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

doi:10.1186/s13024-025-00830-3

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Article

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

Molecular neurodegeneration - 29 Apr 2025

Martiskainen Henna, Willman Roosa-Maria, Harju Päivi, Heikkinen Sami, Heiskanen Mette, Müller Stephan A, Sinisalo Rosa, Takalo Mari, Mäkinen Petra, Kuulasmaa Teemu, Pekkala Viivi, Galván Del Rey Ana, Juopperi Sini-Pauliina, Jeskanen Heli, Kervinen Inka, Saastamoinen Kirsi, Niiranen Marja, Heikkinen Sami V, Kurki Mitja I, Marttila Jarkko, Mäkinen Petri I, Rostalski Hannah, Hietanen Tomi, Ngandu Tiia, Lehtisalo Jenni, Bellenguez Céline, Lambert Jean-Charles, Haass Christian, Rinne Juha, Hakumäki Juhana, Rauramaa Tuomas, Krüger Johanna, Soininen Hilkka, Haapasalo Annakaisa, Lichtenthaler Stefan F, Leinonen Ville, Solje Eino, Hiltunen Mikko

Abstract excerpt

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 the risk of Alzheimer's disease (AD) and frontotemporal dementia, while deleterious TYROBP variants are globally extremely...

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Identifiers

PMID: 40301889
DOI: 10.1186/s13024-025-00830-3
PMCID: PMC12038944

Genes

TYROBP
TREM2

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