| Abstract |
Primary familial brain calcifications (PFBC) compose a rare neurologic condition characterized by a bilateral pattern of hydroxyapatite deposits in basal ganglia, dentate nuclei, and thalamus. PFBC is identified through neuroimaging screenings such as computerized tomography. Patients with PFBC might present a wide variety of neurological symptoms such as mental and motor impairments, often misdiagnosed as Parkinson's disease,schizophrenia, Alzheimer's disease, and migraine. Four genes were confirmed as causative of PFBC: SLC20A2, PDGFB, PDGFRB, andXPR1. Curiously, other studies made occasional links betweenXPR1variations or expression changes, in a few neuropsychiatric models. This letter is an assembly onXPR1variants and expression change pattern data that were published in recent scientific reports, even before the current connection between that gene and brain calcification. |