Rapid progression of unilateral moyamoya disease in a patient with a family history and an RNF213 risk variant

Cerebrovascular Diseases

Volumn 36, Issue 2, 2013, Pages 155-157

  Mineharu, Yohei ^a,b   Takagi, Yasushi ^c   Takahashi, Jun C ^c   Hashikata, Hirokuni ^d   Liu, Wanyang ^c   Hitomi, Toshiaki ^c   Kobayashi, Hatasu ^c   Koizumi, Akio ^c   Miyamoto, Susumu ^c  

^a INSTITUTE OF BIOMEDICAL RESEARCH AND INNOVATION   (Japan)

^b KOBE CITY MEDICAL CENTER GENERAL HOSPITAL   (Japan)

^c KYOTO UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^d Kitano Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ALLELE; CASE REPORT; CONSERVATIVE TREATMENT; CONVENTIONAL ANGIOGRAPHY; DIGITAL SUBTRACTION ANGIOGRAPHY; DISEASE COURSE; FAMILY HISTORY; FEMALE; GENE; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; MAGNETIC RESONANCE ANGIOGRAPHY; MIDDLE CEREBRAL ARTERY OCCLUSION; MOYAMOYA DISEASE; NOTE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RNF213 GENE; FOLLOW UP;

ADULT; DISEASE PROGRESSION; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MOYAMOYA DISEASE; MUTATION; PEDIGREE; UBIQUITIN-PROTEIN LIGASES;

EID: 84885581353     PISSN: 10159770     EISSN: 14219786     Source Type: Journal    
DOI: 10.1159/000352065     Document Type: Note

References (10)

1. Guidelines for diagnosis and treatment of moyamoya disease (Spontaneous Occlusion of the Circle of Willis). Neurol Med Chir (Tokyo) 2012; 52: 245-266
2. Czabanka M, Peña-Tapia P, Schubert GA, Heppner FL, Martus P, Horn P, et al: Proposal for a new grading of Moyamoya disease in adult patients. Cerebrovasc Dis 2011; 32: 41-50
3. Mineharu Y, Liu W, Inoue K, Matsuura N, Inoue S, Takenaka K, et al: Autosomal dominant moyamoya disease maps to chromosome 17q25.3. Neurology 2008; 70: 2357-2363
4. Mineharu Y, Takenaka K, Yamakawa H, Inoue K, Ikeda H, Kikuta K-I, et al: Inheritance pattern of familial moyamoya disease: autosomal dominant mode and genomic imprinting. J Neurol 2006; 77: 1025-1029
5. Kamada F, Aoki Y, Narisawa A, Abe Y, Ko matsuzaki S, Kikuchi A, et al: A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet 2010; 56: 1-7
6. Liu W, Morito D, Takashima S, Mineharu Y, Kobayashi H, Hitomi T, et al: Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS One 2011; 6:e22542
7. Miyatake S, Miyake N, Touho H: Homozygous c.14576GA variant of RNF213 predicts early-onset and severe form of moyamoya disease. Neurology 2012; 78: 803-810
8. Fukaya R, Yoshida K, Akiyama T, Kawase T: De novo development of moyamoya disease in an adult female. Case report. J Neurosurg 2009; 111: 943-946
9. Shimoda Y, Fujimura M, Inoue T, Shimizu H, Tominaga T: Temporal profile of de novo development of moyamoya vasculopathy in an adult. Neurol Med Chir (Tokyo) 2012; 52: 339-342
10. Amlie-Lefond C, Bernard TJ, Sébire G, Friedman NR, Heyer GL, Lerner NB, et al: Predictors of cerebral arteriopathy in children with arterial ischemic stroke: results of the International Pediatric Stroke Study. Circulation 2009; 119: 1417-1423