Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) with Novel CSF1R Mutation
- Author:
Seok Hwi JEON
1
;
Eun Joo CHUNG
;
Seung Tae OH
;
Jung Woo AHN
;
Sang Jin KIM
;
Jong S KIM
;
Seong il OH
Author Information
- Publication Type:Case Report
- Keywords: Leukoencephalopathy; CSF1R gene; Diffusion weighted image
- MeSH: Axons; Diffusion; Humans; Leukoencephalopathies; Neuroglia; White Matter
- From:Journal of the Korean Neurological Association 2019;37(4):408-413
- CountryRepublic of Korea
- Language:Korean
- 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.
