title: Familial moyamoya disease in a Greek family.
abstract: Moyamoya disease (M-M) is characterized by progressive obstruction of the supraclinoid portion of internal carotid arteries and the proximal middle, anterior and posterior cerebral arteries, associated with the formation of a characteristic net of collateral vessels in the basal ganglia region. Clinical manifestations in childhood include transient ischaemic attacks, seizures and multiple infarcts. Approximately 7% of M-M cases are familial. We report two affected Greek siblings with typical clinical and neuroradiological findings of M-M. Linkage analysis of the whole family was consistent with linkage to the region 3p24-26, as previously reported in other familial Japanese M-M cases.
authors.affiliation: 1st Paediatric Klinic, Aristotle University, Thessaloniki, Greece. jeff@med.auth.gr
authors.forename: Dimitrios I
authors.initials: DI
authors.lastname: Zafeiriou
authors.forename: Hidetoshi
authors.initials: H
authors.lastname: Ikeda
authors.forename: Anastasia
authors.initials: A
authors.lastname: Anastasiou
authors.forename: Efi
authors.initials: E
authors.lastname: Vargiami
authors.forename: Nikos
authors.initials: N
authors.lastname: Vougiouklis
authors.forename: George
authors.initials: G
authors.lastname: Katzos
authors.forename: Nikos
authors.initials: N
authors.lastname: Gombakis
authors.forename: Georgia
authors.initials: G
authors.lastname: Gioula
authors.forename: Yoshiharu
authors.initials: Y
authors.lastname: Matsushima
authors.forename: Fenella J
authors.initials: FJ
authors.lastname: Kirkham
mesh_terms: D000483:Alleles; D002533:Cerebral Angiography; D002648:Child; D008040:Genetic Linkage; D006115:Greece; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009072:Moyamoya Disease / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D035781:Siblings