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Comment
. 2021 Mar 5;13(3):e13720.
doi: 10.15252/emmm.202013720. Epub 2021 Feb 8.

iNPH-the mystery resolving

Ville Leinonen  1   2 , Teemu Kuulasmaa  3 , Mikko Hiltunen  3
Affiliations
Comment

iNPH-the mystery resolving

Ville Leinonen et al. EMBO Mol Med. .

Abstract

Idiopathic normal pressure hydrocephalus (iNPH) is characterized clinically by degradation of gait, cognition, and urinary continence. INPH is progressive (Andrén et al, 2014), still probably underdiagnosed (Williams et al, 2019) but potentially treatable by CSF diversion (Kazui et al, 2015). Familial aggregation is a strong indicator of genetic regulation in the disease process iNPH (Fig 1). Enlargement of brain ventricles is associated with failed cerebrospinal (CSF) homeostasis by so far mostly unknown mechanisms. A mutation of the cilia gene CFAP43 in iNPH family, confirmed by a knocked-out mouse model (Morimoto et al, 2019), allelic variation of NME8 (Huovinen et al, 2017), a segmental copy number loss in SFMBT1 in selected iNPH patients (Sato et al, 2016), and current results by Yang et al (2021) indicate that cilia dysfunction is one of the key mechanisms behind iNPH.

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Figures

Figure 1
Figure 1
Hypothetical disease progress of iNPH
See this image and copyright information in PMC

Comment on

  • Deletions in CWH43 cause idiopathic normal pressure hydrocephalus.
    Yang HW, Lee S, Yang D, Dai H, Zhang Y, Han L, Zhao S, Zhang S, Ma Y, Johnson MF, Rattray AK, Johnson TA, Wang G, Zheng S, Carroll RS, Park PJ, Johnson MD. Yang HW, et al. EMBO Mol Med. 2021 Mar 5;13(3):e13249. doi: 10.15252/emmm.202013249. Epub 2021 Jan 18. EMBO Mol Med. 2021. PMID: 33459505 Free PMC article.

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