@article {1574950,
	title = {Deletions in CWH43 cause idiopathic normal pressure hydrocephalus},
	journal = {EMBO Mol Med},
	year = {2021},
	month = {2021 Jan 18},
	pages = {e13249},
	abstract = {Idiopathic normal pressure hydrocephalus (iNPH) is a neurological disorder that occurs in about 1\% of individuals over age 60 and is characterized by enlarged cerebral ventricles, gait difficulty, incontinence, and cognitive decline. The cause and pathophysiology of iNPH are largely unknown. We performed whole exome sequencing of DNA obtained from 53 unrelated iNPH patients. Two recurrent heterozygous loss of function deletions in CWH43 were observed in 15\% of iNPH patients and were significantly enriched 6.6-fold and 2.7-fold, respectively, when compared to the general population. Cwh43 modifies the lipid anchor of glycosylphosphatidylinositol-anchored proteins. Mice heterozygous for CWH43 deletion appeared grossly normal but displayed hydrocephalus, gait and balance abnormalities, decreased numbers of ependymal cilia, and decreased localization of glycosylphosphatidylinositol-anchored proteins to the apical surfaces of choroid plexus and ependymal cells. Our findings provide novel mechanistic insights into the origins of iNPH and demonstrate that it represents a distinct disease entity.},
	issn = {1757-4684},
	doi = {10.15252/emmm.202013249},
	author = {Yang, Hong Wei and <b>Lee, Semin</b> and Yang, Dejun and Dai, Huijun and Zhang, Yan and Han, Lei and Zhao, Sijun and Zhang, Shuo and Ma, Yan and Johnson, Marciana F and Rattray, Anna K and Johnson, Tatyana A and Wang, George and Zheng, Shaokuan and Carroll, Rona S and <b>Park, Peter J</b> and Johnson, Mark D}
}
