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NEUROLOGY

Unlocking the genetic complexity of congenital hydrocephalus

Nature Medicine volume 26, pages 1682–1683 (2020)Cite this article

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Genome sequencing of patients with sporadic congenital hydrocephalus reveals mutations of large effect size indicative of a developmental origin for the disease.

CH can be classified as communicating — without obstruction of CSF circulation — or non-communicating — typically due to stenosis (blockage) of the cerebral aqueduct, which is a narrow channel through which CSF flows from the ventricular system to the spaces surrounding the brain. The decision of whether to undertake neurosurgical shunting of the CSF, designed to alleviate increased intracranial pressure from excessive CSF accumulation, can be a difficult one. When the decision to shunt is based on clinical presentation or brain imaging alone, the procedure may not result in reduced ventricular size or improved functional outcomes. Knowledge of the genetic underpinning of CH in a patient could enhance prognostic accuracy and substantially assist clinical decision making. Only a handful of genes have been associated with hydrocephalus in infancy2. Most of the cases of CH for which there is a genetic understanding display aqueductal stenosis, and the genes responsible include X-linked L1CAM and AP1S2, or a few genes such as MPDZ and CCDC88C that cause severe autosomal recessive conditions that are not yet well delineated.

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Fig. 1: The identification of genetic mutations that lead to CH.

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Authors and Affiliations

  1. Center for Neurogenetics, Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, NY, USA

    M. Elizabeth Ross

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  1. M. Elizabeth Ross
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Correspondence to M. Elizabeth Ross.

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Ross, M.E. Unlocking the genetic complexity of congenital hydrocephalus. Nat Med 26, 1682–1683 (2020). https://doi.org/10.1038/s41591-020-1120-0

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