Low prevalence of CWH43 variants among Finnish and Norwegian idiopathic normal pressure hydrocephalus patients: a cohort-based observational study

Low prevalence of CWH43 variants among Finnish and Norwegian idiopathic normal pressure hydrocephalus patients: a cohort-based observational study

Abstract Background Heterozygous CWH43 loss-of-function (LOF) variants have been identified as iNPH risk factors, with 10–15% of iNPH patients carrying these variants in cohorts from the US. Mouse model harboring CWH43 LOF variants display a hydrocephalic phenotype with ventricular cilia alterations...

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Main Authors: Joel Räsänen, Seppo Helisalmi, Sami Heikkinen, Joose Raivo, Ville E. Korhonen, Henna Martiskainen, Antti Junkkari, Benjamin Grenier-Boley, Céline Bellenguez, Minna Oinas, Cecilia Avellan, Janek Frantzen, Anna Kotkansalo, Jaakko Rinne, Antti Ronkainen, Mikko Kauppinen, Mikael von und zu Fraunberg, Kimmo Lönnrot, Jarno Satopää, Markus Perola, Anne M. Koivisto, Valtteri Julkunen, Anne M. Portaankorva, Arto Mannermaa, Hilkka Soininen, Juha E. Jääskeläinen, Jean-Charles Lambert, Per K. Eide, FinnGen, Aarno Palotie, Mitja I. Kurki, Mikko Hiltunen, Ville Leinonen, Anssi Lipponen
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Fluids and Barriers of the CNS
Subjects:
Normal pressure hydrocephalus
CWH43
Genetics
Finnish
Norwegian
FinnGen
Online Access:https://doi.org/10.1186/s12987-025-00625-0
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