A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature.

ABSTRACT:

Background

Primary familial brain calcification is a rare autosomal dominant or recessive neurodegenerative disease, characterized by bilateral brain calcifications in different areas of the brain. It is a clinically heterogeneous disease and patients are reported to exhibit a wide spectrum of neurological and psychiatric symptoms. Mutations in five genes have been identified so far including SLC20A2, PDGFRB, PDGFB, XPR1, and MYORG. PDGFRB encodes the platelet-derived growth factor receptor-beta, and is expressed in neurons, vascular smooth muscle cells and pericytes. Patients with a PDGFRB mutation seem to exhibit a milder phenotype and milder brain calcification on brain imaging than patients with SLC20A2 and PDGFB mutations. However, this is based on a few observations so far.

SUBMITTER: Mathorne SW 

PROVIDER: S-EPMC6460731 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature