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
  • 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.

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.

Keyword

Leukoencephalopathy; CSF1R gene; Diffusion weighted image

MeSH Terms

Axons*
Diffusion
Humans
Leukoencephalopathies*
Neuroglia*
White Matter
Full Text Links
  • JKNA
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr