The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.
The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2
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.
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“Neuropathological findings in NHD include loss of myelin and axons in the brain, with reactive astrocytosis and microglial activation [25].”
From TREM2 activation on microglia promotes myelin debris clearance and remyelination in a model of multiple sclerosis (2020) · cites this paper as [25]
In the citing paper
“NHD is characterized by loss of myelin and microglia activation in the CNS [25].”
From TREM2 activation on microglia promotes myelin debris clearance and remyelination in a model of multiple sclerosis (2020) · cites this paper as [25]
In the citing paper
“Nasu-Hakola disease (NHD) is a rare autosomal recessive leukoencephalopathy caused by a loss-of-function mutation of either TYROBP (DAP12) or TREM2 expressed in microglia.”
From Microglia express ABI3 in the brains of Alzheimer's disease and Nasu-Hakola disease (2017) · cites this paper as [1]
Citations
Cites
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Takahashi, K., Rochford, C. D. P., & Neumann, H. (2005) · The Journal of Experimental Medicine · doi:10.1084/jem.20041611 · Cited by 1,124
TREM-1 amplifies inflammation and is a crucial mediator of septic shock
Bouchon, A., Facchetti, F., Weigand, M. A., & Colonna, M. (2001) · Nature · doi:10.1038/35074114 · Cited by 1,092
Paloneva, J., Manninen, T., Christman, G., Hovanes, K., Mandelin, J., Adolfsson, R., Bianchin, M., Bird, T., Miranda, R., Salmaggi, A., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/342259 · Cited by 683
Self-citationAssociation of DAP12 with Activating CD94/NKG2C NK Cell Receptors
Lanier, L. L., Corliss, B. C., Wu, J., & Phillips, J. H. (1998) · Immunity · doi:10.1016/s1074-7613(00)80574-9 · Cited by 560
Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts
Paloneva, J., Kestilä, M., Wu, J., Salminen, A., Böhling, T., Ruotsalainen, V., Hakola, P., Bakker, A. B. H., Phillips, J. H., Pekkarinen, P., et al. (2000) · Nature Genetics · doi:10.1038/77153 · Cited by 460
Self-citationDAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features
Paloneva, J., Mandelin, J., Kiialainen, A., Böhling, T., Prudlo, J., Hakola, P., Haltia, M., Konttinen, Y. T., & Peltonen, L. (2003) · The Journal of Experimental Medicine · doi:10.1084/jem.20030027 · Cited by 318
Self-citationColonna, M., & Facchetti, F. (2003) · The Journal of Infectious Diseases · doi:10.1086/374754 · Cited by 281
DAP12-deficient mice fail to develop autoimmunity due to impaired antigen priming.
Bakker, A. B., Hoek, R., Cerwenka, A., Blom, B., Lucian, L., McNeil, T., Murray, R., Phillips, L., Sedgwick, J., & Lanier, L. (2000) · Immunity · doi:10.1016/s1074-7613(00)00034-0 · Cited by 269
Impaired Differentiation of Osteoclasts in TREM-2–deficient Individuals
Cella, M., Buonsanti, C., Strader, C., Kondo, T., Salmaggi, A., & Colonna, M. (2003) · Journal of Experimental Medicine · doi:10.1084/jem.20022220 · Cited by 256
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- Hakola HP. Benton's Visual Retention Test in patients with polycystic lipomembranous dysplasia with sclerosing leukoencephalopathy. Dement Geriatr Cogn Disord 1998;9:39–43.
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Kleinberger, G., Yamanishi, Y., Suárez-Calvet, M., Czirr, E., Lohmann, E., Cuyvers, E., Struyfs, H., Pettkus, N., Wenninger-Weinzierl, A., Mazaheri, F., et al. (2014) · Science Translational Medicine · doi:10.1126/scitranslmed.3009093 · Cited by 798
Metadata
- Authors
- Klünemann, H. H., Ridha, B. H., Magy, L., Wherrett, J. R., Hemelsoet, D. M., Keen, R. W., De Bleecker, J. L., Rossor, M. N., Marienhagen, J., Klein, H. E., Peltonen, L., & Paloneva, J.
- Affiliations
- From the Departments of Psychiatry and Psychotherapy (Drs. Klünemann and Klein) and Nuclear Medicine (Dr. Marienhagen), University of Regensburg School of Medicine, Germany; Dementia Research Centre (Drs. Ridha and Rossor), National Hospital for Neurology and Neurosurgery, London, UK; Neurology Service (Dr. Magy), Dupuytren University Hospital, Limoges, France; Division of Neurology (Dr. Wherrett), Toronto Western Hospital and University of Toronto, Ontario, Canada; Department of Neurology (Drs....
- University of Toronto (CA)
- Venue
- Neurology
- Published
- 2005-05-10
- Volume
- 64
- Issue
- 9
- Pages
- 1502-1507
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W2111606353
- Cited by
- 254
- References
- 24
- Citations by year
- 2026: 8 · 2025: 11 · 2024: 12 · 2023: 31 · 2022: 16 · 2021: 13 · 2020: 18 · 2019: 14 · 2018: 15 · 2017: 21 · 2016: 14 · 2015: 11 · 2014: 19 · 2013: 12 · 2012: 6
- FWCI
- 3.02
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- University of Regensburg Publication Server (University of Regensburg) (acceptedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- DIAL (Catholic University of Leuven) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Life Sciences › Neuroscience › Neurology › Neuroinflammation and Neurodegeneration Mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Keywords
- Nasu-Hakola disease, basal ganglia calcification, dementia, bone cysts, demyelination, early-onset dementia, genetic diagnosis, Finnish patients, Japanese patients
- MeSH terms
- Adult, Age Factors, Alzheimer Disease, Ankle Joint, Basal Ganglia Diseases, Bone and Bones, Bone Cysts, Bone Diseases, Calcinosis, Diagnosis, Differential, DNA Mutational Analysis, Female, Follow-Up Studies, Genetic Testing, Humans, Magnetic Resonance Imaging, Male, Membrane Glycoproteins, Membrane Proteins, Mutation, Receptors, Immunologic, Syndrome, Tomography, X-Ray Computed, Wrist Joint, Disease Progression, Genetic Predisposition to Disease, Adaptor Proteins, Signal Transducing
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