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Neurological Sciences

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01-06-2019 | Cranial MRI | Letter to the Editor

A novel mutation in the CSF1R gene causes hereditary diffuse leukoencephalopathy with axonal spheroids

Authors: Qin Du, Hongxi Chen, Ziyan Shi, Ying Zhang, Jiancheng Wang, Hongyu Zhou

Published in: Neurological Sciences | Issue 6/2019

Excerpt

Dear Editor, …

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 19(1):39–47. https://doi.org/10.1111/j.1750-3639.2008.00163.x CrossRefPubMed

Stabile C, Taglia I, Battisti C, Bianchi S, Federico A (2016) Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS): update on molecular genetics. Neurol Sci 37(9):1565–1569. https://doi.org/10.1007/s10072-016-2634-6 CrossRefPubMed

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 CrossRefPubMedPubMedCentral

Di Donato I, Stabile C, Bianchi S, Taglia I, Mignarri A, Salvatore S, Giorgio E, Brusco A, Simone I, Dotti MT, Federico A (2015) A novel CSF1R mutation in a patient with clinical and neuroradiological features of hereditary diffuse leukoencephalopathy with axonal spheroids. J Alzheimers Dis 47(2):319–322. https://doi.org/10.3233/JAD-150097 CrossRefPubMed

Sundal C, Van Gerpen JA, Nicholson AM, Wider C, Shuster EA, Aasly J, Spina S, Ghetti B, Roeber S, Garbern J (2012) MRI characteristics and scoring in HDLS due to CSF1R gene mutations. Neurology 79(6):566–574CrossRefPubMedPubMedCentral

Pridans C, Sauter KA, Baer K, Kissel H, Hume DA (2013) CSF1R mutations in hereditary diffuse leukoencephalopathy with spheroids are loss of function. Sci Rep 3:3013. https://doi.org/10.1038/srep03013 CrossRefPubMedPubMedCentral

Lynch DS, Jaunmuktane Z, Sheerin UM, Phadke R, Brandner S, Milonas I, Dean A, Bajaj N, McNicholas N, Costello D, Cronin S, McGuigan C, Rossor M, Fox N, Murphy E, Chataway J, Houlden H (2016) Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series. J Neurol Neurosurg Psychiatry 87(5):512–519. https://doi.org/10.1136/jnnp-2015-310788 CrossRefPubMed

Karle KN, Saskia B, Rebecca S, Schweitzer KJ, Rejko K, Peter B, Benjamin B, Thomas NG, Ludger SL (2013) De novo mutations in hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS). Neurology 81(23):2039–2044CrossRefPubMed

Title: A novel mutation in the CSF1R gene causes hereditary diffuse leukoencephalopathy with axonal spheroids
Authors: Qin Du
Hongxi Chen
Ziyan Shi
Ying Zhang
Jiancheng Wang
Hongyu Zhou
Publication date: 01-06-2019
Publisher: Springer International Publishing
Keywords: Cranial MRI
Dysarthria
Published in: Neurological Sciences / Issue 6/2019
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-018-3693-7

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