2020 Highlights

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November 2020

Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus

Congenital hydrocephalus (CH), characterized by enlarged brain ventricles, is considered a disease of excessive cerebrospinal fluid (CSF) accumulation and thereby treated with neurosurgical CSF diversion with high morbidity and failure rates. The poor neurodevelopmental outcomes and persistence of ventriculomegaly in some post-surgical patients...


September 2020

Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia

Trigeminal neuralgia (TN) is a common, debilitating neuropathic face pain syndrome often resistant to therapy. The familial clustering of TN cases suggests that genetic factors play a role in disease pathogenesis. However, no unbiased, large-scale genomic study of TN has been performed to date. Analysis of 290 whole exome-sequenced TN probands...

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May 2020

Inflammation in acquired hydrocephalus: pathogenic mechanisms and therapeutic targets

Hydrocephalus is the most common neurosurgical disorder worldwide and is characterized by enlargement of the cerebrospinal fluid (CSF)-filled brain ventricles resulting from failed CSF homeostasis. Since the 1840s, physicians have observed inflammation in the brain and the CSF spaces in both posthaemorrhagic hydrocephalus (PHH)...


Koo AB, Elsamadicy AA, Kundishora AJ, et al. Geographic Variation in Outcomes and Costs After Spinal Fusion for Adolescent Idiopathic Scoliosis [published online ahead of print, 2020 Jan 7]. World Neurosurg. 2020;S1878-8750(19)33207-3. doi:10.1016/j.wneu.2019.12.175
Kundishora AJ, Reeves BC, Nelson-Williams C, et al. Novel EWSR1-VGLL1 fusion in a pediatric neuroepithelial neoplasm [published online ahead of print, 2020 Jan 11]. Clin Genet. 2020;10.1111/cge.13703. doi:10.1111/cge.13703
Zhang J, Bhuiyan MIH, Zhang T, et al. Modulation of brain cation-Cl- cotransport via the SPAK kinase inhibitor ZT-1a. Nat Commun. 2020;11(1):78. Published 2020 Jan 7. doi:10.1038/s41467-019-13851-6