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Treatment of intracranial arterial disease
Published in Debabrata Mukherjee, Eric R. Bates, Marco Roffi, Richard A. Lange, David J. Moliterno, Nadia M. Whitehead, Cardiovascular Catheterization and Intervention, 2017
Alberto Maud, Gustavo J. Rodriguez
Lifestyle may play a role in the racial-ethnic differences: the pattern of ischemic stroke is changing in Asian patients. With the Westernized lifestyle, the incidence of extracranial cervical disease is rising. Last, it is also possible that patients with adult-onset MMD are misclassified as having ICAD, which may partly explain the high prevalence of intracranial atherosclerosis in Asians. Ring finger 213 (RNF213) was recently identified as the strongest susceptibility gene for MMD in East Asian people by a genome-wide linkage analysis and an exome analysis. The number of patients with MMD was estimated to be more than 53,800 in East Asian populations.15 The prevalence of MMD has recently increased with more careful consideration of the disease and better diagnostic techniques; many patients may have been misclassified as having ICAD.16
Moyamoya syndrome in a male pseudohermaphrodite patient with congenital adrenal hyperplasia – a rare association. Case report and review of literature
Published in British Journal of Neurosurgery, 2023
Remesh Chirayil Vasudevan, Reshma Vachali Madayi, Rohit Ravindranath Nambiar
Moyamoya occurs twice as often in females as in males.8,9 Though genetics of moyamoya disease is not well understood, recent data have shown a link between mutations of RNF213 gene and pathogenesis of moyamoya syndrome, particularly among Asians. The RNF213 gene is located on chromosome 17 (17q25.3), and the RNF213 protein coded by this gene is involved in normal development of blood vessels and hence, mutations in the RNF213 gene may contribute to narrowing of blood vessels and their proliferation, which is characteristic of moyamoya. At least 24 such mutations have been associated with moyamoya disease, the most common of which involves base-pair substitution resulting in replacement of arginine by lysine at protein position 4810. Mutations of TIMP-2, ACTA2 and mutations on chromosome 3p, 6, 8 (8q23) and 17(near NF1 gene) have also been implicated in the origin and development of moyamoya. Interestingly, the gene coding for 11- beta-hydroxylase (CYP11B1) the deficiency of which causes CAH, is also located on chromosome 8 (8q24).
Genetic analysis of ring finger protein 213 (RNF213) c.14576G>A polymorphism in patients with vertebral artery dissection: a comparative study with moyamoya disease
Published in Neurological Research, 2019
Ryosuke Tashiro, Miki Fujimura, Hiroyuki Sakata, Hidenori Endo, Yasutake Tomata, Mika Sato-Maeda, Kuniyasu Niizuma, Teiji Tominaga
Moyamoya disease (MMD) is a chronic–occlusive cerebrovascular disease of unknown etiology characterized by steno-occlusive changes in the terminal portion of the internal carotid artery and abnormal vascular networks at the base of the brain [9,10]. Similar to VAD, MMD is known to be relatively common among the East Asian population [11]. Histological characteristics of MMD include medial layer thinness and the waving of internal elastic lamina of the intracranial arteries at the anterior circulation, reflecting the intrinsic fragility of the intracranial vascular wall structures [10,12]. Based on the common basic pathology of intracranial vascular wall fragility in MMD/VAD, we hypothesized that both intracranial VAD and MMD have a similar etiologic background. Considering the genetic background, Ring finger protein 213 (RNF213) was identified as a disease susceptibility gene for MMD [13–15]. Although the functional role of the RNF213 gene in the pathophysiology of MMD remains unclear, variants of the RNF213 gene are observed not only in MMD patients but also in patients with atherosclerosis of anterior circulation [16–18]. This suggests that RNF213 plays some roles in the development of extensive cerebrovascular diseases. Based on these observations, we investigated the RNF213 c.14576G>A polymorphism, which is characteristic to East Asian MMD patients, in patients with intracranial VAD, in comparison with patients with definitive MMD and 48 healthy controls.