No abstract

Background: The pathogenesis of moyamoya disease (MMD) is still unknown. The detection of inflammatory molecules such as cytokines, chemokines and growth factors in MMD patients' biological fluids supports the hypothesis that an abnormal angiogenesis is implicated in MMD pathogenesis. However, it is unclear whether these anomalies are the consequences of the disease or rather causal factors as well as these mechanisms remain insufficient to explain the pathophysiology of MMD. The presence of a family history in about 9-15% of Asian patients, the highly variable incidence rate between different ethnic and sex groups and the age of onset support the role of genetic factors in MMD pathogenesis. However, although some genetic loci have been associated with MMD, few of them have been replicated in independent series. Recently, RNF213 gene was shown to be strongly associated with MMD occurrence with a founder effect in East Asian patients. However, the mechanisms leading from RNF213 mutations to MMD clinical features are still unknown. Summary: The research on pathogenic mechanism of MMD is in its infancy. MMD is probably a complex and heterogeneous disorder, including different phenotypes and genotypes, in which more than a single factor is implicated. Key Message: Since the diagnosis of MMD is rapidly increasing worldwide, the development of more efficient stratifying risk systems, including both clinical but also biological drivers became imperative to improve our ability of predict prognosis and to develop mechanism-tailored interventions.

The final clinical outcome in PFbAVMs relates directly with the presence of associated aneurysms, number of treatments needed to obliterate the AVM and mRS at presentation. Despite the fact that patients tend to improve after brain AVM haemorrhage, the relationship of MRS at presentation and final outcome suggests that an expedited, more definitive treatment is probably a better choice, especially in patients with good grades after the initial bleeding.

Appropriate selection of patients with occipital AVMs for one or a combination of treatment modalities yields a significant decrease in nonhemorrhagic headache without significant visual worsening. The multidisciplinary care of occipital AVMs can aim for an apparent decrease in hemorrhage risk.