Low prevalence of CWH43 variants among Finnish and Norwegian idiopathic normal pressure hydrocephalus patients: a cohort-based observational study
We studied the iNPH-associated CWH43 LOF variants for the first time on a population-scale. Contrary to previously reported findings in smaller cohorts, our study revealed a low prevalence of these variants in the population-scale Finnish iNPH cohort, with no effect on disease risk of iNPH. The prevalence in the Norwegian iNPH cohort was also low compared to previous studies.
Authors
- Cecilia Avellan
- Jarno Satopää (ORCID: https://orcid.org/0000-0002-2674-0301)
- Jean‐Charles Lambert (ORCID: https://orcid.org/0000-0003-0829-7817)
- Mitja Kurki (ORCID: https://orcid.org/0000-0002-6010-8617)
- Antti Ronkainen (ORCID: https://orcid.org/0000-0002-4173-1016)
- Janek Frantzén (ORCID: https://orcid.org/0000-0002-6847-5374)
- Henna Martiskainen (ORCID: https://orcid.org/0000-0003-2796-1859)
- Per Kristian Eide (ORCID: https://orcid.org/0000-0001-6881-9280)
- Anne M. Portaankorva (ORCID: https://orcid.org/0000-0002-4969-5101)
- Kimmo Lönnrot (ORCID: https://orcid.org/0000-0003-4361-1007)
- Ville Leinonen (ORCID: https://orcid.org/0000-0002-4282-4687)
- Valtteri Julkunen (ORCID: https://orcid.org/0000-0002-8727-8536)
- Mikael von und zu Fraunberg (ORCID: https://orcid.org/0000-0002-8457-4639)
- Anna Kotkansalo (ORCID: https://orcid.org/0000-0002-3182-7786)
- Anssi Lipponen (ORCID: https://orcid.org/0000-0002-4403-9084)
- Markus Perola (ORCID: https://orcid.org/0000-0003-4842-1667)
- Minna Oinas (ORCID: https://orcid.org/0000-0002-6150-091X)
- Joose Raivo
- Antti Junkkari (ORCID: https://orcid.org/0000-0001-8715-1749)
- Céline Bellenguez (ORCID: https://orcid.org/0000-0002-1240-7874)
- Joel Räsänen (ORCID: https://orcid.org/0009-0008-8244-2270)
- Sami Heikkinen (ORCID: https://orcid.org/0000-0002-6083-2402)
- Anne M. Koivisto (ORCID: https://orcid.org/0000-0002-0388-0379)
- Hilkka Soininen (ORCID: https://orcid.org/0000-0002-2785-9937)
- Jaakko Rinne (ORCID: https://orcid.org/0000-0001-9255-733X)
- Mikko Kauppinen
- Seppo Helisalmi
- Mikko Hiltunen (ORCID: https://orcid.org/0000-0003-3566-4096)
- Aarno V. Palotie (ORCID: https://orcid.org/0000-0002-2527-5874)
- Ville E. Korhonen (ORCID: https://orcid.org/0000-0003-4619-777X)
- Juha E. Jääskeläinen
- Benjamin Grenier‐Boley (ORCID: https://orcid.org/0009-0004-3412-3997)
Institutions
- Broad Institute (US)
- Oslo University Hospital (NO)
- University of Helsinki (FI)
- Inserm (FR)
- University of Turku (FI)
- University of Eastern Finland (FI)
- University of Oslo (NO)
- Université de Lille (FR)
- Oulu University Hospital (FI)
- Helsinki University Hospital (FI)
- Institut Pasteur de Lille (FR)
- Turku University Hospital (FI)
- Centre Hospitalier Universitaire de Lille (FR)
- Finnish Institute for Health and Welfare (FI)
- Massachusetts General Hospital (US)
- Kuopio University Hospital (FI)
- Tampere University Hospital (FI)
- Tampere University (FI)
- Institute for Molecular Medicine Finland (FI)
- University of Oulu (FI)
Publication Details
- Journal
- Fluids and Barriers of the CNS
- Published
- 2025-02-13
- DOI
- https://doi.org/10.1186/s12987-025-00625-0
- Citations
- 2
- Primary Topic
- Cerebrospinal fluid and hydrocephalus
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Pfizer
- AstraZeneca
- Sanofi
- Massachusetts General Hospital
- Biogen
- Celgene
- Itä-Suomen Yliopisto
- Helsingin Yliopisto
- Suomen Lääketieteen Säätiö
- Broad Institute
- EU Joint Programme – Neurodegenerative Disease Research
- Maze Therapeutics
- Institut National de la Santé et de la Recherche Médicale
- Suomen Kulttuurirahasto
- Kuopion Yliopistollinen Sairaala
- Universitetet i Oslo
- Turun Yliopisto
- Oulun Yliopisto
- Tays
- Business Finland
- Genentech
- Stanley Center for Psychiatric Research, Broad Institute
- Helsinki Institute of Life Science, Helsingin Yliopisto
- Pohjois-Savon Rahasto
- Medisinske fakultet, Universitetet i Oslo