Genetics of Moyamoya disease

Röder, Constantin; Nayak, Natasha V.; Khan, Nadia; Tatagiba, Marcos; Inoue, Ituro; Krischek, Boris

doi:10.1038/jhg.2010.103

Cited by 42 publications

(32 citation statements)

References 46 publications

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“…In combination with the high incidence of MMD in Japan, this suggests a genetic contribution to MMD. Several linkage studies in Japanese patients suggested chromosome 17q25 as a region of interest,25 and a strong association with the RFN213 gene on this chromosome was found in a recent genome wide association study in 72 Japanese MMD patients versus 45 controls 26. Recently, mutations in the ACTA2 gene were found to be associated with a variety of vascular diseases, including thoracic aortic aneurysms and dissections (TAAD), premature coronary artery disease and also MMD in American patients of Northern European descent and a positive family history for TAAD and MMD 27.…”

Section: Discussionmentioning

confidence: 99%

Regional differences in incidence and patient characteristics of moyamoya disease: a systematic review

Kleinloog

Regli

Rinkel

et al. 2012

J Neurol Neurosurg Psychiatry

138

100

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Section: Discussionmentioning

confidence: 99%

Regional differences in incidence and patient characteristics of moyamoya disease: a systematic review

Kleinloog

Regli

Rinkel

et al. 2012

J Neurol Neurosurg Psychiatry

138

100

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“…1,14,37,52,73) Evidence for a genetic contribution to moyamoya disease is suggested by strong regional differences with a high occurrence in Asian countries (primarily Japan and Korea) and much smaller rates in Western countries, as well as with many familial occurrences and high incidence in concordant monozygotic twins. 12,37,50,52) Further evidence shows that the female to male ratio rises from 1.6:1 in sporadic cases to 5.0:1 in familial cases; and the mean age of onset drops from 30.0 years in sporadic cases to 11.8 years in familial cases.…”

Section: Geneticsmentioning

confidence: 99%

Review of Past Research and Current Concepts on the Etiology of Moyamoya Disease

Houkin

Ito

Sugiyama

et al. 2012

Neurol. Med. Chir.(Tokyo)

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Research on moyamoya disease has progressed remarkably in the past several decades. Indeed, many new facts concerning the epidemiology of the disease have been revealed and surgical treatments have been drastically improved. However, despite extensive research, the mechanism of moyamoya disease is still unknown. Consequently, the cardinal treatment of this disease has not yet been developed. For further clarification of its etiology, innovative studies are therefore indispensable. The aim of this paper is to review research on the pathogenesis of moyamoya disease to identify milestones in the direction of its true solution. Many hypotheses of the pathogenesis of moyamoya disease have been proposed in the past half century, including infection (viral and bacterial), autoimmune disorders, proteins abnormality, and gene abnormality. Some of these are now considered to be historical achievements. Others, however, can be still subjected to contemporary research. Currently, several genetic abnormalities are considered to offer the most probable hypothesis. In addition, interesting papers have been presented on the role of the endothelial progenitor cell on the pathogenesis of moyamoya disease. Intuitively, however, it appears that a single theory cannot always explain the pathogenesis of this disease adequately. In other words, the complex mechanism of several factors may comprehensively explain the formation of moyamoya disease. The``double hit hypothesis'' is probably the best explanation for the complicated pathology and epidemiology of this disease.

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“…1,2 The genetic causes of the abnormal cerebral vessel intimal thickening and disruption in moyamoya, regardless of associated disease, may offer clues to both pediatric stroke and atherosclerotic disease more broadly. 10,11 Lastly, we confirmed the importance in primary care of a comprehensive genetic evaluation for developmental delay as well as complete genetic evaluation of patients presenting with moyamoya. 17,18 In particular, the bilateral hearing loss, developmental delay, and atypical facies in our patient warranted further chromosomal analysis independent of moyamoya presentation.…”

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confidence: 49%

“…10 Genetic influences in moyamoya have been studied in twin, linkage, and identification analyses 11,12 in various ethnic groups, but no consistent finding has emerged. 10,12 This suggests both heterogeneity and epigenetic influences in moyamoya among different ethnic groups, with candidate mutations affecting human leukocyte antigen (HLA)-related genes (6p21), 13 neurofibromatosis-linked genes (17q25), 14 and metalloproteinase inhibitor genes involved in collagen vascular architecture (3p24).…”

mentioning

confidence: 99%

Complex Chromosome Rearrangement of 6p25.3->p23 and 12q24.32->qter in a Child With Moyamoya

