Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases

References

1. 1.↵
   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 2011;44:200–05 doi:10.1038/ng.1027 pmid:22197934

   CrossRefPubMed
2. 2.↵
   2. Konno T,
   3. Yoshida K,
   4. Mizuno T, et al

   . Clinical and genetic characterization of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia associated with CSF1R mutation. Eur J Neurol 2017;24:37–45 doi:10.1111/ene.13125 pmid:27680516

   CrossRefPubMed
3. 3.↵
   2. Guerreiro R,
   3. Kara E,
   4. Le Ber I, et al

   . Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. JAMA Neurol 2013;70:875–82 doi:10.1001/jamaneurol.2013.698 pmid:23649896

   CrossRefPubMedWeb of Science
4. 4.↵
   2. Prieto-Morin C,
   3. Ayrignac X,
   4. Ellie E, et al

   . CSF1R-related leukoencephalopathy mimicking primary progressive multiple sclerosis. J Neurol 2016;263:1864–65 doi:10.1007/s00415-016-8197-x pmid:27314966

   CrossRefPubMed
5. 5.↵
   2. Lynch DS,
   3. Jaunmuktane Z,
   4. Sheerin UM, et al

   . Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series. J Neurol Neurosurg Psychiatry 2016;87:512–19 doi:10.1136/jnnp-2015-310788 pmid:25935893

   Abstract/FREE Full Text
6. 6.↵
   2. Konno T,
   3. Broderick DF,
   4. Mezaki N, et al

   . Diagnostic value of brain calcifications in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. AJNR Am J Neuroradiol 2017;38:77–83 doi:10.3174/ajnr.A4938 pmid:27633805

   Abstract/FREE Full Text
7. 7.↵
   2. Lakshmanan R,
   3. Adams ME,
   4. Lynch DS, et al

   . Redefining the phenotype of ALSP and AARS2 mutation-related leukodystrophy. Neurol Genet 2017;3:e135 doi:10.1212/NXG.0000000000000135 pmid:28243630

   Abstract/FREE Full Text
8. 8.↵
   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
9. 9.↵
   2. Letournel F,
   3. Etcharry-Bouyx F,
   4. Verny C, et al

   . Two clinicopathological cases of a dominantly inherited, adult onset orthochromatic leucodystrophy. J Neurol Neurosurg Psychiatry 2003;74:671–73 doi:10.1136/jnnp.74.5.671 pmid:12700318

   Abstract/FREE Full Text
10. 10.↵
    2. Labauge P,
    3. Berger E,
    4. Magnin E, et al

    . A new form of leukoencephalopathy with calcifications and cysts with nonrecessive inheritance and absence of gadolinium enhancement. Eur Neurol 2012;67:151–53 doi:10.1159/000331937 pmid:22261615

    CrossRefPubMed
11. 11.↵
    2. van der Knaap MS,
    3. Naidu S,
    4. Kleinschmidt-Demasters BK, et al

    . Autosomal dominant diffuse leukoencephalopathy with neuroaxonal spheroids. Neurology 2000;54:463–68 doi:10.1212/WNL.54.2.463 pmid:10668715

    Abstract/FREE Full Text
12. 12.↵
    2. Caroppo P,
    3. Le Ber I,
    4. Camuzat A, et al

    . Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin. JAMA Neurol 2014;71:1562–66 doi:10.1001/jamaneurol.2014.1316 pmid:25317628

    CrossRefPubMed
13. 13.↵
    2. Sundal C,
    3. Baker M,
    4. Karrenbauer V, et al

    . Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis. Eur J Neurol 2015;22:328–33 doi:10.1111/ene.12572 pmid:25311247

    CrossRefPubMed
14. 14.↵
    2. Battisti C,
    3. Di Donato I,
    4. Bianchi S, et al

    . Hereditary diffuse leukoencephalopathy with axonal spheroids: three patients with stroke-like presentation carrying new mutations in the CSF1R gene. J Neurol 2014;261:768–72 doi:10.1007/s00415-014-7257-3 pmid:24532199

    CrossRefPubMed
15. 15.↵
    2. Stam AH,
    3. Kothari PH,
    4. Shaikh A, et al

    . Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations. Brain 2016;139:2909–22 doi:10.1093/brain/aww217 pmid:27604306

    CrossRefPubMed
16. 16.↵
    2. Wang M,
    3. Zhang M,
    4. Wu L, et al

    . Leukoencephalopathy with cerebral calcification and cysts: cases report and literature review. J Neurol Sci 2016;370:173–79 doi:10.1016/j.jns.2016.09.048 pmid:27772754

    CrossRefPubMed
17. 17.↵
    2. Terasawa Y,
    3. Osaki Y,
    4. Kawarai T, et al

    . Increasing and persistent DWI changes in a patient with hereditary diffuse leukoencephalopathy with spheroids. J Neurol Sci 2013;335:213–15 doi:10.1016/j.jns.2013.08.027 pmid:24094860

    CrossRefPubMed
18. 18.↵
    2. Ayrignac X,
    3. Nicolas G,
    4. Carra-Dallière C, et al

    . Brain calcifications in adult-onset genetic leukoencephalopathies: a review. JAMA Neurol 2017;74:1000–08 doi:10.1001/jamaneurol.2017.1062 pmid:28628708

    CrossRefPubMed
19. 19.↵
    2. Kondo Y,
    3. Kinoshita M,
    4. Fukushima K, et al

    . Early involvement of the corpus callosum in a patient with hereditary diffuse leukoencephalopathy with spheroids carrying the de novo K793T mutation of CSF1R. Intern Med 2013;52:503–06 doi:10.2169/internalmedicine.52.8879 pmid:23411710

    CrossRefPubMed
20. 20.↵
    2. Ayrignac X,
    3. Carra-Dalliere C,
    4. Menjot de Champfleur N, et al

    . Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients. Brain 2015;138(Pt 2):284–92 doi:10.1093/brain/awu353 pmid:25527826

    CrossRefPubMed
21. 21.↵
    2. Eichler FS,
    3. Li J,
    4. Guo Y, et al

    . CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. Brain 2016;139:1666–72 doi:10.1093/brain/aww066 pmid:27190017

    CrossRefPubMed