Abstract

Hydrocephalus is a neurological condition due to the aberrant circulation and/or obstruction of cerebrospinal fluid (CSF) flow with consequent enlargement of cerebral ventricular cavities. However, it is noticed that a lot of patients may still go through symptomatic progression despite standard shunting procedures, suggesting that hydrocephalus is far more complicated than a simple CSF circulative/obstructive disorder. Growing evidence indicates that genetic factors play a fundamental role in the pathogenesis of some hydrocephalus. Although the genetic research of hydrocephalus in humans is limited, many genetic loci of hydrocephalus have been defined in animal models. In general, the molecular abnormalities involved in the pathogenesis of hydrocephalus include brain development and ependymal cell dysfunction, apoptosis, inflammation, free radical generation, blood flow, and cerebral metabolism. Moreover, recent studies have indicated that the molecular abnormalities relevant to aberrant cerebral glymphatic drainage turn into an attractive subject in the CSF circulation disorder. Furthermore, the prevalent risk factors could facilitate the development of hydrocephalus. In this review, we elicited some possible fundamental molecular mechanisms and facilitating risk factors involved in the pathogenesis of hydrocephalus, and aimed to widen the diagnosis and therapeutic strategies for hydrocephalus management. Such knowledge could be used to improve patient care in different ways, such as early precise diagnosis and effective therapeutic regimens.

Highlights

  • Hydrocephalus is defined as active distension of brain’s ventricular system, resulting from inadequate passage of cerebrospinal fluid from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation (Rekate, 2008; Kousi and Katsanis, 2016)

  • It is worth noting that sleep and glymphatic system have become critical elements in the pathogenesis of idiopathic normal pressure hydrocephalus (iNPH), and they may be possibly manipulated through the changes of cardiac-induced arterial pulsation and intracranial pressure pulsatility with the cardiac-gated device used in our previous studies (Iliff et al, 2013; Luciano et al, 2017)

  • It is essential to recognize that the current studies of genetic foundation and predisposing risk factors are promising approaches toward addressing the usual concern about whether an observed phenomenon is a consequence or a cause of hydrocephalus

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Summary

Frontiers in Genetics

Hydrocephalus is a neurological condition due to the aberrant circulation and/or obstruction of cerebrospinal fluid (CSF) flow with consequent enlargement of cerebral ventricular cavities. Recent studies have indicated that the molecular abnormalities relevant to aberrant cerebral glymphatic drainage turn into an attractive subject in the CSF circulation disorder. We elicited some possible fundamental molecular mechanisms and facilitating risk factors involved in the pathogenesis of hydrocephalus, and aimed to widen the diagnosis and therapeutic strategies for hydrocephalus management. Such knowledge could be used to improve patient care in different ways, such as early precise diagnosis and effective therapeutic regimens

INTRODUCTION
Choroid plexus papilloma carcinoma
Choroid plexus coagulation
ANIMAL GENETIC STUDIES OF HYDROCEPHALUS
Rat Hydrocephalus Model
Genetic locus
Aqueductal stenosis without intellectual disability
Mouse Hydrocephalus Model
Congenital Hydrocephalus Studies
Glymphatic System and Hydrocephalus
Findings
CONCLUSION AND FUTURE PERSPECTIVES
Full Text
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