Rosenberg¹,

Egan²,

Rodgers³

et al. 2013

Pediatrics

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KEY WORDS moyamoya, 6p trisomy, 12q deletion ABBREVIATIONS ACA-anterior cerebral artery FISH-fluorescence in situ hybridization HLA-human leukocyte antigen ICA-internal carotid artery MCA-middle cerebral artery OMIM-Online Mendelian Inheritance in Man SNP-single nucleotide polymorphism Dr Rosenberg guided conception and oversight of manuscript development and critically reviewed and revised manuscript for intellectual content; Dr Egan collected data, reviewed literature, and drafted the initial manuscript; Dr Rodgers collected and analyzed data; Dr Harter analyzed data and reviewed manuscript for intellectual content; Dr Burnside analyzed data, including statistical analysis, and critically reviewed manuscript for intellectual content; Dr Milla analyzed data; Dr Pappas analyzed data, guided conception and oversight of manuscript development, and critically reviewed manuscript for intellectual content; and all authors approved the final manuscript as submitted. Although pediatric ischemic stroke is an uncommon occurrence, moyamoya is responsible for 6% of cases. [1][2][3] Moyamoya is a cerebrovascular occlusive disorder characterized by bilateral progressive stenosis and occlusion of the distal intracranial internal arteries (ICA) and the proximal anterior and middle cerebral arteries with development of compensatory collateral vessels. The latter appear radiographically as a "puff of smoke" (moyamoya in Japanese). [4][5][6] In juvenile moyamoya, the most common initial presentation is extremity weakness or paralysis secondary to cerebral ischemia. 4,7 Moyamoya was first codified in Japan in 1969. 6 Patients are characterized as having moyamoya syndrome if the vascular findings are associated with an underlying condition, including acquired disorders such as previous cephalic radiation therapy or infection and genetic disorders, such as Down syndrome, neurofibromatosis, sickle cell anemia, and Alagille syndrome. 2,[8][9][10] Moyamoya disease, in contrast, generally refers to idiopathic or isolated, potentially familial, moyamoya.Juvenile moyamoya incidence varies by ethnicity (0.1/100 000 in Caucasian children and 1/100 000 in Japan and Korea) and gender (female: male 2:1) with an overall higher prevalence in families (6%-12%). 10 Genetic influences in moyamoya have been studied in twin, linkage, and identification analyses 11,12 in various ethnic groups, but no consistent finding has emerged. 10,12 This suggests both heterogeneity and epigenetic influences in moyamoya among different ethnic groups, with candidate mutations affecting human leukocyte antigen (HLA)-related genes (6p21), 13 neurofibromatosis-linked genes (17q25), 14 and metalloproteinase inhibitor genes involved in collagen vascular architecture (3p24). 15 Early-onset, or juvenile, and late-onset moyamoya likely have different etiologies, as suggested by HLA-related research in Japan. 16 Within moyamoya-related syndromes, several are also associated with developmental delay. Developmental delay and intellectual disability affects 1% to 3% of US chil...

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Genetics of Moyamoya disease

Cited by 42 publications

References 46 publications

Regional differences in incidence and patient characteristics of moyamoya disease: a systematic review

Regional differences in incidence and patient characteristics of moyamoya disease: a systematic review

Review of Past Research and Current Concepts on the Etiology of Moyamoya Disease

Complex Chromosome Rearrangement of 6p25.3->p23 and 12q24.32->qter in a Child With Moyamoya

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Genetics of Moyamoya disease

Cited by 42 publications

References 46 publications

Regional differences in incidence and patient characteristics of moyamoya disease: a systematic review

Regional differences in incidence and patient characteristics of moyamoya disease: a systematic review

Review of Past Research and Current Concepts on the Etiology of Moyamoya Disease

Complex Chromosome Rearrangement of 6p25.3-&gt;p23 and 12q24.32-&gt;qter in a Child With Moyamoya

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Complex Chromosome Rearrangement of 6p25.3->p23 and 12q24.32->qter in a Child With Moyamoya