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Moyamoya disease

MedGen UID:
7726
Concept ID:
C0026654
Disease or Syndrome
Synonym: Moyamoya syndrome
SNOMED CT: Moyamoya disease (69116000); Progressive intracranial arterial occlusion (89142007)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0016820
OMIM® Phenotypic series: PS252350
Orphanet: ORPHA2573

Definition

Moyamoya is the name given to a cerebral angiographic picture of bilateral intracranial carotid artery occlusion associated with telangiectatic vessels in the region of the basal ganglia. The Japanese word moyamoya means 'something hazy like a puff of cigarette smoke, drifting in the air.' Hemiplegia of sudden onset and epileptic seizures constitute the prevailing presentation in childhood, while subarachnoid bleeding occurs more frequently in adults (summary by Suzuki, 1986). Genetic Heterogeneity of Moyamoya Disease The MYMY1 locus maps to chromosome 3p. See also susceptibility to moyamoya disease-2 (MYMY2; 607151), caused by variation in the RNF213 gene (613768) on chromosome 17q25; MYMY3 (608796), which maps to chromosome 8q23; MYMY5 (614042), caused by mutation in the ACTA2 gene (102620) on chromosome 10q23; MYMY6 with achalasia (615750), caused by mutation in the GUCY1A3 gene (139396) on chromosome 4q32; and MYMY7 (620687), caused by mutation in the ANO1 gene (610108) on chromosome 11q13. See also MYMY4 (300845), an X-linked recessive syndromic disorder characterized by moyamoya disease, short stature, hypergonadotropic hypogonadism, and facial dysmorphism. [from OMIM]

Additional description

From MedlinePlus Genetics
Moyamoya disease is a disorder of blood vessels in the brain, specifically the internal carotid arteries and the arteries that branch from them. These vessels, which provide oxygen-rich blood to the brain, narrow over time. Narrowing of these vessels reduces blood flow in the brain. In an attempt to compensate, new networks of small, fragile blood vessels form. These networks, visualized by a particular test called an angiogram, resemble puffs of smoke, which is how the condition got its name: "moyamoya" is an expression meaning "something hazy like a puff of smoke" in Japanese.

Moyamoya disease commonly begins either around age 5 or in a person's thirties or forties. A lack of blood supply to the brain leads to several symptoms of the disorder, including temporary stroke-like episodes (transient ischemic attacks), strokes, and seizures. In addition, the fragile blood vessels that grow can develop bulges (aneurysms), or they can break open, leading to bleeding (hemorrhage) in the brain. Affected individuals may develop recurrent headaches, involuntary jerking movements (chorea), or a decline in thinking ability. The symptoms of moyamoya disease often worsen over time if the condition is not treated.

Some people have the blood vessel changes characteristic of moyamoya disease in addition to features of another disorder, such as neurofibromatosis type 1, sickle cell disease, or Graves' disease. These individuals are said to have moyamoya syndrome.  https://medlineplus.gov/genetics/condition/moyamoya-disease

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMoyamoya disease

Professional guidelines

PubMed

Fujimura M, Tominaga T, Kuroda S, Takahashi JC, Endo H, Ogasawara K, Miyamoto S; Research Committee on Moyamoya Disease (Spontaneous Occlusion of Circle of Willis) of the Ministry of Health, Labor Welfare, Japan; Guideline Committee 2021 of the Japan Stroke Society
Neurol Med Chir (Tokyo) 2022 Apr 15;62(4):165-170. Epub 2022 Feb 22 doi: 10.2176/jns-nmc.2021-0382. PMID: 35197402Free PMC Article
Zhang X, Xiao W, Zhang Q, Xia D, Gao P, Su J, Yang H, Gao X, Ni W, Lei Y, Gu Y
Curr Neuropharmacol 2022;20(2):292-308. doi: 10.2174/1570159X19666210716114016. PMID: 34279201Free PMC Article
Acker G, Fekonja L, Vajkoczy P
Stroke 2018 Feb;49(2):476-482. Epub 2018 Jan 17 doi: 10.1161/STROKEAHA.117.018563. PMID: 29343587

