title: Genetics of Moyamoya disease.
abstract: Moyamoya disease (MMD) is a disease pattern consisting of bilateral stenosis of the intracranial internal carotid arteries (ICA) accompanied by a network of abnormal collateral vessels that bypass the stenosis. Once symptomatic, insufficient cerebral blood flow or rupture of the fragile collaterals may cause stroke or hemorrhage, resulting in severe neurological dysfunction or death. The etiology of MMD is still unknown, although few associations with other diseases and environmental factors have been described. Strong regional differences in epidemiological data, as well as known familial cases, turned the focus to genetics for the insight into the disease's pathogenesis. Thus far, several reports have suggested specific genetic loci and individual genes as predisposing to MMD, but none have demonstrated reproducible results in independent cohorts. Small sample sizes, as well as a likely multifactorial origin, seem to be the most challenging tasks in identifying the disease-causing mechanisms. Once identified, susceptibility genes may allow preventive screening and a possible development of novel therapeutic options.
authors.affiliation: Department of Neurosurgery, University of Tübingen, Tübingen, Germany.
authors.forename: Constantin
authors.initials: C
authors.lastname: Roder
authors.forename: Nikhil R
authors.initials: NR
authors.lastname: Nayak
authors.forename: Nadia
authors.initials: N
authors.lastname: Khan
authors.forename: Marcos
authors.initials: M
authors.lastname: Tatagiba
authors.forename: Ituro
authors.initials: I
authors.lastname: Inoue
authors.forename: Boris
authors.initials: B
authors.lastname: Krischek
mesh_terms: D000328:Adult; D002343:Carotid Artery, Internal / Q000473:pathology / Q000503:physiopathology; D002561:Cerebrovascular Disorders / Q000453:epidemiology / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D009072:Moyamoya Disease / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology