Familial moyamoya disease in caucasians

Shetty-Alva, Neetha; Alva, Suraj

doi:10.1016/s0887-8994(00)00215-0

Cited by 23 publications

(15 citation statements)

References 15 publications

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“…50 Arterial dissections, moyamoya disease, and fibromuscular dysplasia have a familial component in 10% to 20% of cases. 58,59 Common variants on chromosome 9p21 adjacent to the tumor suppressor genes CDKN2A and CDKN2B, which were initially found to be associated with MI, 60 -62 have been found to be associated with ischemic stroke as well. 63 Common variants on 4q25 adjacent to the PITX2 gene involved in cardiac development were first shown to be associated with atrial fibrillation.…”

Section: Diagnostic Recommendationsmentioning

confidence: 99%

Guidelines for the Primary Prevention of Stroke

Goldstein¹,

Bushnell²,

Adams³

et al. 2011

Stroke

1,298

577

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Background and Purpose-This guideline provides an overview of the evidence on established and emerging risk factors for stroke to provide evidence-based recommendations for the reduction of risk of a first stroke. Methods-Writing group members were nominated by the committee chair on the basis of their previous work in relevant topic areas and were approved by the American Heart Association (AHA) Stroke Council Scientific Statement Oversight Committee and the AHA Manuscript Oversight Committee. The writing group used systematic literature reviews (covering the time since the last review was published in 2006 up to April 2009), reference to previously published guidelines, personal files, and expert opinion to summarize existing evidence, indicate gaps in current knowledge, and when appropriate, formulate recommendations using standard AHA criteria (Tables 1 and 2). All members of the writing group had the opportunity to comment on the recommendations and approved the final version of this document. The guideline underwent extensive peer review by the Stroke Council leadership and the AHA scientific statements oversight committees before consideration and approval by the AHA Science Advisory and Coordinating Committee. Results-Schemes for assessing a person's risk of a first stroke were evaluated. Risk factors or risk markers for a first stroke were classified according to potential for modification (nonmodifiable, modifiable, or potentially modifiable) and strength of evidence (well documented or less well documented). Nonmodifiable risk factors include age, sex, low birth weight, race/ethnicity, and genetic predisposition. Well-documented and modifiable risk factors include hypertension, exposure to cigarette smoke, diabetes, atrial fibrillation and certain other cardiac conditions, dyslipidemia, carotid artery stenosis, sickle cell disease, postmenopausal hormone therapy, poor diet, physical inactivity, and obesity and body fat

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Section: Diagnostic Recommendationsmentioning

confidence: 99%

Guidelines for the Primary Prevention of Stroke

Goldstein¹,

Bushnell²,

Adams³

et al. 2011

Stroke

1,298

577

View full text Add to dashboard Cite

show abstract

“…50 Arterial dissections, moyamoya syndrome, and fibromuscular dysplasia have a genetic or familial component in 10% to 20% of cases. 61,62 The DeCode genetics group (Iceland) has reported genetic linkage of phosphodiesterase 4D (chromosome 5q12) and 5-lipoxygenase activating protein (chromosome 13q12-13) to common forms of ischemic stroke. 63,64 In both cases, there appears to be an association between several specific genetic haplotypes and stroke, although no pathogenic mutations have been identified.…”

Section: Genetic Factorsmentioning

confidence: 99%

Primary Prevention of Ischemic Stroke

Goldstein¹,

Adams²,

Alberts

et al. 2006

Stroke

1,086

285

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Background and Purpose-This guideline provides an overview of the evidence on various established and potential stroke risk factors and provides recommendations for the reduction of stroke risk. Methods-Writing group members were nominated by the committee chair on the basis of each writer's previous work in relevant topic areas and were approved by the American Heart Association Stroke Council's Scientific Statement Oversight Committee. The writers used systematic literature reviews (covering the time period since the last review published in 2001 up to January 2005), reference to previously published guidelines, personal files, and expert opinion to summarize existing evidence, indicate gaps in current knowledge, and when appropriate, formulate recommendations based on standard American Heart Association criteria. All members of the writing group had numerous opportunities to comment in writing on the recommendations and approved the final version of this document. The guideline underwent extensive peer review before consideration and approval by the AHA Science Advisory and Coordinating Committee. Results-Schemes for assessing a person's risk of a first stroke were evaluated. Risk factors or risk markers for a first stroke were classified according to their potential for modification (nonmodifiable, modifiable, or potentially modifiable) and strength of evidence (well documented or less well documented). Nonmodifiable risk factors include age, sex, low birth weight, race/ethnicity, and genetic factors. Well-documented and modifiable risk factors include hypertension, exposure to cigarette smoke, diabetes, atrial fibrillation and certain other cardiac conditions, dyslipidemia, carotid artery stenosis, sickle cell disease, postmenopausal hormone therapy, poor diet, physical inactivity, and obesity and body fat distribution. Less well-documented or potentially modifiable risk factors include the metabolic syndrome, alcohol abuse, drug abuse, oral contraceptive use, sleep-disordered breathing, migraine headache, hyperhomocysteinemia, elevated lipoprotein(a), elevated lipoprotein-associated phospholipase, hypercoagulability, inflammation, and infection. Data on the use of aspirin for primary stroke prevention are reviewed.

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“…Table 1 resumes the clinical and HLA characterization of the previously reported cases of Caucasian familial moyamoya [5][6][7][8][9][10]. Screening was only carried out in one of these reported cases [6].…”

Section: Discussionmentioning

confidence: 99%

Caucasian Familial Moyamoya Syndrome With Rare Multisystemic Malformations

Nzwalo

Santos

Gradil

et al. 2013

Pediatric Neurology

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Moyamoya disease is an idiopathic progressive steno-occlusive disorder of the intracranial arteries located at the base of the brain. It is associated with the development of compensatory extensive network of fine collaterals. Moyamoya disease is considered syndromic when certain genetic or acquired disorders such as polycystic kidney disease, neurofibromatosis, or meningitis are also present. Although the genetic contribution in moyamoya is indisputable, its cause and pathogenesis remain under discussion. Herein, we report a rare occurrence of moyamoya syndrome in two European Caucasian siblings in association with unusual multisystemic malformations (polycystic kidney disease in one, and intestinal duplication cyst in the other). The karyotype was normal. No mutation in the RFN213 gene was found, and none of the HLA types linked to moyamoya disease or described in similar familial cases were identified. By describing these multisystemic associations, polycystic kidney disease for the second time, and intestinal malformation for the first time in the literature, our report expands the phenotypic variability of moyamoya syndrome. The coexistence of disparate malformations among close relatives suggests an underlying common genetic background predisposing to structural or physiological abnormalities in different tissues and organs.

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Familial moyamoya disease in caucasians

Cited by 23 publications

References 15 publications

Guidelines for the Primary Prevention of Stroke

Guidelines for the Primary Prevention of Stroke

Primary Prevention of Ischemic Stroke

Caucasian Familial Moyamoya Syndrome With Rare Multisystemic Malformations

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