J Korean Neurol Assoc.
2019 Nov;37(4):408-413. 10.17340/jkna.2019.4.15.
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) with Novel CSF1R Mutation
- Affiliations
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- 1Department of Neurology, Busan Paik Hospital, Inje University College of Medicine, Busan, Korea. seongil.oh@gmail.com
- 2Dementia and Neurodegenerative Disease Research Center, Inje University, Busan, Korea.
- 3Department of Neurology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
- 4Neuroimmunology Research Group, Busan Paik Hospital, Inje University College of Medicine, Busan, Korea.
- KMID: 2464150
- DOI: http://doi.org/10.17340/jkna.2019.4.15
Abstract
- Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a subtype of dominantly inherited leukoencephalopathies caused by novel CSF1R gene mutation predominantly affecting the cerebral white matter. High signal lesions on diffusion weighted image (DWI) are characteristic. Herein, we describe a patent with ALSP with a novel mutation. The patient had persistent DWI lesions, worsening white matter changes associated with rapidly progressive clinical symptoms.
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