KEGG DISEASE: Nasu-Hakola disease

KEGG

DISEASE: Nasu-Hakola disease

Entry

H00438                      Disease

Name

Nasu-Hakola disease;
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy

Description

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), or Nasu-Hakola disease is an autosomal recessive inherited disorder. It is characterized by repeated fractures occurring during adolescence and progressive presenile dementia in the fourth decade. The disease is caused by a mutation in the TREM2 or DAP12 gene that regulates osteoclast differentiation. TREM2-DAP12 is also expressed by microglia, thus neurological impairments seen in this disease are considered to be directly caused by microglial dysfunction.

Category

Inherited metabolic disorder

Brite

Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
  Multiple sclerosis or other white matter disorders
   8A44  Leukodystrophies
    H00438  Nasu-Hakola disease

Pathway

Osteoclast differentiation

Gene

(PLOSL1) DAP12 [HSA:7305] [KO:K07992]
(PLOSL2) TREM2 [HSA:54209] [KO:K14378]

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

Authors

Kaneko M, Sano K, Nakayama J, Amano N

Title

Nasu-Hakola disease: The first case reported by Nasu and review: The 50th Anniversary of Japanese Society of Neuropathology.

Journal

Neuropathology 30:463-70 (2010)
DOI:10.1111/j.1440-1789.2010.01127.x

Reference

Authors

Bianchin MM, Martin KC, de Souza AC, de Oliveira MA, Rieder CR

Title

Nasu-Hakola disease and primary microglial dysfunction.

Journal

Nat Rev Neurol 6:2 p following 523 (2010)
DOI:10.1038/nrneurol.2010.17-c1

Reference

Authors

Paloneva J, Autti T, Hakola P, Haltia MJ

Title

Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL)

Journal

GeneReviews (1993)

LinkDB

» Japanese version

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