Partial loss of function of colony-stimulating factor 1 receptor in a patient with white matter abnormalities.

ABSTRACT:

Background and purpose

Mutations in colony-stimulating factor 1 receptor (CSF1R) cause adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). Patients with ALSP can be misdiagnosed as having acute ischemic stroke due to hyperintensity lesions on diffusion-weighted magnetic resonance imaging. Mutant CSF1R proteins identified in ALSP show a complete loss of autophosphorylation of CSF1R.

Methods

We conducted mutation screening of CSF1R in 123 patients with definite acute ischemic cerebrovascular syndrome and positive family history of stroke. The pathogenicity of identified variants was evaluated using functional analyses. The levels of autophosphorylation of CSF1R in response to treatment with ligands of CSF1R were examined in cells transfected with w

SUBMITTER: Konno T 

PROVIDER: S-EPMC5951747 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature