title: De Novo Development of Moyamoya Disease in an Adult Female with a Genetic Variant of the RNF-213 Gene: Case Report.
abstract: BACKGROUND
  The de novo development of moyamoya disease (MMD) in adults is extremely rare, with only 2 cases being previously reported. Furthermore, the mechanisms underlying the progression of adult MMD have not been elucidated yet.
  
  
  METHODS
  A transient ischemic attack occurred in a 46-year-old woman, owing to progressive MMD. Magnetic resonance (MR) angiography performed 7 years before the diagnosis of MMD did not detect any steno-occlusive changes in the major intracranial vessels, including the internal carotid artery (ICA) and the middle cerebral artery (MCA). However, during the last 2 years, serial MR angiography revealed the gradual progression of left MCA stenosis and ultimately showed apparent stenosis of the bilateral terminal ICA to proximal MCA. Catheter angiography confirmed the definitive diagnosis of MMD. A genetic analysis of RING-finger protein (RNF)-213, an MMD susceptibility gene, revealed that not only the patient, but also her sister, brother, and daughter had the heterozygous variant of the RNF-213 gene. Because of hemodynamic compromise with ischemic symptoms, the patient underwent revascularization surgery on the affected hemisphere, without complications. She had no cerebrovascular event in the postoperative follow-up period of 8 months, and there was no evidence of the further progression of MMD.
  
  
  CONCLUSIONS
  We herein present the entire clinical course of the de novo development of MMD in a female adult. Newly developed MMD in an adult patient with a characteristic variant of the RNF-213 gene appears to be unique.
authors: Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan.
authors: Ryosuke
authors: R
authors: Tashiro
authors: Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan. Electronic address: fujimur@nsg.med.tohoku.ac.jp.
authors: Miki
authors: M
authors: Fujimura
authors: Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan.
authors: Kuniyasu
authors: K
authors: Niizuma
authors: Department of Neurosurgery, Kohnan Hospital, Sendai, Japan.
authors: Hidenori
authors: H
authors: Endo
authors: Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan.
authors: Hiroyuki
authors: H
authors: Sakata
authors: Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan.
authors: Mika
authors: M
authors: Sato-Maeda
authors: Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Japan.
authors: Teiji
authors: T
authors: Tominaga
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D002546:Ischemic Attack, Transient / Q000000981:diagnostic imaging / Q000209:etiology; D018810:Magnetic Resonance Angiography; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D009072:Moyamoya Disease / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: C557998:RNF213 protein, human; D044767:Ubiquitin-Protein Ligases; D000251:Adenosine Triphosphatases
keywords: Moyamoya disease; RNF-213 gene; adult; de novo; development