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Neurocase
Behavior, Cognition and Neuroscience
Volume 25, 2019 - Issue 1-2
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Articles

CSF1R mutation presenting as dementia with Lewy bodies

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Pages 17-20 | Received 02 Oct 2018, Accepted 18 Mar 2019, Published online: 10 Apr 2019

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.
  • Freeman, S. H., Hyman, B. T., Sims, K. B., Hedley-Whyte, E. T., Vossough, A., Frosch, M. P., … Schmahmann, J. D. (2009). Adult onset leukodystrophy with neuroaxonal spheroids: Clinical, neuroimaging and neuropathologic observations. Brain Pathology (Zurich, Switzerland), 19, 39–47.
  • Gore, E., Manley, A., Dees, D., Appleby, B. S., & Lerner, A. J. (2016). A young-onset frontal dementia with dramatic calcifications due to a novel CSF1R mutation. Neurocase, 22, 257–262.
  • Graff-Radford, J., Murray, M. E., Lowe, V. J., Boeve, B. F., Ferman, T. J., Przybelski, S. A., … Kantarci, K. (2014). Dementia with Lewy bodies: Basis of cingulate island sign. Neurology, 83, 801–809.
  • Guella, I., Evans, D. M., Szu-Tu, C., Nosova, E., Bortnick, S. F., Group, S. C. S., … Farrer, M. J. (2016). alpha-synuclein genetic variability: A biomarker for dementia in Parkinson disease. Annals of Neurology, 79, 991–999.
  • Guerreiro, R., Escott-Price, V., Darwent, L., Parkkinen, L., Ansorge, O., Hernandez, D. G., … Bras, J. (2016). Genome-wide analysis of genetic correlation in dementia with Lewy bodies, Parkinson‘s and Alzheimer‘s diseases. Neurobiology of Aging, 38, 214 e7–214 e10.
  • Guerreiro, R., Kara, E., Le Ber, I., Bras, J., Rohrer, J. D., Taipa, R., … Houlden, H. (2013). Genetic analysis of inherited leukodystrophies: Genotype-phenotype correlations in the CSF1R gene. JAMA Neurology, 70, 875–882.
  • Inui, T., Kawarai, T., Fujita, K., Kawamura, K., Mitsui, T., Orlacchio, A., … Kaji, R. (2013). A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis. Journal of the Neurological Sciences, 334, 192–195.
  • Kokmen, E., Smith, G. E., Petersen, R. C., Tangalos, E., & Ivnik, R. C. (1991). The short test of mental status. Correlations with standardized psychometric testing. Archives of Neurology, 48, 725–728.
  • Kondo, Y., Kinoshita, M., Fukushima, K., Yoshida, K., & Ikeda, S. (2013). Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R. Internal medicine (Tokyo, Japan), 52, 503–506.
  • Konno, T., Broderick, D. F., & Wszolek, Z. K. (2017a). Brain calcification in a CSF1R mutation carrier precedes white matter degeneration. Movement Disorders : Official Journal of the Movement Disorder Society, 32, 1493–1495.
  • Konno, T., Yoshida, K., Mizuno, T., Kawarai, T., Tada, M., Nozaki, H., … Ikeuchi, T. (2017b). Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies, 24, 37–45.
  • Konno, T., Yoshida, K., Mizuta, I., Mizuno, T., Kawarai, T., Tada, M., … Ikeuchi, T. (2018). Diagnostic criteria for adult-onset leukoencephalopathy with axonal spheroids and pigmented glia due to CSF1R mutation. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies, 25, 142–147.
  • Kortvelyessy, P., Krageloh-Mann, I., Mawrin, C., Heinze, H. J., Bittner, D., Wieland, I., … Nestor, P. (2015). Hereditary diffuse leukoencephalopathy with spheroids (HDLS) with a novel CSF1R mutation and spinal cord involvement. Journal of the Neurological Sciences, 358, 515–517.
  • Lee, D., Yun, J. Y., Jeong, J. H., Yoshida, K., Nagasaki, S., & Ahn, T. B. (2015). Clinical evolution, neuroimaging, and volumetric analysis of a patient with a CSF1R mutation who presented with progressive nonfluent aphasia. Parkinsonism & Related Disorders, 21, 817–820.
  • Lim, S. M., Katsifis, A., Villemagne, V. L., Best, R., Jones, G., Saling, M., … Rowe, C. C. (2009). The 18F-FDG PET cingulate island sign and comparison to 123I-beta-CIT SPECT for diagnosis of dementia with Lewy bodies. Journal of Nuclear Medicine : Official Publication, Society of Nuclear Medicine, 50, 1638–1645.
