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Article

Heterozygous TYROBP deletion (PLOSLFIN) is not a strong risk factor for cognitive impairment.

Neurobiology of aging - 1 Apr 2018

Kaivola Karri, Jansson Lilja, Saarentaus Elmo, Kiviharju Anna, Rantalainen Ville, Eriksson Johan G, Strandberg Timo E, Polvikoski Tuomo, Myllykangas Liisa, Tienari Pentti J

Abstract excerpt

Biallelic loss-of-function mutations in TYROBP and TREM2 cause a rare disease that resembles early-onset frontotemporal dementia with bone lesions called polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL). Some PLOSL-causing variants in TREM2 have also been associated with Alzheimer's disease when heterozygous. Here, we studied the PLOSLFINTYROBP deletion that covers 4 of the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29336840
DOI: 10.1016/j.neurobiolaging.2017.12.008

Genes

TYROBP
TREM2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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