Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy.

ABSTRACT:

Background

CSF1R-related leukoencephalopathy, also known as hereditary diffuse leukoencephalopathy with spheroids (HDLS), is a rare white-matter encephalopathy characterized by motor and neuropsychiatric symptoms due to colony-stimulating factor 1 receptor (CSF1R) gene mutation. Few of CSF1R mutations have been functionally testified and the pathogenesis remains unknown.

Methods

In order to investigate clinical and pathological characteristics of patients with CSF1R-related leukoencephalopathy and explore the potential impact of CSF1R mutations, we analyzed clinical manifestations of 15 patients from 10 unrelated families and performed brain biopsy in 2 cases. Next generation sequencing was conducted for 10 probands to confirm the diagnosis

SUBMITTER: Tian WT 

PROVIDER: S-EPMC6886209 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature