Neurology
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Neurology 1999;53:1332
© 1999 American Academy of Neurology
Brief Communications

Moyamoya disease in Italian monozygotic twins

V. Andreone, MD, A. Ciarmiello, MD, C. Fusco, MD, G. Ambrosanio, MD, C. Florio, MD and I. Linfante, MD

From the Department of Neurology (Dr. Andreone), Ospedale Cardarelli; Department of Nuclear Medicine (Dr. Ciarmiello), Istituto Nazionale per lo Studio e la Cura dei Tumori, and Centro per lo studio della Medicina Nucleare CNR, Università degli Studi "Federico II"; Blood Center (Dr. Fusco), Ospedale Cardarelli; and Department of Neuroradiology (Dr. Ambrosanio), Ospedale Cardarelli, Naples, Italy; and Department of Neurology (Dr. Linfante), Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA.

Address correspondence and reprint requests to Dr. Vincenzo Andreone, Department of Neurology, Ospedale Cardarelli, Piazza Immacolata 12, Napoli, Italy.

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.

Key words: Moyamoya—Stroke—Human leukocyte antigen—Methylenetetrahydrofolate reductase—Genetics—Monozygotic twins.






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