A novel dominant-negative mutation of the CSF1R gene causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia.

ABSTRACT: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP) is a rare autosomal dominant disorder that is caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. Functional haplo-insufficiency of the CSF1R gene has been considered for the underlying genetic mechanisms. A novel mutation of CSF1R and its effects on CSF1R expression or clinical characteristics were explored in an ALSP family. Clinical data and imaging data were collected from the family members with ALSP. Peripheral blood samples were collected for DNA and RNA extraction. Whole-exome sequencing and quantitative PCR were used to identify mutations and to determine the expression of CSF1R. The family had a history of a dominant hereditary pattern. Patients in this family presented motor

SUBMITTER: Leng C 

PROVIDER: S-EPMC6789214 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature