Differences in Clinical Features among Different Onset Patterns in Moyamoya Disease

Hirano, Yuko; Miyawaki, Satoru; Imai, Hideki; Hongo, Hiroki; Teranishi, Yu; Dofuku, Shogo; Ishigami, Daiichiro; Ohara, Kenta; Koizumi, Satoshi; Ono, Hideaki; Nakatomi, Hirofumi; Saito, Nobuhito

doi:10.3390/jcm10132815

Cited by 15 publications

(9 citation statements)

References 95 publications

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“…Patients with MMD can present with various symptoms, mainly classified as cerebral ischemia, cerebral hemorrhages, and others. 38,39 However, improved screening methods have increased the number of patients with MMD without obvious clinical symptoms. 36 The molecular etiology and natural progression of MMD and the lack of effective animal models necessitate a large cohort study to summarize clinical characteristics and explore possible pathogenic mechanisms.…”

Section: Discussionmentioning

confidence: 99%

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Chinese moyamoya disease study:cohort profile

Hao

Han²,

Gao

et al. 2023

Preprint

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Abstract<break><break>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.<break><break>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.<break><break>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%).<break><break>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.<break><break>Clinical Trial Registration: This study has been registered in the Chinese Clinical trial registry (registration number: ChiCTR2200064160).

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Chinese moyamoya disease study:cohort profile

Hao

Han²,

Gao

et al. 2023

Preprint

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“…MMD symptoms can vary in severity, ranging from transient ischemic attacks to persistent neurological deficits such as motor impairment, speech, sensory and consciousness disturbances, headache, movement disorders and convulsions [ 13 ]. Individuals displaying NF1 should be closely monitored for the possible development of MMD and MMS, and prompt treatment should be initiated if these conditions are detected.…”

Section: Introductionmentioning

confidence: 99%

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213

Ognibene

Scala

Iacomino

et al. 2023

Cancers

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Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by mutations in NF1 gene, coding for neurofibromin 1. NF1 can be associated with Moyamoya disease (MMD), and this association, typical of paediatric patients, is referred to as Moyamoya syndrome (MMS). MMD is a cerebral arteriopathy characterized by the occlusion of intracranial arteries and collateral vessel formation, which increase the risk of ischemic and hemorrhagic events. RNF213 gene mutations have been associated with MMD, so we investigated whether rare variants of RNF213 could act as genetic modifiers of MMS phenotype in a pediatric cohort of 20 MMS children, 25 children affected by isolated MMD and 47 affected only by isolated NF1. By next-generation re-sequencing (NGS) of patients’ DNA and gene burden tests, we found that RNF213 seems to play a role only for MMD occurrence, while it does not appear to be involved in the increased risk of Moyamoya for MMS patients. We postulated that the loss of neurofibromin 1 can be enough for the excessive proliferation of vascular smooth muscle cells, causing Moyamoya arteriopathy associated with NF1. Further studies will be crucial to support these findings and to elucidate the possible role of other genes, enhancing our knowledge about pathogenesis and treatment of MMS.

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“…Moyamoya disease is also characterized by diverse forms of onset, clinical manifestations, and imaging features. 3 Four clinical presentations of MMD can include ischemic, hemorrhagic, epileptic, and other. 4 An ischemic event is the most common form of MMD, especially in children, in contrast to the hemorrhagic form that occur mainly in adults.…”

Section: Introductionmentioning

confidence: 99%

“…MMD mainly affects East Asian populations such as those in Japan, Korea, and China, 2 but its etiology is still unclear. Moyamoya disease is also characterized by diverse forms of onset, clinical manifestations, and imaging features 3 . Four clinical presentations of MMD can include ischemic, hemorrhagic, epileptic, and other 4 .…”

Section: Introductionmentioning

confidence: 99%

Ischemic patterns and their angiographic risk factors in adult patients with moyamoya disease

Luo,

Zhan,

Zhang

et al. 2023

Ann Clin Transl Neurol

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ObjectiveThe present study aims to determine whether angiographic differences increase the risk of ischemic pattern among adult patients with moyamoya disease (MMD).MethodsFrom January 2020 to December 2021, we retrospectively enrolled 123 ischemic or asymptomatic adult patients diagnosed as MMD. Angiographic changes including Suzuki stage, moyamoya vessels, anterior choroidal artery (AChoA) dilatation, lenticulostriate artery (LSA) dilatation, posterior communicating artery (PcomA) dilatation, and posterior cerebral artery (PCA) involvement were evaluated for all patients.ResultsAmong the 123 participants, 35 ischemic patients and 88 asymptomatic patients were analyzed. There was no significant difference of Suzuki stage, AChoA dilatation, LSA dilatation, and PcomA dilatation between ischemic group and asymptomatic group. The grading of moyamoya vessels differed significantly but was not a factor associated with ischemic pattern after adjusting multiple related confounders. However, the frequency of PCA steno‐occlusive changes in ischemic patients was statistically higher than that in asymptomatic patients (54.3% vs 34.1%, p = 0.039). Furthermore, PCA involvement was a risk factor associated with ischemic form and remained statistically significant after the multivariate adjustment (p = 0.033, 95% CI 1.092–8.310).InterpretationPCA involvement is closely related to the presentation of ischemic stroke but other angiographic features had no association with ischemic pattern in adult MMD.

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Differences in Clinical Features among Different Onset Patterns in Moyamoya Disease

Cited by 15 publications

References 95 publications

Chinese moyamoya disease study:cohort profile

Chinese moyamoya disease study:cohort profile

Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213

Ischemic patterns and their angiographic risk factors in adult patients with moyamoya disease

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