Familial moyamoya disease in a Greek family.
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.
Zafeiriou
Dimitrios I
DI
1st Paediatric Klinic, Aristotle University, Thessaloniki, Greece. jeff@med.auth.gr
Ikeda
Hidetoshi
H
Anastasiou
Anastasia
A
Vargiami
Efi
E
Vougiouklis
Nikos
N
Katzos
George
G
Gombakis
Nikos
N
Gioula
Georgia
G
Matsushima
Yoshiharu
Y
Kirkham
Fenella J
FJ
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