Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

References

1. 1.↵
   2. Marotti JD,
   3. Tobias S,
   4. Fratkin JD, et al

   . Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature. Acta Neuropathol 2004;107:481–88 doi:10.1007/s00401-004-0847-x pmid:15067553

   CrossRefPubMed
2. 2.↵
   2. Wider C,
   3. Van Gerpen JA,
   4. DeArmond S, et al

   . Leukoencephalopathy with spheroids (HDLS) and pigmentary leukodystrophy (POLD): a single entity? Neurology 2009;72:1953–59 doi:10.1212/WNL.0b013e3181a826c0 pmid:19487654

   Abstract/FREE Full Text
3. 3.↵
   2. Rademakers R,
   3. Baker M,
   4. Nicholson AM, et al

   . Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 2012;44:200–05 doi:10.1038/ng.1027 pmid:22197934

   CrossRefPubMed
4. 4.↵
   2. Nicholson AM,
   3. Baker MC,
   4. Finch NA, et al

   . CSF1R mutations link POLD and HDLS as a single disease entity. Neurology 2013;80:1033–40 doi:10.1212/WNL.0b013e31828726a7 pmid:23408870

   Abstract/FREE Full Text
5. 5.↵
   2. Konno T,
   3. Tada M,
   4. Tada M, et al

   . Haploinsufficiency of CSF-1R and clinicopathologic characterization in patients with HDLS. Neurology 2014;82:139–48 doi:10.1212/WNL.0000000000000046 pmid:24336230

   Abstract/FREE Full Text
6. 6.↵
   2. Sundal C,
   3. Fujioka S,
   4. Van Gerpen JA, et al

   . Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations. Parkinsonism Relat Disord 2013;19:869–77 doi:10.1016/j.parkreldis.2013.05.013 pmid:23787135

   CrossRefPubMed
7. 7.↵
   2. Saitoh BY,
   3. Yamasaki R,
   4. Hayashi S, et al

   . A case of hereditary diffuse leukoencephalopathy with axonal spheroids caused by a de novo mutation in CSF1R masquerading as primary progressive multiple sclerosis. Mult Scler 2013;19:1367–70 doi:10.1177/1352458513489854 pmid:23698128

   Abstract/FREE Full Text
8. 8.↵
   2. Granberg T,
   3. Hashim F,
   4. Andersen O, et al

   . Hereditary diffuse leukoencephalopathy with spheroids: a volumetric and radiological comparison with multiple sclerosis patients and healthy controls. Eur J Neurol 2016;23:817–22 doi:10.1111/ene.12948 pmid:26756564

   CrossRefPubMed
9. 9.↵
   2. Sundal C,
   3. Van Gerpen JA,
   4. Nicholson AM, et al

   . MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology 2012;79:566–74 doi:10.1212/WNL.0b013e318263575a pmid:22843259

   Abstract/FREE Full Text
10. 10.↵
    2. Mateen FJ,
    3. Keegan BM,
    4. Krecke K, et al

    . Sporadic leucodystrophy with neuroaxonal spheroids: persistence of DWI changes and neurocognitive profiles: a case study. J Neurol Neurosurg Psychiatry 2010;81:619–22 doi:10.1136/jnnp.2008.169243 pmid:20176606

    Abstract/FREE Full Text
11. 11.↵
    2. Bender B,
    3. Klose U,
    4. Lindig T, et al

    . Imaging features in conventional MRI, spectroscopy and diffusion weighted images of hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). J Neurol 2014;261:2351–59 doi:10.1007/s00415-014-7509-2 pmid:25239393

    CrossRefPubMed
12. 12.↵
    2. Fujioka S,
    3. Broderick DF,
    4. Sundal C, et al

    . 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. J Neurol 2013;260:2665–68 doi:10.1007/s00415-013-7093-x pmid:24036850

    CrossRefPubMed
13. 13.↵
    2. Klünemann HH,
    3. Ridha BH,
    4. Magy L, et al

    . The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2. Neurology 2005;64:1502–07 doi:10.1212/01.WNL.0000160304.00003.CA pmid:15883308

    Abstract/FREE Full Text
14. 14.↵
    2. Baba Y,
    3. Broderick DF,
    4. Uitti RJ, et al

    . Heredofamilial brain calcinosis syndrome. Mayo Clin Proc 2005;80:641–51 doi:10.4065/80.5.641 pmid:15887432

    CrossRefPubMedWeb of Science
15. 15.↵
    2. Linnankivi T,
    3. Valanne L,
    4. Paetau A, et al

    . Cerebroretinal microangiopathy with calcifications and cysts. Neurology 2006;67:1437–43 doi:10.1212/01.wnl.0000236999.63933.b0 pmid:16943371

    Abstract/FREE Full Text
16. 16.↵
    2. Miklossy J,
    3. Mackenzie IR,
    4. Dorovini-Zis K, et al

    . Severe vascular disturbance in a case of familial brain calcinosis. Acta Neuropathol 2005;109:643–53 doi:10.1007/s00401-005-1007-7 pmid:15937691

    CrossRefPubMed
17. 17.↵
    2. Saijo K,
    3. Glass CK

    . Microglial cell origin and phenotypes in health and disease. Nat Rev Immunol 2011;11:775–87 doi:10.1038/nri3086 pmid:22025055

    CrossRefPubMed
18. 18.↵
    2. Judas M,
    3. Rados M,
    4. Jovanov-Milosevic N, et al

    . Structural, immunocytochemical, and MR imaging properties of periventricular crossroads of growing cortical pathways in preterm infants. AJNR Am J Neuroradiol 2005;26:2671–84 pmid:16286422

    Abstract/FREE Full Text
19. 19.↵
    2. Monier A,
    3. Adle-Biassette H,
    4. Delezoide AL, et al

    . Entry and distribution of microglial cells in human embryonic and fetal cerebral cortex. J Neuropathol Exp Neurol 2007;66:372–82 doi:10.1097/nen.0b013e3180517b46 pmid:17483694

    Abstract/FREE Full Text
20. 20.↵
    2. Karle KN,
    3. Biskup S,
    4. Schüle R, et al

    . De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). Neurology 2013;81:2039–44 doi:10.1212/01.wnl.0000436945.01023.ac pmid:24198292

    Abstract/FREE Full Text
21. 21.↵
    2. La Piana R,
    3. Webber A,
    4. Guiot MC, et al

    . A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids. Neurogenetics 2014;15:289–94 doi:10.1007/s10048-014-0413-1 pmid:25012610

    CrossRefPubMed