title: Unilateral moyamoya phenomenon with a string-of-beads appearance in an elderly patient with the c.14576G>A heterozygous variant of RNF213.
abstract: We herein report a case of ischemic stroke in a 69-year-old man with unilateral moyamoya vessels originating from the proximal portion of the left middle cerebral artery. In addition, digital-subtraction angiography demonstrated a string-of-beads-like appearance in the cavernous portion of the left internal carotid artery. A genetic analysis revealed a heterozygous c.14576G>A variant in ring finger protein 213. The patient's younger brother had a history of hemorrhagic stroke and had been diagnosed with moyamoya disease. We finally considered that the unilateral moyamoya vessel and string-of-beads appearance observed in the current case were not simply caused by atherosclerosis, but rather represented symptoms within the moyamoya spectrum.
authors: Department of Stroke Medicine, Kawasaki Medical School, Japan.
authors: Junya
authors: J
authors: Aoki
authors: Kensaku
authors: K
authors: Shibazaki
authors: Masaki
authors: M
authors: Ito
authors: Naoki
authors: N
authors: Saji
authors: Junichi
authors: J
authors: Uemura
authors: Kiyohiro
authors: K
authors: Houkin
authors: Kazumi
authors: K
authors: Kimura
mesh_terms: D000251:Adenosine Triphosphatases; D000368:Aged; D015901:Angiography, Digital Subtraction; D002343:Carotid Artery, Internal / Q000000981:diagnostic imaging; D014644:Genetic Variation; D006579:Heterozygote; D006801:Humans; D008297:Male; D020768:Middle Cerebral Artery / Q000000981:diagnostic imaging; D009072:Moyamoya Disease / Q000235:genetics / Q000473:pathology*; D035781:Siblings; D020521:Stroke / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
chemical_list: C557998:RNF213 protein, human; D044767:Ubiquitin-Protein Ligases; D000251:Adenosine Triphosphatases