Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 [Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy].

Literature DB >> 15986257

[Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy].

B Lorch¹, K Henkel, H Schaab, W Aurnhammer, T Becker.

Abstract

A 32-year-old patient presented with presenile dementia syndrome and complex-partial seizures. The dementia was preceded by recurrent bone pain which led to surgical intervention for ossear cysts. Computed tomography revealed intracerebral calcification and marked brain atrophy. Clinical, radiological, genetic, and histopathological features of PLOSL disease are discussed in the differential diagnosis of presenile dementia and basal ganglia calcification.

Entities: Disease Species

Mesh：

Year: 2006 PMID： 15986257 DOI： 10.1007/s00115-005-1953-2

Source DB: PubMed Journal: Nervenarzt ISSN： 0028-2804 Impact factor: 1.214

Keyword Cloud
References

26 in total

1. DAP12-mediated signal transduction in natural killer cells. A dominant role for the Syk protein-tyrosine kinase.

Authors: D W McVicar; L S Taylor; P Gosselin; J Willette-Brown; A I Mikhael; R L Geahlen; M C Nakamura; P Linnemeyer; W E Seaman; S K Anderson; J R Ortaldo; L H Mason
Journal: J Biol Chem Date: 1998-12-04 Impact factor: 5.157

2. Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.

Authors: P Pekkarinen; I Hovatta; P Hakola; O Järvi; M Kestilä; U Lenkkeri; R Adolfsson; G Holmgren; P O Nylander; L Tranebjaerg; J D Terwilliger; J Lönnqvist; L Peltonen
Journal: Am J Hum Genet Date: 1998-02 Impact factor: 11.025

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

Authors: H P Hakola
Journal: Acta Psychiatr Scand Suppl Date: 1972

4. Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.

Authors: J Paloneva; M Kestilä; J Wu; A Salminen; T Böhling; V Ruotsalainen; P Hakola; A B Bakker; J H Phillips; P Pekkarinen; L L Lanier; T Timonen; L Peltonen
Journal: Nat Genet Date: 2000-07 Impact factor: 38.330

5. Neurophysiological findings in the hereditary presenile dementia characterised by polycystic lipomembranous osteodysplasia and sclerosing leukoencephalopathy.

Authors: H P Hakola; V S Partanen
Journal: J Neurol Neurosurg Psychiatry Date: 1983-06 Impact factor: 10.154

[Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy].

1. DAP12-mediated signal transduction in natural killer cells. A dominant role for the Syk protein-tyrosine kinase.

2. Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.

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

4. Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts.

5. Neurophysiological findings in the hereditary presenile dementia characterised by polycystic lipomembranous osteodysplasia and sclerosing leukoencephalopathy.

6. Calcification of the basal ganglia: computerized tomography and clinical correlation.

7. Ultrastructural lipid and glycoconjugate cytochemistry of membranous lipodystrophy (Nasu-Hakola disease).

8. Significance of basal ganglia calcification on computed tomography in children.

9. Peripheral motor-sensory neuropathy in membranous lipodystrophy (Nasu's disease): a case report.

10. Impaired differentiation of osteoclasts in TREM-2-deficient individuals.