Nasu-Hakola disease and primary microglial dysfunction

Nature Reviews Neurology

Volumn 6, Issue 9, 2010, Pages 1-2

  Bianchin, Marino M ^a   Martin, Kelin C ^a   De Souza, Ana C ^a   De Oliveira, Marina A ^a   De Mello Rieder, Carlos R ^a  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

REGULATOR PROTEIN; TREM2 PROTEIN; TYROBP PROTEIN; UNCLASSIFIED DRUG;

APOPTOSIS; ASTROCYTE; BASAL GANGLION; BONE CYST; BRAIN ATROPHY; CELL ACTIVATION; CENTRAL NERVOUS SYSTEM DISEASE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC DISORDER; HUMAN; LETTER; MEMBRANOUS LIPODYSTROPHY; MICROGLIA; PRESENILE DEMENTIA; PRIORITY JOURNAL; WHITE MATTER;

EID: 77956302950     PISSN: 17594758     EISSN: 17594766     Source Type: Journal    
DOI: 10.1038/nrneurol.2010.17-c1     Document Type: Letter

References (15)

1. Perry, V. H., Nicoll, J. A. & Holmes, C. Microglia in neurodegenerative disease. Nat. Rev. Neurol. 6, 193-201 (2010).
2. Bianchin, M. M. et al. Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy-PLOSL): a dementia associated with bone cystic lesions. From clinical to genetic and molecular aspects. Cell Mol. Neurobiol. 24, 1-24 (2004).
3. Paloneva, J. et al. CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts. Neurology 56, 1552-1558 (2001).
4. Chouery, E. et al. Mutations in TREM2 lead to pure early-onset dementia without bone cysts. Hum. Mutat. 29, E194-E204 (2008).
5. Paloneva, J. et al. Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. Nat. Genet. 25, 357-361 (2000).
6. Paloneva, J. et al. DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features. J. Exp. Med. 198, 669-675 (2003).
7. Bianchin, M. M., Lima, J. E., Natel, J. & Sakamoto, A. C. The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. Neurology 66, 615-616 (2006).
8. Thrash, J. C., Torbett, B. E. & Carson, M. J. Developmental regulation of TREM2 and DAP12 expression in the murine CNS: implications for Nasu-Hakola disease. Neurochem. Res. 34, 38-45 (2009).
9. Neumann, H. & Takahashi, K. Essential role of the microglial triggering receptor expressed on myeloid cells-2 (TREM2) for central nervous tissue immune homeostasis. J. Neuroimmunol. 184, 92-99 (2007).
10. Tanaka, J. Nasu-Hakola disease: a review of its leukoencephalopathic and membranolipodystrophic features. Neuropathology 20 (Suppl.), S25-29 (2000).
11. Kiialainen, A., Hovanes, K., Paloneva, J., Kopra, O. & Peltonen, L. Dap12 and Trem2, molecules involved in innate immunity and neurodegeneration, are co-expressed in the CNS. Neurobiol. Dis. 18, 314-322 (2005).
12. Paloneva, J. et al. Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype. Am. J. Hum. Genet. 71, 656-662 (2002).
13. Cella, M. et al. Impaired differentiation of osteoclasts in TREM-2-deficient individuals. J. Exp. Med. 198, 645-651 (2003).
14. Colonna, M. TREMs in the immune system and beyond. Nat. Rev. Immunol. 3, 445-453 (2003).
15. Takahashi, K., Rochford, C. D. & Neumann, H. Clearance of apoptotic neurons without inflammation by microglial triggering receptor expressed on myeloid cells-2. J. Exp. Med. 201, 647-657 (2005).