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KMID : 0359720190370040408
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Journal of the Korean Neurological Association
2019 Volume.37 No. 4 p.408 ~ p.413
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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) with Novel CSF1R Mutation
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Jeon Seok-Hwi
Chung Eun-Joo
Oh Seung-Tae
Ahn Jung-Woo
Kim Sang-Jin
Kim Jong-Sung
Oh Seong-Il
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Abstract
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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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KEYWORD
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Leukoencephalopathy, CSF1R gene, Diffusion weighted image
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