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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In the citing paper
“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]
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Nasu–Hakola disease and primary microglial dysfunction
Bianchin, M. M., Martin, K. C., de Souza, A. C., de Oliveira, M. A., & de Mello Rieder, C. R. (2010) · Nature Reviews Neurology · doi:10.1038/nrneurol.2010.17-c1 · Cited by 69
Ohara, T., Hata, J., Tanaka, M., Honda, T., Yamakage, H., Yoshida, D., Inoue, T., Hirakawa, Y., Kusakabe, T., Shibata, M., et al. (2018) · Annals of Neurology · doi:10.1002/ana.25385 · Cited by 67
Immunohistochemical characterization of microglia in Nasu‐Hakola disease brains
Satoh, J., Tabunoki, H., Ishida, T., Yagishita, S., Jinnai, K., Futamura, N., Kobayashi, M., Toyoshima, I., Yoshioka, T., Enomoto, K., et al. (2010) · Neuropathology · doi:10.1111/j.1440-1789.2010.01174.x · Cited by 67
Lue, L.-F., Schmitz, C., & Walker, D. G. (2015) · Neuroscience · doi:10.1016/j.neuroscience.2014.09.050 · Cited by 63
Rare TREM2 variants associated with Alzheimer’s disease display reduced cell surface expression
Sirkis, D. W., Bonham, L. W., Aparicio, R. E., Geier, E. G., Ramos, E. M., Wang, Q., Karydas, A., Miller, Z. A., Miller, B. L., Coppola, G., et al. (2016) · Acta Neuropathologica Communications · doi:10.1186/s40478-016-0367-7 · Cited by 61
Sharif, O., Gawish, R., Warszawska, J. M., Martins, R., Lakovits, K., Hladik, A., Doninger, B., Brunner, J. S., Korosec, A., Schwarzenbacher, R. E., et al. (2014) · PLoS Pathogens · doi:10.1371/journal.ppat.1004167 · Cited by 61
Exploring the Impact of TREM2 in Tumor-Associated Macrophages
Khantakova, D., Brioschi, S., & Molgora, M. (2022) · Vaccines · doi:10.3390/vaccines10060943 · Cited by 69
Nasu-Hakola disease with a splicing mutation of TREM2 in a Japanese family
Numasawa, Y., Yamaura, C., Ishihara, S., Shintani, S., Yamazaki, M., Tabunoki, H., & Satoh, J. (2010) · European Journal of Neurology · doi:10.1111/j.1468-1331.2010.03311.x · Cited by 58
Gervois, P., & Lambrichts, I. (2019) · Frontiers in Immunology · doi:10.3389/fimmu.2019.01668 · Cited by 59
TREM2 ‐dependent microglial function is essential for remyelination and subsequent neuroprotection
Wang, Y., Kyauk, R. V., Shen, Y. A., Xie, L., Reichelt, M., Lin, H., Jiang, Z., Ngu, H., Shen, K., Greene, J. J., et al. (2023) · Glia · doi:10.1002/glia.24335 · Cited by 54
Konno, T., Broderick, D. F., Mezaki, N., Isami, A., Kaneda, D., Tashiro, Y., Tokutake, T., Keegan, B. M., Woodruff, B. K., Miura, T., et al. (2016) · American Journal of Neuroradiology · doi:10.3174/ajnr.a4938 · Cited by 56
Microglia express ABI3 in the brains of Alzheimer's disease and Nasu-Hakola disease
Satoh, J.-I., Kino, Y., Yanaizu, M., Tosaki, Y., Sakai, K., Ishida, T., & Saito, Y. (2017) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2017.01073 · Cited by 55
Tribble, J. R., Harder, J. M., Williams, P. A., & John, S. W. M. (2020) · Molecular Brain · doi:10.1186/s13041-020-00603-7 · Cited by 55
Pocock, J., Vasilopoulou, F., Svensson, E., & Cosker, K. (2024) · Neuropharmacology · doi:10.1016/j.neuropharm.2024.110020 · Cited by 54
Genetics and molecular biology of brain calcification
Deng, H., Zheng, W. L., & Jankovic, J. J. (2015) · Ageing Research Reviews · doi:10.1016/j.arr.2015.04.004 · Cited by 55
Li, X., Montine, K. S., Keene, C. D., & Montine, T. J. (2015) · The FASEB Journal · doi:10.1096/fj.14-262683 · Cited by 54
Tran, K. M., Kawauchi, S., Kramár, E. A., Rezaie, N., Liang, H. Y., Sakr, J., Gómez-Arboledas, Á., Arreola, M. A., da Cunha, C., Phan, J., et al. (2023) · Molecular Neurodegeneration · doi:10.1186/s13024-023-00598-4 · Cited by 55
The therapeutic potential of TREM2 in cancer
Wolf, E. M., Fingleton, B., & Hasty, A. H. (2022) · Frontiers in Oncology · doi:10.3389/fonc.2022.984193 · Cited by 51
Microglia express GPNMB in the brains of Alzheimer's disease and Nasu-Hakola disease
Satoh, J., Kino, Y., Yanaizu, M., Ishida, T., & Saito, Y. (2019) · Intractable & Rare Diseases Research · doi:10.5582/irdr.2019.01049 · Cited by 48
Frontobasal gray matter loss is associated with the TREM2 p.R47H variant
Luis, E. O., Ortega-Cubero, S., Lamet, I., Razquin, C., Cruchaga, C., Benitez, B. A., Lorenzo, E., Irigoyen, J., Pastor, M. A., & Pastor, P. (2014) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2014.06.007 · Cited by 47
The Role of TREM2 in Alzheimer’s Disease and Other Neurological Disorders
Yaghmoor, F. (2014) · Journal of Alzheimer’s Disease & Parkinsonism · doi:10.4172/2161-0460.1000160 · Cited by 45
In Vitro Priming and Hyper-Activation of Brain Microglia: an Assessment of Phenotypes
Koss, K. M., Churchward, M. A., Tsui, C. T., & Todd, K. G. (2019) · Molecular Neurobiology · doi:10.1007/s12035-019-1529-y · Cited by 49
Rong, Z., Cheng, B., Zhong, L., Ye, X., Li, X., Jia, L., Li, Y., Shue, F., Wang, N., Cheng, Y., et al. (2020) · The FASEB Journal · doi:10.1096/fj.202000550rr · Cited by 49
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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