Familial moyamoya disease in a Greek family

Zafeiriou, Dimitrios I., Ikeda, Hidetoshi, Anastasiou, Anastasia, Vargiami, Efi, Vougiouklis, Nikos, Katzos, George, Gombakis, Nikos, Gioula, Georgia, Matsushima, Yoshiharu and Kirkham, Fenella J. (2003) Familial moyamoya disease in a Greek family. Brain and Development, 25 (4), 288-290. (doi:10.1016/s0387-7604(02)00224-3).

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.

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Contributors

Author: Fenella J. Kirkham

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