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Article

C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation.

Neurobiology of aging - 1 Jul 2014

Solje Eino, Hartikainen Päivi, Valori Miko, Vanninen Ritva, Tiihonen Jari, Hakola Panu, Tienari Pentti J, Remes Anne M

Abstract excerpt

Nasu-Hakola disease (NHD) is a rare autosomal recessive disease that is characterized by cyst-like bone lesions and pathologic fractures combined with an early-onset frontal type of dementia. Mutations in DNAX-activation protein 12 (DAP12) and triggering receptor expressed on myeloid cells 2 (TREM2) are the known genetic causes of NHD. However, the role of both these genes in the neurodegenerative process is...

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PMID: 24612676
DOI: 10.1016/j.neurobiolaging.2014.01.149

Genes

TREM2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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