Authors: Bianchin M.M.¹; Capella H.M.²; Chaves D.L.³; Steindel M.⁴; Grisard E.C.⁴; Ganev G.G.²; da Silva Jr. J.P.⁵; Neto E.S.⁶; Poffo M.A.²; Walz R.⁷; Carlotti Jr. C.G.⁸; Sakamoto A.C.⁷

Source: Cellular and Molecular Neurobiology, Volume 24, Number 1, February 2004 , pp. 1-24(24)

Publisher: Springer

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.

Keywords: frontal dementia; frontotemporal dementia; microglia; osteoclasts; KARAP; DAP12; TYROBP; TREM2

Document Type: Review article

DOI: http://dx.doi.org/10.1023/B:CEMN.0000012721.08168.ee

Affiliations: 1: CIREP, Department of Neurology, Psychiatry and Medical Psychology, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, SP, Brazil. Hospital Regional de São José Homero de Miranda Gomes, São José, Santa Catarina, Brazil;, Email: mmbianchin@rnp.fmrp.usp.br 2: Hospital Regional de São José Homero de Miranda Gomes, São José, Santa Catarina, Brazil 3: Hospital Regional de São José Homero de Miranda Gomes, São José, Santa Catarina, Brazil. Diagnóstico Médico por Imagem—DMI, São José, Santa Catarina, Brazil. Hospital Governador Celso Ramos, Florianópolis, Santa Catarina, Brazil 4: Departamento de Microbiologia e Parasitologia, Universidade Federal de Santa Catarina, Florianópolis, Santa Catarina, Brazil 5: Departamento de Patologia, Universidade Federal de Santa Catarina, Florianópolis, Santa Catarina, Brazil. Laboratório de Anatomia Patológica Ltda—AP, Florianópolis, Santa Catarina, Brazil 6: Hospital Governador Celso Ramos, Florianópolis, Santa Catarina, Brazil. SONITEC—Diagnóstico Por Imagem, Florianópolis, Santa Catarina, Brazil 7: CIREP, Department of Neurology, Psychiatry and Medical Psychology, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, SP, Brazil 8: CIREP, Department of Neurology, Psychiatry and Medical Psychology, Ribeirão Preto School of Medicine, University of São Paulo, Ribeirão Preto, SP, Brazil. Laboratory of Molecular Biology, Surgery Departament, Ribeirão Preto School of Medicine, University Hospital, University of São Paulo, Ribeirão Preto, SP, Brazil

Publication date: 2004-02-01

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• In this Subject: Anatomy & Physiology ,  Zoology ,  Neurology & Psychiatry
• By this author: Bianchin M.M. ;  Capella H.M. ;  Chaves D.L. ;  Steindel M. ;  Grisard E.C. ;  Ganev G.G. ;  da Silva Jr. J.P. ;  Neto E.S. ;  Poffo M.A. ;  Walz R. ;  Carlotti Jr. C.G. ;  Sakamoto A.C.

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