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

  • Qin Du
  • Hongxi Chen
  • Ziyan Shi
  • Ying Zhang
  • Jiancheng Wang
  • Hongyu ZhouEmail author
Letter to the Editor

Dear Editor,

Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS; OMIM 221820) is a rare autosomal dominant disease that is neuropathologically characterized by the widespread loss of myelin sheaths and axons and the presence of axonal spheroids, gliosis and lipid-laden, pigmented macrophages [ 1]. HDLS is caused by mutations in the colony-stimulating factor 1 receptor ( CSF1R) gene on chromosome 5q34 [ 2, 3]. Typical clinical manifestations include a variable combination of personality and behavioral changes, cognitive impairment, unsteady gait, parkinsonism, and seizures. Onset commonly occurs in the fourth to fifth decade of life [ 4]. Brain magnetic resonance imaging (MRI) shows nonspecific leukoencephalopathy, mainly involving the subcortical white matter of the frontal and parietal lobes, with concomitantly progressive cortical atrophy [ 5]. In this study, we report a novel heterozygous frameshift mutation, c.2645delC (p. P882PfsX70), in an exon of the CSF1Rgene in a...



This work was supported by the Sichuan Science and Technology Program (No. 2018SZ0388) and by “the Fundamental Research Funds for the Central Universities (NO. 2017SCU11049)”.

Compliance with ethical standards

Conflict of interest

The authors declare that there are no conflicts of interest.


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Copyright information

© Fondazione Società Italiana di Neurologia 2019

Authors and Affiliations

  1. 1.Department of Neurology, West China HospitalSichuan UniversityChengduChina

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