 10 patients and strokes for 6 patients, computed tomographic and/or MRI scans demonstrated bilateral infarctions for 9 patients and unilateral infarctions for 6, with only 1 patient having no imaging evidence of a previous stroke. No cases presented with intracerebral hemorrhage. Preoperative angiography showed the presence of bilateral moyamoya syndrome changes for all patients, including posterior circulation involvement for 8 patients. Surgical treatment included pial synangiosis for all patients, although 1 patient underwent a superficial temporal artery-middle cerebral artery bypass in the contralateral hemisphere. Surgical complications included symptomatic subdural hematomas requiring evacuation, at 48 days and 54 days postoperatively (2 cases), seizures (2 cases), and strokes within 30 days after surgery, at 1 day and 7 days postoperatively (2 cases). Late clinical and radiologic follow-up data (average: 67.6 months; range: 6 -146 months) demonstrated no worsening in neurologic status for any patient except for 1 patient who developed a seizure disorder with associated chronic hypocalcemia; she was totally dependent at the 10-year follow-up evaluation, despite no evidence of new infarction since her surgery. There was no clinical or radiologic evidence of new infarction for any patient in late follow-up evaluations. Postoperative angiography, conducted 1 year after surgery for 11 patients, revealed radiologic evidence of good to excellent cerebral revascularization in 85% of the surgically treated hemispheres. Patients were maintained on lifetime aspirin therapy.Conclusions. The clinical, radiologic, and angiographic features of moyamoya syndrome associated with Down syndrome seem comparable to those of primary moyamoya disease. Cerebral revascularization surgery with the pial synangiosis technique seems to confer long-lasting protection against additional strokes in thi...

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“…Várias hipóteses têm sido propostas para explicar a patogênese da associação SMM-SD; o processo seria decorrente de anomalia do desenvolvimento vascular 23 , reação vascular inespecífica, secundá-ria a ampla variedade de fatores associados a danos ou defeitos genéticos 4 , distúrbio na permeabilidade ou na regulação do sistema nervoso autônomo capilar 5 , proteínas situadas no cromossomo 21 afetando a fisiologia arterial 24 , autoimunidade 25 . Assim, a doença exibe polimorfismo genético, sugerindo a existência de elo com algumas doenças, parecendo excluir a ocorrência de " locus" genético único 26 .…”

Section: Idade Deunclassified

Síndrome de Down e Moyamoya: estudo através de metanálise

Junqueira

Moura-Ribeiro

2002

Arq. Neuro-Psiquiatr.

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RESUMO -Apresentamos o estudo clínico-epidemiológico de dois pacientes e metanálise (período 1977-2000) sobre a comorbidade entre síndrome de Down (SD) e síndrome de "moyamoya" (SMM). Entre os 42 pacientes catalogados no presente estudo, a metanálise permitiu verificar: maior número de publicações de pesquisadores do Japão e Estados Unidos, seguidos pelo Brasil e Itália; predomínio do acidente vascular cerebral (AVC) em lactentes e pré-escolares; sintomatologia inaugural, hemiparesia (78,6%), distúrbio da fala (26,2%); predomínio de infarto isquêmico (76,2%); episódios isquêmicos recorrentes (62%); comprometimento bilateral (83,3%). Esta análise permitiu concluir que, na investigação clínico-neurológica de pacientes com SD e episódios de hemiparesia aguda, a SMM deve ser incluída como diagnóstico mais provável . PALAVRAS-CHAVE: doença cerebrovascular, síndrome de Down, moyamoya. Moyamoya and Down syndrome: study conducted by meta-analysisABSTRACT -We present a clinic-epidemiological study of two patients and meta-analysis (period 1977-2000 ) of the co-morbidity of the Down syndrome (DS) and moyamoya syndrome (MMS). Among the 42 patients listed in this survey, meta-analysis permitted to find the highest number of publications by researchers from Japan and United States, followed by Brazil and Italy; prevalence of cerebrovascular disease in suckling and pre school children; first symptomatology was hemiparesis (78.6%), speech disorders (26.2%); ischemic infarction (76.2%); recurring ischemic episodes (62%); bilateral impairment (83.3%). This analysis led to the conclusion that in the clinic-neurological investigation of DS patients with acute hemiparesis episodes, MMS should be included as the most probable diagnosis.KEY WORDS: cerebrovascular diseases, Down syndrome, moyamoya syndrome. Dr. Paulo Alves Junqueira -Rua Mário Borin 500 -13209-030 Jundiaí SP -Brasil. E-mail: ppaj@terra.com.brPacientes com diagnóstico de síndrome de Down (SD) e anormalidades cerebrovasculares semelhantes às detectadas na doença "moyamoya" têm sido sistematicamente relatadas na literatura nos últimos 20 anos. Fukushima e col.¹ encontraram um caso de síndrome de "moyamoya" (SMM) dentre 532 pacientes com SD e Nishimura e col.² um entre 400. Segundo Kawai³ estes dados são três vezes superiores à incidência da doença "moyamoya" na população geral. Em 1977, Schrager e col. 4 publicaram o primeiro caso desta associação, relatando o estudo de menina de três anos que desenvolveu hemiplegia aguda acompanhada de cegueira cortical. É importante realçar que, no Brasil, Schultz e col.5 , em 1981, documentaram o segundo caso da literatura, tecendo considerações sobre a etiopatogenia desta associação.Atualmente, no consenso para o diagnóstico da doença "moyamoya", indicados pelo Comitê de Pesquisa do Japão (1988) é necessário o preenchimento dos seguintes critérios: 1-Estenose ou oclusão da artéria carótida interna ou das artérias cerebrais anterior e média; 2-Rede vascular anormal, identificada durante a fase arterial da angiografia; 3-Comprometi...

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Autoimmunity in Down’s Syndrome: Another Possible Mechanism of Moyamoya Disease

Cited by 43 publications

References 5 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

Moyamoya Syndrome Associated With Down Syndrome: Outcome After Surgical Revascularization

Síndrome de Down e Moyamoya: estudo através de metanálise

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