Article
A role for mutations in AK9 and other genes affecting ependymal cells in idiopathic normal pressure hydrocephalus.
Proceedings of the National Academy of Sciences of the United States of America - 19 Dec 2023
Yang Hong Wei, Lee Semin, Berry Bethany C, Yang Dejun, Zheng Shaokuan, Carroll Rona S, Park Peter J, Johnson Mark D
Abstract excerpt
Idiopathic normal pressure hydrocephalus (iNPH) is an enigmatic neurological disorder that develops after age 60 and is characterized by gait difficulty, dementia, and incontinence. Recently, we reported that heterozygous CWH43 deletions may cause iNPH. Here, we identify mutations affecting nine additional genes (AK9, RXFP2, PRKD1, HAVCR1, OTOG, MYO7A, NOTCH1, SPG11, and MYH13) that are statistically enriched...
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