Article
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia by a novel mutation of the CSF1R gene.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Nov 2022
Ding Cong, Zhao Li, Zhan Yu, Li Jiahao, Zhong Rujia, Song Qingwei, Dong Chunbo
Abstract excerpt
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...
Topics
- Female
- Humans
- Middle Aged
- Brain
- Leukoencephalopathies
- Magnetic Resonance Imaging
- Mutation
- Neuroglia
- Age of Onset