Klünemann, Hans H. and Ridha, H. and Magy, L. and Wherrett, J. R. and Hemelsoet, D. M. and Keen, R. W. and De Bleecker, J. L. and Rossor, M. N. and Marienhagen, J. and Klein, H. E. and Peltonen, L. and Paloneva, J. (2005) The genetic causes of basal ganglia calcification, dementia, and bone cysts DAP12 and TREM2. NEUROLOGY, 64 (9). pp. 1502-1507. ISSN 0028-3878, 1526-632X
Full text not available from this repository. (Request a copy)Abstract
Background: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), or Nasu-Hakola disease, is a presenile dementia associated with loss of myelin, basal ganglia calcification, and bone cysts. It is caused by recessively inherited mutations in two genes encoding subunits of a cell membrane-associated receptor complex: TREM2 and DAP12. The clinical course of PLOSL has not been characterized in a series of patients with TREM2 mutations. Methods: The authors compare neurologic and neuroradiologic follow-up data of six patients carrying TREM2 mutations with PLOSL due to defective DAP12 genes. The authors review the known mutations in these two genes. Results: Mutations in DAP12 and TREM2 result in a uniform disease phenotype. In Finnish and Japanese patients with PLOSL, DAP12 mutations predominate, whereas TREM2 is mutated more frequently elsewhere. Conclusions: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy should be considered in adult patients under age 50 years with dementia and basal ganglia calcification. Radiographs of ankles and wrists, and DNA test in uncertain cases, confirm the diagnosis.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA; NASU-HAKOLA-DISEASE; SCLEROSING LEUKOENCEPHALOPATHY; PRESENILE-DEMENTIA; MEMBRANOUS LIPODYSTROPHY; DIFFERENTIATION; MUTATIONS; BRAIN |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Psychiatrie und Psychotherapie Medicine > Abteilung für Nuklearmedizin |
| Depositing User: | Petra Gürster |
| Date Deposited: | 24 Mar 2022 07:57 |
| Last Modified: | 24 Mar 2022 07:57 |
| URI: | https://pred.uni-regensburg.de/id/eprint/36136 |
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