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Publication : Deletions in CWH43 cause idiopathic normal pressure hydrocephalus.

First Author  Yang HW Year  2021
Journal  EMBO Mol Med Volume  13
Issue  3 Pages  e13249
PubMed ID  33459505 Mgi Jnum  J:310176
Mgi Id  MGI:6761212 Doi  10.15252/emmm.202013249
Citation  Yang HW, et al. (2021) Deletions in CWH43 cause idiopathic normal pressure hydrocephalus. EMBO Mol Med 13(3):e13249
abstractText  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.
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