Abstract
AbstractHydrocephalus (HC) is a heterogenous disease characterized by alterations in cerebrospinal fluid (CSF) dynamics that may cause increased intracranial pressure. HC is a component of a wide array of genetic syndromes as well as a secondary consequence of brain injury (intraventricular hemorrhage (IVH), infection, etc.), highlighting the phenotypic heterogeneity of the disease. Surgical treatments include ventricular shunting and endoscopic third ventriculostomy with or without choroid plexus cauterization, both of which are prone to failure, and no effective pharmacologic treatments for HC have been developed. Thus, there is an urgent need to understand the genetic architecture and molecular pathogenesis of HC. Without this knowledge, the development of preventive, diagnostic, and therapeutic measures is impeded. However, the genetics of HC is extraordinarily complex, based on studies of varying size, scope, and rigor. This review serves to provide a comprehensive overview of genes, pathways, mechanisms, and global impact of genetics contributing to all etiologies of HC in humans.
Publisher
Cold Spring Harbor Laboratory
Reference417 articles.
1. From congenital to idiopathic adult hydrocephalus: a historical research
2. Cerebrospinal fluid circulation: What do we know and how do we know it?
3. Review of Cerebrospinal Fluid Physiology and Dynamics: A Call for Medical Education Reform
4. M.C. Dewan , A. Rattani , R. Mekary , L.J. Glancz , I. Yunusa , R.E. Baticulon , G. Fieggen , J.C. Wellons , K.B. Park , and B.C. Warf , Global hydrocephalus epidemiology and incidence: systematic review and meta-analysis. J Neurosurg (2018) 1–15.
5. Long-term mortality rates in pediatric hydrocephalus-a retrospective single-center study;Childs Nerv Syst,2017