Publication Cover
Neurocase
Behavior, Cognition and Neuroscience
Volume 22, 2016 - Issue 3
332
Views
10
CrossRef citations to date
0
Altmetric
Review

A young-onset frontal dementia with dramatic calcifications due to a novel CSF1R mutation

ORCID Icon, , , &
Pages 257-262 | Received 11 Sep 2015, Accepted 23 Mar 2016, Published online: 19 Apr 2016

References

  • Axelsson, R., Roytta, M., Sourander, P., Akesson, H. O., & Andersen, O. (1984). Hereditary diffuse leucoencephalopathy with spheroids. Acta Psychiatrica Scandinavica Supplementum, 314, 1–65.
  • Battisti, C., Di Donato, I., Bianchi, S., Monti, L., Formichi, P., Rufa, A., & Federico, A. (2014). Hereditary diffuse leukoencephalopathy with axonal spheroids: Three patients with stroke-like presentation carrying new mutations in the CSF1R gene. Journal of Neurology, 261, 768–772. doi:10.1007/s00415-014-7257-3
  • Benke, T., Karner, E., Seppi, K., Delazer, M., Marksteiner, J., & Donnemiller, E. (2004). Subacute dementia and imaging correlates in a case of Fahr’s disease. Journal of Neurology, Neurosurgery & Psychiatry, 75, 1163–1165. doi:10.1136/jnnp.2003.019547
  • Exome Variant Server, NHLBI GO Exome Sequencing Project (ESP). Retrieved August, 2015 from http://evs.gs.washington.edu/EVS/
  • Gieselmann, V., Zlotogora, J., Harris, A., Wenger, D. A., & Morris, C. P. (1994). Molecular genetics of metachromatic leukodystrophy. Human Mutation, 4, 233–242. doi:10.1002/humu.1380040402
  • Gray, F., Destee, A., Bourre, J. M., Gherardi, R., Krivosic, I., Warot, P., & Poirier, J. (1987). Pigmentary type of orthochromatic leukodystrophy (OLD): A new case with ultrastructural and biochemical study. Journal of Neuropathology and Experimental Neurology, 46, 585–596. doi:10.1097/00005072-198709000-00007
  • Hodge, J. M., Kirkland, M. A., & Nicholson, G. C. (2007). Multiple roles of M-CSF in human osteoclastogenesis. Journal of Cellular Biochemistry, 102, 759–768. doi:10.1002/jcb.21331
  • Insogna, K. L., Sahni, M., Grey, A. B., Tanaka, S., Horne, W. C., Neff, L., & Baron, R. (1997). Colony-stimulating factor-1 induces cytoskeletal reorganization and c-src-dependent tyrosine phosphorylation of selected cellular proteins in rodent osteoclasts. The Journal of Clinical Investigation, 100, 2476–2485. doi:10.1172/jci119790
  • Jones, J. L., Kruszon-Moran, D., Wilson, M., McQuillan, G., Navin, T., & McAuley, J. B. (2001). Toxoplasma gondii infection in the United States: Seroprevalence and risk factors. American Journal of Epidemiology, 154, 357–365. doi:10.1093/aje/154.4.357
  • Kleinfeld, K., Mobley, B., Hedera, P., Wegner, A., Sriram, S., & Pawate, S. (2013). Adult-onset leukoencephalopathy with neuroaxonal spheroids and pigmented glia: Report of five cases and a new mutation. Journal of Neurology, 260, 558–571. doi:10.1007/s00415-012-6680-6
  • Klunemann, H. H., Ridha, B. H., Magy, L., Wherrett, J. R., Hemelsoet, D. M., Keen, R. W., & Paloneva, J. (2005). The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. Neurology, 64, 1502–1507. doi:10.1212/01.wnl.0000160304.00003.ca
  • Konno, T., Tada, M., Tada, M., Koyama, A., Nozaki, H., Harigaya, Y., & Ikeuchi, T. (2014). Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. Neurology, 82, 139–148. doi:10.1212/wnl.0000000000000046
  • Konno, T., Tada, M., Tada, M., Nishizawa, M., & Ikeuchi, T. (2014). Hereditary diffuse leukoencephalopathy with spheroids (HDLS): A review of the literature on its clinical characteristics and mutations in the colony-stimulating factor-1 receptor gene. Brain Nerve, 66, 581–590.
  • MacFaul, R., Cavanagh, N., Lake, B. D., Stephens, R., & Whitfield, A. E. (1982). Metachromatic leucodystrophy: Review of 38 cases. Archives of Disease in Childhood, 57, 168–175. doi:10.1136/adc.57.3.168
