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The genetic causes of basal ganglia calcification, dementia, and bone cysts DAP12 and TREM2

HH Klunemann, H Ridha, L Magy, JR Wherrett, Dimitri Hemelsoet, RW Keen, Jan De Bleecker UGent, MN Rossor, J Marienhagen, HE Klein, et al. (2005) NEUROLOGY. 64(9). p.1502-1507
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.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (review)
publication status
published
subject
keyword
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA, NASU-HAKOLA-DISEASE, SCLEROSING LEUKOENCEPHALOPATHY, PRESENILE-DEMENTIA, MEMBRANOUS LIPODYSTROPHY, DIFFERENTIATION, MUTATIONS, BRAIN
journal title
NEUROLOGY
Neurology
volume
64
issue
9
pages
1502 - 1507
Web of Science type
Review
Web of Science id
000228995600005
JCR category
CLINICAL NEUROLOGY
JCR impact factor
4.947 (2005)
JCR rank
7/147 (2005)
JCR quartile
1 (2005)
ISSN
0028-3878
DOI
10.1212/01.WNL.0000160304.00003.CA
language
English
UGent publication?
yes
classification
A1
id
326076
handle
http://hdl.handle.net/1854/LU-326076
date created
2006-02-09 16:39:00
date last changed
2018-05-15 12:38:15
@article{326076,
  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.},
  author       = {Klunemann, HH and Ridha, H and Magy, L and Wherrett, JR and Hemelsoet, Dimitri and Keen, RW and De Bleecker, Jan and Rossor, MN and Marienhagen, J and Klein, HE and Peltonen, L and Paloneva, J},
  issn         = {0028-3878},
  journal      = {NEUROLOGY},
  keyword      = {POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA,NASU-HAKOLA-DISEASE,SCLEROSING LEUKOENCEPHALOPATHY,PRESENILE-DEMENTIA,MEMBRANOUS LIPODYSTROPHY,DIFFERENTIATION,MUTATIONS,BRAIN},
  language     = {eng},
  number       = {9},
  pages        = {1502--1507},
  title        = {The genetic causes of basal ganglia calcification, dementia, and bone cysts DAP12 and TREM2},
  url          = {http://dx.doi.org/10.1212/01.WNL.0000160304.00003.CA},
  volume       = {64},
  year         = {2005},
}

Chicago
Klunemann, HH, H Ridha, L Magy, JR Wherrett, Dimitri Hemelsoet, RW Keen, Jan De Bleecker, et al. 2005. “The Genetic Causes of Basal Ganglia Calcification, Dementia, and Bone Cysts DAP12 and TREM2.” Neurology 64 (9): 1502–1507.
APA
Klunemann, H., Ridha, H., Magy, L., Wherrett, J., Hemelsoet, D., Keen, R., De Bleecker, J., et al. (2005). The genetic causes of basal ganglia calcification, dementia, and bone cysts DAP12 and TREM2. NEUROLOGY, 64(9), 1502–1507.
Vancouver
1.
Klunemann H, Ridha H, Magy L, Wherrett J, Hemelsoet D, Keen R, et al. The genetic causes of basal ganglia calcification, dementia, and bone cysts DAP12 and TREM2. NEUROLOGY. 2005;64(9):1502–7.
MLA
Klunemann, HH, H Ridha, L Magy, et al. “The Genetic Causes of Basal Ganglia Calcification, Dementia, and Bone Cysts DAP12 and TREM2.” NEUROLOGY 64.9 (2005): 1502–1507. Print.