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Article

The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.

Neurology - 10 May 2005

Klünemann H H, Ridha B H, Magy L, Wherrett J R, Hemelsoet D M, Keen R W, De Bleecker J L, Rossor M N, Marienhagen J, Klein H E, Peltonen L, Paloneva J

Abstract excerpt

BACKGROUND: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), or Nasu-Hakola disease, is a presenile dementia associated with loss of myelin, basal ganglia calcification, and bone cysts. It is caused by recessively inherited mutations in two genes encoding subunits of a cell membrane-associated receptor complex: TREM2 and DAP12. The clinical course of PLOSL has not been...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15883308
DOI: 10.1212/01.WNL.0000160304.00003.CA

Genes

TREM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.PMID 15883308Read ↗

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Mutations in TREM2 lead to pure early-onset dementia without bone cysts.Semantic proximity Read ↗

Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.Semantic proximity Read ↗

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