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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia by a novel mutation of the CSF1R gene

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Abstract

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare autosomal dominant disorder caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. As of 2022, more than 100 different CSF1R mutations were reported in patients with CSF1R-related leukoencephalopathy. In this case report, we describe ALSP in a previously healthy 46-year-old woman who presented with memory impairment, poor interpersonal behavior, and decreased verbal fluency. Brain magnetic resonance imaging (MRI) showed confluent white matter changes and atrophy of the corpus callosum. Whole-exome sequencing identified a novel splice-site mutation (C.1858 + 5G > A) in intron 13 of the CSF1R gene, resulting in an intron 12 retention and an exon 13 deletion of CSF1R mRNA.

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Acknowledgements

The authors thank the patient for participating in this study.

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Author notes

  1. Cong Ding and Li Zhao contributed equally to this work.

Authors and Affiliations

  1. Department of Neurology, the First Affiliated Hospital, Dalian Medical University, No. 222 Zhongshan Road, Dalian, 116011, China

    Cong Ding, Li Zhao, Yu Zhan, Jiahao Li, Rujia Zhong & Chunbo Dong

  2. First Department of Medicine, Faculty of Medicine, University Medical Centre Mannheim (UMM), University of Heidelberg, Mannheim, Germany

    Rujia Zhong

  3. Department of Radiology, the First Affiliated Hospital, Dalian Medical University, Dalian, 116011, China

    Qingwei Song

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  1. Cong Ding
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  2. Li Zhao
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  3. Yu Zhan
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Correspondence to Chunbo Dong.

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Ding, C., Zhao, L., Zhan, Y. et al. Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia by a novel mutation of the CSF1R gene. Neurol Sci 43, 6433–6440 (2022). https://doi.org/10.1007/s10072-022-06328-w

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  • DOI: https://doi.org/10.1007/s10072-022-06328-w

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