Recent clinical studies

Etiology

Gonzalez NR, Amin-Hanjani S, Bang OY, Coffey C, Du R, Fierstra J, Fraser JF, Kuroda S, Tietjen GE, Yaghi S; American Heart Association Stroke Council; Council on Cardiovascular and Stroke Nursing; and Council on Clinical Cardiology
Stroke 2023 Oct;54(10):e465-e479. Epub 2023 Aug 23 doi: 10.1161/STR.0000000000000443. PMID: 37609846
Ihara M, Yamamoto Y, Hattori Y, Liu W, Kobayashi H, Ishiyama H, Yoshimoto T, Miyawaki S, Clausen T, Bang OY, Steinberg GK, Tournier-Lasserve E, Koizumi A
Lancet Neurol 2022 Aug;21(8):747-758. Epub 2022 May 20 doi: 10.1016/S1474-4422(22)00165-X. PMID: 35605621
Gross WL, Sacho RH
Anesthesiol Clin 2021 Mar;39(1):1-18. Epub 2021 Jan 9 doi: 10.1016/j.anclin.2020.10.001. PMID: 33563374
Mejia-Munne JC, Ellis JA, Feldstein NA, Meyers PM, Connolly ES
World Neurosurg 2017 Apr;100:575-578. Epub 2017 Jan 16 doi: 10.1016/j.wneu.2017.01.012. PMID: 28093343
Fukui M, Kono S, Sueishi K, Ikezaki K
Neuropathology 2000 Sep;20 Suppl:S61-4. doi: 10.1046/j.1440-1789.2000.00300.x. PMID: 11037190

Diagnosis

Gonzalez NR, Amin-Hanjani S, Bang OY, Coffey C, Du R, Fierstra J, Fraser JF, Kuroda S, Tietjen GE, Yaghi S; American Heart Association Stroke Council; Council on Cardiovascular and Stroke Nursing; and Council on Clinical Cardiology
Stroke 2023 Oct;54(10):e465-e479. Epub 2023 Aug 23 doi: 10.1161/STR.0000000000000443. PMID: 37609846
Asselman C, Hemelsoet D, Eggermont D, Dermaut B, Impens F
Trends Mol Med 2022 Nov;28(11):939-950. Epub 2022 Sep 14 doi: 10.1016/j.molmed.2022.08.009. PMID: 36115805
Ihara M, Yamamoto Y, Hattori Y, Liu W, Kobayashi H, Ishiyama H, Yoshimoto T, Miyawaki S, Clausen T, Bang OY, Steinberg GK, Tournier-Lasserve E, Koizumi A
Lancet Neurol 2022 Aug;21(8):747-758. Epub 2022 May 20 doi: 10.1016/S1474-4422(22)00165-X. PMID: 35605621
Shang S, Zhou D, Ya J, Li S, Yang Q, Ding Y, Ji X, Meng R
Neurosurg Rev 2020 Apr;43(2):371-382. Epub 2018 Jun 18 doi: 10.1007/s10143-018-0994-5. PMID: 29911252
Scott RM, Smith ER
N Engl J Med 2009 Mar 19;360(12):1226-37. doi: 10.1056/NEJMra0804622. PMID: 19297575

Therapy

Bersano A, Khan N, Fuentes B, Acerbi F, Canavero I, Tournier-Lasserve E, Vajcoczy P, Zedde ML, Hussain S, Lémeret S, Kraemer M, Herve D
Eur Stroke J 2023 Mar;8(1):55-84. Epub 2023 Feb 2 doi: 10.1177/23969873221144089. PMID: 37021176Free PMC Article
Lehman LL, Kaseka ML, Stout J, See AP, Pabst L, Sun LR, Hassanein SA, Waak M, Vossough A, Smith ER, Dlamini N
Semin Pediatr Neurol 2022 Oct;43:101002. Epub 2022 Sep 15 doi: 10.1016/j.spen.2022.101002. PMID: 36344019
Fujimura M, Bang OY, Kim JS
Front Neurol Neurosci 2016;40:204-220. Epub 2016 Dec 2 doi: 10.1159/000448314. PMID: 27960175
Wan M, Duan L
Br J Neurosurg 2015 Apr;29(2):189-91. Epub 2014 Nov 3 doi: 10.3109/02688697.2014.976177. PMID: 25365664
Parray T, Martin TW, Siddiqui S
J Neurosurg Anesthesiol 2011 Apr;23(2):100-9. doi: 10.1097/ANA.0b013e3181f84fac. PMID: 20924291