  • Lynch, D. S., Jaunmuktane, Z., Sheerin, U. M., Phadke, R., Brandner, S., Milonas, I., … Houlden, H. (2016). Hereditary leukoencephalopathy with axonal spheroids: A spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series. Journal of Neurology, Neurosurgery, and Psychiatry, 87, 512–519.
  • McKeith, I. G., Boeve, B. F., Dickson, D. W., Halliday, G., Taylor, J. P., Weintraub, D., … Kosaka, K. (2017). Diagnosis and management of dementia with Lewy bodies: Fourth consensus report of the DLB Consortium. Neurology, 89, 88–100.
  • Mitsui, J., Matsukawa, T., Ishiura, H., Higasa, K., Yoshimura, J., Saito, T. L., … Ahsan, B. (2012). CSF1R mutations identified in three families with autosomal dominantly inherited leukoencephalopathy. American Journal of Medical Genetics, 159B, 951–957.
  • 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.
  • Peuralinna, T., Myllykangas, L., Oinas, M., Nalls, M. A., Keage, H. A., Isoviita, V. M., … Tienari, P. J. (2015). Genome-wide association study of neocortical Lewy-related pathology. Annals of Clinical and Translational Neurology, 2, 920–931.
  • Prieto-Morin, C., Ayrignac, X., Ellie, E., Tournier-Lasserve, E., & Labauge, P. (2016). CSF1R-related leukoencephalopathy mimicking primary progressive multiple sclerosis. Journal of Neurology, 263, 1864–1865.
  • Rademakers, R., Baker, M., Nicholson, A. M., Rutherford, N. J., Finch, N., Soto-Ortolaza, A., … Wszolek, Z. K. (2011). Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nature Genetics, 44, 200–205.
  • Sadovnick, A. D., Traboulsee, A. L., Lee, J. D., Ross, J. P., Bernales, C. Q., & Vilarino-Guell, C. (2013). Colony stimulation factor 1 receptor (CSF1R) is not a common cause of multiple sclerosis. European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies, 20, e115–e116.
  • Saitoh, B. Y., Yamasaki, R., Hayashi, S., Yoshimura, S., Tateishi, T., Ohyagi, Y., … Kira, J. (2013). A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis. Multiple sclerosis (Houndmills, Basingstoke, England), 19, 1367–1370.
  • Sassi, C., Nalls, M. A., Ridge, P. G., Gibbs, J. R., Lupton, M. K., Troakes, C., … Hardy, J. (2018). Mendelian adult-onset leukodystrophy genes in Alzheimer‘s disease: Critical influence of CSF1R and NOTCH3. Neurobiology of Aging, 66, 179 e17–179 e29.
  • Shu, Y., Long, L., Liao, S., Yang, J., Li, J., Qiu, W., … Lu, Z. (2016). Involvement of the optic nerve in mutated CSF1R-induced hereditary diffuse leukoencephalopathy with axonal spheroids. BMC Neurology, 16, 171.
  • 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.
  • Sundal, C., Van Gerpen, J. A., Nicholson, A. M., Wider, C., Shuster, E. A., Aasly, J., … Wszolek, Z. K. (2012). MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology, 79, 566–574.
  • Sundal, C., & Wszolek, Z. K. (1993–2018). CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. In M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. Stephens, & A. Amemiya (Eds.), GeneReviews((R)). Seattle (WA). https://www.ncbi.nlm.nih.gov/books/NBK100239/
  • Swerdlow, R. H., Miller, B. B., Lopes, M. B., Mandell, J. W., Wooten, G. F., Damgaard, P., & Brashear, H. R. (2009). Autosomal dominant subcortical gliosis presenting as frontotemporal dementia. Neurology, 72, 260–267.
  • Van Gerpen, J. A., Wider, C., Broderick, D. F., Dickson, D. W., Brown, L. A., & Wszolek, Z. K. (2008). Insights into the dynamics of hereditary diffuse leukoencephalopathy with axonal spheroids. Neurology, 71, 925–929.
  • Wider, C., Van Gerpen, J. A., DeArmond, S., Shuster, E. A., Dickson, D. W., & Wszolek, Z. K. (2009). Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): A single entity? Neurology, 72, 1953–1959.

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