Calcificación cerebral primaria familiar grave: caracterización genética y progresión radiológica en un reporte de caso y revisión de la literatura

This dataset consists of an Excel matrix compiling peer-reviewed scientific articles related to Primary Familial Brain Calcification (PFBC). The matrix systematically organizes approximately 50 publications, including case reports, case series, observational studies, and narrative or systematic reviews. For each article, the dataset records key analytical variables such as publication type, study design, genes implicated in PFBC (including SLC20A2, PDGFB, PDGFRB, XPR1, and MYORG), inheritance pattern, population characteristics, main clinical manifestations, neuroradiological findings, and proposed pathophysiological mechanisms. This structured dataset was developed to support evidence synthesis, genotype–phenotype analysis, and transparent reporting in rare neurological disease research, particularly in studies focusing on the genetic and radiological characterization of PFBC.