Neuropsychiatric and genetic aspects of a new hereditary disease characterized by progressive dementia and lipomembranous polycystic osteodysplasia.

نویسنده

  • H P Hakola
چکیده

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Nasu-Hakola disease: a rare entity in Italy. Critical review of the literature.

Nasu-Hakola disease (NHD, polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, PLOSL) is a recessively inherited disorder characterized by systemic bone cysts and progressive presenile dementia associated with sclerosing encephalopathy. The disease has a worldwide distribution, but most patients have been reported in Finland and in Japan; in Italy there are anecdotal re...

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The combination of bilateral lytic lesions in the bones of the lower and upper extremities and presenile dementia is characteristic of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy, also known as Nasu-Hakola disease. The clinical course of this rare and fatal disorder is characterized by pathologic fractures of these often painful lesions, rapid progression of dem...

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Extremity Manifestations and Surgical Treatment for Nasu Hakola Disease

Nasu-Hakola disease, which is also known as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare and mortal human genetic disorder (Verloes et al., (1997) and Bianchin et al., (2004)). Nasu-Hakola is a progressive disease characterized by early onset cognitive dementia and bone cysts (both evident by the third decade). The disease has a worldwide distr...

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Computed tomography and magnetic resonance imaging in the osseous phase of Nasu-Hakola disease.

Nasu-Hakola disease (NHD-polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL) is a rare autosomal recessive disorder, caused by mutations in two genes: TREM 2 and DAP 12. NHD is characterized by a combination of diffuse bone cysts and pre-senile dementia. Most of the NHD cases first present in early adulthood with skeletal abnormalities (osseous phase). Neurologi...

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عنوان ژورنال:
  • Acta psychiatrica Scandinavica. Supplementum

دوره 232  شماره 

صفحات  -

تاریخ انتشار 1972