Rapid Progression of Unilateral Moyamoya Disease in a Patient with a Family History and an RNF213 Risk Variant

vealed two haplotypes carrying p.R4810K: allele A 2 , which is common among patients with MMD, and allele A 1 , which is rare among patients with MMD [6] . The patient inherited an A 1 allele for p.R4810K ( fig. 1 d). On the other hand, her elder and younger sisters inherited an A 2 allele from their mother for p.R4810K, and no arterial stenosis was identified in either the initial or annual follow-up MRI examinations. Ethical approval for this study was given by the Institutional Review Board and Ethics Committee of the Kyoto University School of Medicine, Kyoto University, Japan.

[1]  Takashi Inoue,et al.  Temporal profile of de novo development of moyamoya vasculopathy in an adult: case report. , 2012, Neurologia medico-chirurgica.

[2]  Y. Kuroiwa,et al.  Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease , 2012, Neurology.

[3]  A. Fujiyama,et al.  Identification of RNF213 as a Susceptibility Gene for Moyamoya Disease and Its Possible Role in Vascular Development , 2011, PloS one.

[4]  F. Heppner,et al.  Proposal for a New Grading of Moyamoya Disease in Adult Patients , 2011, Cerebrovascular Diseases.

[5]  T. Kawase,et al.  De novo development of moyamoya disease in an adult female. Case report. , 2009, Journal of neurosurgery.

[6]  N. B. Lerner,et al.  Predictors of Cerebral Arteriopathy in Children With Arterial Ischemic Stroke: Results of the International Pediatric Stroke Study , 2009, Circulation.

[7]  K. Nozaki,et al.  Autosomal dominant moyamoya disease maps to chromosome 17q25.3 , 2008, Neurology.

[8]  K. Nozaki,et al.  Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting , 2006, Journal of Neurology, Neurosurgery & Psychiatry.

[9]  A. Yamamoto,et al.  Guidelines for diagnosis and treatment of moyamoya disease (spontaneous occlusion of the circle of Willis). , 2012, Neurologia medico-chirurgica.

[10]  A. Hata,et al.  A genome-wide association study identifies RNF213 as the first Moyamoya disease gene , 2011, Journal of Human Genetics.