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Moyamoya disease in Italian monozygotic twins
V Andreone1, A Ciarmiello, C Fusco
1Department of Neurology, Ospedale Cardarelli, Naples, Italy.
Neurology
|October 16, 1999
Abstract:
We report white monozygotic twins with moyamoya disease (MMD) (adult ischemic type). Both had cerebral angiography, MRI, magnetic resonance angiography, SPECT, EEG, human leukocyte antigen (HLA) typing, evaluation of thrombophilia, and immunologic and karyotype analysis. The clinical features and HLA phenotypes described in Asian monozygotic twins with MMD were not found in our patients. However, genetic analysis revealed a homozygous state for C-->T (Ala-->Val substitution) in position 677 of the methylenetetrahydrofolate reductase-encoding gene.