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Cellular and Molecular Neurobiology

, Volume 24, Issue 1, pp 1–24 | Cite as

Nasu–Hakola Disease (Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy—PLOSL): A Dementia Associated with Bone Cystic Lesions. From Clinical to Genetic and Molecular Aspects

  • Marino Muxfeldt Bianchin
  • Heraldo M. Capella
  • Daniel Loureiro Chaves
  • Mário Steindel
  • Edmundo C. Grisard
  • Gerson Gandi Ganev
  • João Péricles da SilvaJr.
  • Evaldo Schaeffer Neto
  • Mônica Aparecida Poffo
  • Roger Walz
  • Carlos G. CarlottiJr.
  • Américo C. Sakamoto
Article

Abstract

The authors review the clinical, radiological, electrophysiological, pathological, and molecular aspects of Nasu–Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy or PLOSL). Nasu-Hakola disease is a unique disease characterized by multiple bone cysts associated with a peculiar form of neurodegeneration that leads to dementia and precocious death usually during the fifth decade of life. The diagnosis can be established on the basis of clinical and radiological findings. Recently, molecular analysis of affected families revealed mutations in the DAP12 (TYROBP) or TREM2 genes, providing an interesting example how mutations in two different subunits of a multi-subunit receptor complex result in an identical human disease phenotype. The association of PLOSL with mutations in the DAP12 or TREM2 genes has led to improved diagnosis of affected individuals. Also, the possible roles of the DAP12/TREM2 signaling pathway in microglia and osteoclasts in humans are just beginning to be elucidated. Some aspects of this peculiar signaling pathway are discussed here.

frontal dementia frontotemporal dementia microglia osteoclasts KARAP DAP12 TYROBP TREM2 

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Copyright information

© Plenum Publishing Corporation 2004

Authors and Affiliations

  • Marino Muxfeldt Bianchin
    • 1
    • 2
  • Heraldo M. Capella
    • 2
  • Daniel Loureiro Chaves
    • 2
    • 3
    • 4
  • Mário Steindel
    • 5
  • Edmundo C. Grisard
    • 5
  • Gerson Gandi Ganev
    • 2
  • João Péricles da SilvaJr.
    • 6
    • 7
  • Evaldo Schaeffer Neto
    • 4
    • 8
  • Mônica Aparecida Poffo
    • 2
  • Roger Walz
    • 1
  • Carlos G. CarlottiJr.
    • 1
    • 9
  • Américo C. Sakamoto
    • 1
  1. 1.CIREP, Department of Neurology, Psychiatry and Medical Psychology, Ribeirão Preto School of MedicineUniversity of São PauloRibeirão Preto, SPBrazil
  2. 2.Hospital Regional de São José Homero de Miranda GomesSanta CatarinaBrazil
  3. 3.Diagnóstico Médico por Imagem—DMISanta CatarinaBrazil
  4. 4.Hospital Governador Celso Ramos, FlorianópolisSanta CatarinaBrazil
  5. 5.Departamento de Microbiologia e ParasitologiaUniversidade Federal de Santa CatarinaSanta CatarinaBrazil
  6. 6.Departamento de PatologiaUniversidade Federal de Santa CatarinaSanta CatarinaBrazil
  7. 7.FlorianópolisLaboratório de Anatomia Patológica Ltda—APSanta CatarinaBrazil
  8. 8.SONITEC—Diagnóstico Por ImagemSanta CatarinaBrazil
  9. 9.Laboratory of Molecular Biology, Surgery Departament, Ribeirão Preto School of Medicine, University HospitalUniversity of São PauloPreto, SPBrazil

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