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Early-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison of ALSP and PLOSL/Nasu Hakola disease

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Abstract

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, and Nasu Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy are both underrecognized progressive degenerative white matter diseases that can present with young dementia, leukoencephalopathy and brain calcifications. We report and compare three cases in terms of clinical phenotype, imaging and neuropathological findings. Both cases have led to the identification of two novel causal mutations.

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Acknowledgements

Sequencing of the CSF1R gene in the first case was performed by the group of Rosa Rademakers (Mayoclinic, USA). Sequencing of the TREM2 gene in our cases was performed by the lab of Leena 19 Peltonen (Department of Molecular Medicine, National Public Health Institute, Biomedicum, Helsinki, Finland).

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Authors and Affiliations

  1. Department of Neurology, Ghent University Hospital, Ghent, Belgium

    C. Coomans, A. Sieben, D. Van Melkebeke & D. Hemelsoet

  2. Institute Born-Bunge, Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium

    A. Sieben, M. Lammens & C. Ceuterick-de Groote

  3. Department of Pathology, Ghent University Hospital, Ghent, Belgium

    M. Lammens & C. Vandenbroecke

  4. Department of Pathology, Antwerp University Hospital, Antwerp, Belgium

    M. Lammens

  5. Department of Nuclear Medicine, Ghent University Hospital, Ghent, Belgium

    I. Goethals

Authors
  1. C. Coomans
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  2. A. Sieben
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  3. M. Lammens
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  4. C. Ceuterick-de Groote
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  5. C. Vandenbroecke
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  6. I. Goethals
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  7. D. Van Melkebeke
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  8. D. Hemelsoet
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Correspondence to C. Coomans.

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All authors declare they have no conflict of interest.

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Because no informed consent for publication could be obtained from the patients because they already passed away, an ethical approval for publication was obtained from the ethical committee.

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Coomans, C., Sieben, A., Lammens, M. et al. Early-onset dementia, leukoencephalopathy and brain calcifications: a clinical, imaging and pathological comparison of ALSP and PLOSL/Nasu Hakola disease. Acta Neurol Belg 118, 607–615 (2018). https://doi.org/10.1007/s13760-018-1023-8

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  • DOI: https://doi.org/10.1007/s13760-018-1023-8

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