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Review
. 2013 Oct;260(10):2665-8.
doi: 10.1007/s00415-013-7093-x. Epub 2013 Sep 14.

An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications: a case report and a literature review of brain calcifications disorders

Shinsuke Fujioka  1 , Daniel F Broderick, Christina Sundal, Matthew C Baker, Rosa Rademakers, Zbigniew K Wszolek
Affiliations
Review

An adult-onset leukoencephalopathy with axonal spheroids and pigmented glia accompanied by brain calcifications: a case report and a literature review of brain calcifications disorders

Shinsuke Fujioka et al. J Neurol. 2013 Oct.
No abstract available

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Conflict of interest statement

Conflict of interest

SF, DFB, and MCB have no conflict of interest. CS is supported by Anna Lisa och Bror Björnsson foundation for neurological research 2013/2014. RR is supported by NIH/NINDS P50 NS072187. ZKW is partially supported by the NIH/NINDS P50 NS072187, Mayo Clinic Center for Regenerative Medicine, and the gift from Carl Edward Bolch, Jr., and Susan Bass Bolch.

Figures

Figure 1
Figure 1
Brain computed tomography (CT) images at age 52 (A–C), brain CT images at age 53 (D–F), and a pedigree of the CSF1R p.G589E (G). This family was previously described [1], and additional genealogical details are provided in this manuscript. Brain axial CT at age 52 shows lateral ventricle enlargement and calcification in the deep left frontal white matter (A) and the subcortical whiter matter of the bilateral parietal lobes (B, C). No significant changes are seen on brain axial CT at age 53 (D–F). An arrowhead indicates the proband. Squares represent males, circles represent females. Darkened symbols indicate affected individuals. A diagonal line through a symbol means deceased. A number indicates number of offspring. A hash sign indicates an autopsied case. To protect patient confidentiality, gender is portrayed using a diamond for all individuals except affected individuals and their spouses. A number in a square indicates a number of family members. A plus sign indicates that DNA was examined for the CSF1R sequencing analysis.
See this image and copyright information in PMC

References

    1. Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet. 2012;44:200–5. - PMC - PubMed
    1. Nicholson AM, Baker MC, Finch NA, Rutherford NJ, Wider C, Graff-Radford NR, et al. CSF1R mutations link POLD and HDLS as a single disease entity. Neurology. 2013;80:1033–40. - PMC - PubMed
    1. Sundal C, Fujioka S, Van Gerpen JA, Wider C, Nicholson AM, Baker M, et al. Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. Parkinsonism Relat Disord. 2013 - PMC - PubMed
    1. Sundal C, Lash J, Aasly J, Oygarden S, Roeber S, Kretzschman H, et al. Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): a misdiagnosed disease entity. J Neurol Sci. 2012;314:130–7. - PMC - PubMed
    1. Mascalchi M, Gavazzi C, Morbin M, Giaccone G, Arnetoli G, Zappoli R, et al. CT and MR imaging of neuroaxonal leukodystrophy presenting as early-onset frontal dementia. AJNR Am J Neuroradiol. 2006;27:1037–9. - PMC - PubMed

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