Monoallelic TYROBP deletion is a novel risk factor for Alzheimer’s disease

Monoallelic TYROBP deletion is a novel risk factor for Alzheimer’s disease

Abstract Biallelic loss-of-function variants in TYROBP and TREM2 cause autosomal recessive presenile dementia with bone cysts known as Nasu-Hakola disease (NHD, alternatively polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, PLOSL). Some other TREM2 variants contribute to...

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Main Authors: Henna Martiskainen, Roosa-Maria Willman, Päivi Harju, Sami Heikkinen, Mette Heiskanen, Stephan A. Müller, Rosa Sinisalo, Mari Takalo, Petra Mäkinen, Teemu Kuulasmaa, Viivi Pekkala, Ana Galván del Rey, Sini-Pauliina Juopperi, Heli Jeskanen, Inka Kervinen, Kirsi Saastamoinen, FinnGen, Marja Niiranen, Sami V. Heikkinen, Mitja I. Kurki, Jarkko Marttila, Petri I. Mäkinen, Hannah Rostalski, Tomi Hietanen, Tiia Ngandu, Jenni Lehtisalo, Céline Bellenguez, Jean-Charles Lambert, Christian Haass, Juha Rinne, Juhana Hakumäki, Tuomas Rauramaa, Johanna Krüger, Hilkka Soininen, Annakaisa Haapasalo, Stefan F. Lichtenthaler, Ville Leinonen, Eino Solje, Mikko Hiltunen
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Molecular Neurodegeneration
Subjects:
Alzheimer’s disease
DAP12
Genetics
Nasu-Hakola disease
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
TYROBP
Online Access:https://doi.org/10.1186/s13024-025-00830-3
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