Prognosis

Appireddy R, Ranjan M, Durafourt BA, Riva-Cambrin J, Hader WJ, Adelson PD
J Child Neurol 2019 Aug;34(9):517-529. Epub 2019 May 8 doi: 10.1177/0883073819844854. PMID: 31066331
Barnaure I, Liberato AC, Gonzalez RG, Romero JM
Br J Radiol 2017 Jan;90(1069):20160779. Epub 2016 Dec 8 doi: 10.1259/bjr.20160779. PMID: 27805421Free PMC Article
Portegies ML, Koudstaal PJ, Ikram MA
Handb Clin Neurol 2016;138:239-61. doi: 10.1016/B978-0-12-802973-2.00014-8. PMID: 27637962
Parray T, Martin TW, Siddiqui S
J Neurosurg Anesthesiol 2011 Apr;23(2):100-9. doi: 10.1097/ANA.0b013e3181f84fac. PMID: 20924291
Suzuki J, Takaku A
Arch Neurol 1969 Mar;20(3):288-99. doi: 10.1001/archneur.1969.00480090076012. PMID: 5775283

Clinical prediction guides

Kuroda S, Yamamoto S, Funaki T, Fujimura M, Kataoka H, Hishikawa T, Takahashi J, Endo H, Nariai T, Osato T, Saito N, Sato N, Hori E, Ito YM, Miyamoto S; AMORE Study Group
Stroke 2023 Jun;54(6):1494-1504. Epub 2023 May 22 doi: 10.1161/STROKEAHA.122.041932. PMID: 37216455
Fang YC, Wei LF, Hu CJ, Tu YK
Int J Mol Sci 2021 Feb 8;22(4) doi: 10.3390/ijms22041696. PMID: 33567654Free PMC Article
Church EW, Bell-Stephens TE, Bigder MG, Gummidipundi S, Han SS, Steinberg GK
Neurosurgery 2020 Nov 16;87(6):1262-1268. doi: 10.1093/neuros/nyaa284. PMID: 32710766
Rocha EA, Topcuoglu MA, Silva GS, Singhal AB
Neurology 2019 Feb 12;92(7):e639-e647. Epub 2019 Jan 11 doi: 10.1212/WNL.0000000000006917. PMID: 30635475
Fujimura M, Bang OY, Kim JS
Front Neurol Neurosci 2016;40:204-220. Epub 2016 Dec 2 doi: 10.1159/000448314. PMID: 27960175

Recent systematic reviews

Singh R, Bauman MMJ, Seas A, Harrison DJ, Pennington Z, Brown NJ, Gendreau J, Rahmani R, Ellens N, Catapano J, Lawton MT
Neurosurg Rev 2023 Sep 2;46(1):220. doi: 10.1007/s10143-023-02123-z. PMID: 37658996
Nguyen VN, Motiwala M, Elarjani T, Moore KA, Miller LE, Barats M, Goyal N, Elijovich L, Klimo P, Hoit DA, Arthur AS, Morcos JJ, Khan NR
Stroke 2022 Dec;53(12):3572-3582. Epub 2022 Sep 22 doi: 10.1161/STROKEAHA.122.039584. PMID: 36134563
Gross BA, Thomas AJ, Frerichs KU
Neurosurg Rev 2014 Oct;37(4):579-83. Epub 2014 Apr 3 doi: 10.1007/s10143-014-0542-x. PMID: 24696002
Ma J, Liu Y, Ma L, Huang S, Li H, You C
Neurol India 2013 Jan-Feb;61(1):35-9. doi: 10.4103/0028-3886.107927. PMID: 23466837
Weinberg DG, Rahme RJ, Aoun SG, Batjer HH, Bendok BR
Neurosurg Focus 2011 Jun;30(6):E21. doi: 10.3171/2011.3.FOCUS1150. PMID: 21631223

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