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Uncovering the genetic architecture of paediatric moyamoya angiopathy: implications for disease pathogenesis

European Journal of Human Genetics volume 31, pages 733–734 (2023)Cite this article

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The Original Article was published on 04 April 2023

The genetic landscape and clinical implications of paediatric Moyamoya angiopathy in an international cohort. Zanoni et al. [1].

Moyamoya angiopathy (MMA) is a rare cerebrovascular disease characterised by chronic progressive stenosis of the terminal portion of the internal carotid artery. This mechanism leads to the compensatory development of collateral vessel networks around the basal ganglia, which resemble a “puff of smoke” (moyamoya in Japanese) and are angiographically termed moyamoya vessels [2]. Disease onset presents a bimodal distribution, with a significant peak in childhood and a moderate rise at 30–40 years old in adulthood [3]. Paediatric MMA develops with transient ischaemic attacks or stroke. Recurrent or chronic brain ischaemia can lead to brain atrophy, resulting in mental illness or retardation [2]. Paediatric MMA is not a common disease; however, it accounts for as much as one-fifth of identifiable cerebral arteriopathies [4].

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References

  1. Zanoni PS, Sticht H, Oneda B, Joset, P, Ivanovski I, Horn, AHC, et al. The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort. Eur J Hum Genet. 2023. https://doi.org/10.1038/s41431-023-01320-0.

  2. Ihara M, Yamamoto Y, Hattori Y, Liu W, Kobayashi H, Ishiyama H, et al. Moyamoya disease: Diagnosis and interventions. Lancet Neurol. 2022;21:747–58.

    Article  CAS  PubMed  Google Scholar 

  3. Kim JS. Moyamoya disease: Epidemiology, clinical features, and diagnosis. J Stroke. 2016;18:2–11.

    Article  PubMed  PubMed Central  Google Scholar 

  4. Amlie-Lefond C, Bernard TJ, Sébire G, Friedman N, Heyer G, Lerner N, et al. Predictors of cerebral arteriopathy in children with arterial ischemic stroke: results of the International Pediatric Stroke Study. Circulation. 2009;119:1417–23.

    Article  PubMed  PubMed Central  Google Scholar 

  5. Kuroda S, Fujimura M, Takahashi J, Kataoka H, Ogasawara K, Iwama T, et al. Diagnostic criteria for Moyamoya disease - 2021 revised version. Neurol Med Chir. 2022;62:307–12.

    Article  Google Scholar 

  6. Mitri F, Bersano A, Hervé D, Kraemer M. Cutaneous manifestations in Moyamoya angiopathy: A review. Eur J Neurol. 2021;28:1784–93.

    Article  PubMed  Google Scholar 

  7. Duat-Rodríguez A, Lechón F, Pino M, Fernández C, González-Gutiérrez-Solana L. Neurofibromatosis type 1 associated with moyamoya syndrome in children. Pediatr Neurol. 2014;50:96–8.

    Article  PubMed  Google Scholar 

  8. D’Amico A, Ugga L, Cocozza S, Giorgio S, Cicala D, Santoro C, et al. Multimodal evaluation of the cerebrovascular reserve in Neurofibromatosis type 1 patients with Moyamoya syndrome. Neurol Sci. 2021;42:655–63.

    Article  PubMed  Google Scholar 

  9. Morimoto T, Mineharu Y, Kobayashi H, Harada K, Fumaki T, Takagi Y, et al. Significant association of the RNF213 p.R4810K polymorphism with Quasi-Moyamoya disease. J Stroke Cerebrovasc Dis. 2016;25:2632–6.

    Article  PubMed  Google Scholar 

  10. Tzeravini E, Samara S, Kouramba A, Vakrinos G, Efthimiou A, Tzetis M, et al. Severe Hemophilia A and Moyamoya Syndrome in a 19-year-old boy caused by Xq28 Microdeletion. Case Rep. Neurol. 2022;14:261–7.

    Article  PubMed  PubMed Central  Google Scholar 

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Authors and Affiliations

  1. Department of Neurology, National Cerebral and Cardiovascular Center, Osaka, Japan

    Hiroyuki Ishiyama & Masafumi Ihara

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  1. Hiroyuki Ishiyama
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  2. Masafumi Ihara
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HI and MI contributed to the writing of this article.

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Correspondence to Masafumi Ihara.

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Ishiyama, H., Ihara, M. Uncovering the genetic architecture of paediatric moyamoya angiopathy: implications for disease pathogenesis. Eur J Hum Genet 31, 733–734 (2023). https://doi.org/10.1038/s41431-023-01353-5

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