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A novel mutation in CSF1R associated with hereditary diffuse leukoencephalopathy with spheroids

  • Published:2021-05-04 Issue:1 Volume:43 Page:411-417
  • ISSN:1590-1874
  • Container-title:Neurological Sciences
  • language:en
  • Short-container-title:Neurol Sci

Author:

Du Qin,Wang Minjin,Zhou HongyuORCID

Funder

the National Key R&D Program of China

the Department of Science and Technology of Sichuan Province

Publisher

Springer Science and Business Media LLC

Subject

Psychiatry and Mental health,Neurology (clinical),Dermatology,General Medicine

Reference20 articles.

1. Eichler FS, Li J, Guo Y, Caruso PA, Bjonnes AC, Pan J, Booker JK, Lane JM, Tare A, Vlasac I, Hakonarson H, Gusella JF, Zhang J, Keating BJ, Saxena R (2016) CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids. Brain 139(Pt 6):1666–1672. https://doi.org/10.1093/brain/aww066

2. Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS (2014) Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology 82(23):2063–2071. https://doi.org/10.1212/wnl.0000000000000497

3. Freeman SH, Hyman BT, Sims KB, Hedley-Whyte ET, Vossough A, Frosch MP, Schmahmann JD (2009) Adult onset leukodystrophy with neuroaxonal spheroids: clinical, neuroimaging and neuropathologic observations. Brain Pathol (Zurich, Switzerland) 19(1):39–47. https://doi.org/10.1111/j.1750-3639.2008.00163.x

4. Marotti JD, Tobias S, Fratkin JD, Powers JM, Rhodes CH (2004) Adult onset leukodystrophy with neuroaxonal spheroids and pigmented glia: report of a family, historical perspective, and review of the literature. Acta Neuropathol 107(6):481–488. https://doi.org/10.1007/s00401-004-0847-x

5. Rademakers R, Baker M, Nicholson AM, Rutherford NJ, Finch N, Soto-Ortolaza A, Lash J, Wider C, Wojtas A, DeJesus-Hernandez M, Adamson J, Kouri N, Sundal C, Shuster EA, Aasly J, MacKenzie J, Roeber S, Kretzschmar HA, Boeve BF, Knopman DS, Petersen RC, Cairns NJ, Ghetti B, Spina S, Garbern J, Tselis AC, Uitti R, Das P, Van Gerpen JA, Meschia JF, Levy S, Broderick DF, Graff-Radford N, Ross OA, Miller BB, Swerdlow RH, Dickson DW, Wszolek ZK (2011) Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nat Genet 44(2):200–205. https://doi.org/10.1038/ng.1027

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