Open AccessiNPH—the mystery resolving
Author(s) -
Lein Ville,
Kuulasmaa Teemu,
Hiltunen Mikko
Publication year - 2021
Publication title -
embo molecular medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.923
H-Index - 107
eISSN - 1757-4684
pISSN - 1757-4676
DOI - 10.15252/emmm.202013720
Subject(s) - biomedicine , medicine , neurosurgery , library science , bioinformatics , surgery , biology , computer science
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.