  • Martinez-Saez, E., Shah, S., Costa, C., Fleminger, S., Connor, S., & Bodi, I. (2012). Adult onset leukodystrophy with neuroaxonal spheroids and demyelinating plaque-like lesions. Neuropathology, 32, 285–292. doi:10.1111/j.1440-1789.2011.01257.x
  • Michael Entezami, U. K. (2002). Ultrasound diagnosis of fetal anomalies. ( S. Runkel, Trans.). Stuttgart, Germany: Georg Thieme Verlag.
  • Mushtaq, R., Shoib, S., Raju, M. S., Naphade, N., Shah, T., & Pawar, A. (2013). Neuropsychiatric manifestations of Fahr’s disease pathogenesis and potential for treatment. Industrial Psychiatry Journal, 22, 153–154. doi:10.4103/0972-6748.132931
  • Nicholson, A. M., Baker, M. C., Finch, N. A., Rutherford, N. J., Wider, C., Graff-Radford, N. R., & Rademakers, R. (2013). CSF1R mutations link POLD and HDLS as a single disease entity. Neurology, 80, 1033–1040. doi:10.1212/WNL.0b013e31828726a7
  • Otero, K., Turnbull, I. R., Poliani, P. L., Vermi, W., Cerutti, E., Aoshi, T., & Colonna, M. (2009). Macrophage colony-stimulating factor induces the proliferation and survival of macrophages via a pathway involving DAP12 and beta-catenin. Nature Immunology, 10, 734–743. doi:10.1038/ni.1744
  • Paloneva, J., Autti, T., Raininko, R., Partanen, J., Salonen, O., Puranen, M., & Haltia, M. (2001). CNS manifestations of Nasu-Hakola disease: A frontal dementia with bone cysts. Neurology, 56, 1552–1558. doi:10.1212/WNL.56.11.1552
  • Pareyson, D., Fancellu, R., Mariotti, C., Romano, S., Salmaggi, A., Carella, F., & Savoiardo, M. (2008). Adult-onset Alexander disease: A series of eleven unrelated cases with review of the literature. Brain : A Journal of Neurology, 131, 2321–2331. doi:10.1093/brain/awn178
  • Rademakers, R., Baker, M., Nicholson, A. M., Rutherford, N. J., Finch, N., Soto-Ortolaza, A., & Wszolek, Z. K. (2012). Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nature Genetics, 44, 200–205. doi:10.1038/ng.1027
  • Shrestha, R., Wuerz, T., & Appleby, B. S. (2015). Rapidly progressive young-onset dementias: Neuropsychiatric aspects. Psychiatric Clinics of North America, 38, 221–232. doi:10.1016/j.psc.2015.01.001
  • Smith, A. M., Gibbons, H. M., Oldfield, R. L., Bergin, P. M., Mee, E. W., Curtis, M. A., & Dragunow, M. (2013). M-CSF increases proliferation and phagocytosis while modulating receptor and transcription factor expression in adult human microglia. Journal of Neuroinflammation, 10, 85. doi:10.1186/1742-2094-10-85
  • Stephenson, J. B. (2008). Aicardi-Goutieres syndrome (AGS). European Journal of Paediatric Neurology, 12, 355–358. doi:10.1016/j.ejpn.2007.11.010
  • Sundal, C., Baker, M., Karrenbauer, V., Gustavsen, M., Bedri, S., Glaser, A., & Andersen, O. (2015). Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis. European Journal of Neurology: The Official Journal of the European Federation of Neurological Societies, 22, 328–333. doi:10.1111/ene.12572
  • Sundal, C., Fujioka, S., Van Gerpen, J. A., Wider, C., Nicholson, A. M., Baker, M., & Wszolek, Z. K. (2013). Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. Parkinsonism & Related Disorders, 19, 869–877. doi:10.1016/j.parkreldis.2013.05.013
  • Sundal, C., & Wszolek, Z. (1993). Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. In R. A. Pagon, M. P. Adam, H. H. Ardinger, S. E. Wallace, A. Amemiya, L. J. H. Bean … K. Stephens (Eds.), GeneReviews(R). Seattle, WA: University of Washington, Seattle. (All rights reserved)
  • Tanaka, J. (2000). Nasu-Hakola disease: A review of its leukoencephalopathic and membranolipodystrophic features. Neuropathology, 20, S25–29. doi:10.1046/j.1440-1789.2000.00297.x
  • Yaghmoor, F., Noorsaeed, A., Alsaggaf, S., Aljohani, W., Scholtzova, H., Boutajangout, A., & Wisniewski, T. (2014). The role of TREM2 in Alzheimer’s disease and other neurological disorders. Journal of Alzheimer’s Disease and Parkinsonism, 4. doi:10.4172/2161-0460.1000160

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.