Co-occurrence of primary familial brain calcification from a likely pathogenic <i>SLC20A2</i> variant and Alzheimer’s disease biology

Alzheimer's disease (AD) is the leading cause of cognitive decline, whereas primary familial brain calcification (PFBC) is rare. We analyzed the clinical and radiological findings of a 75-year-old man who presented with memory impairment. Brain imaging revealed bilateral basal ganglia calcification, severe white matter hyperintensities, and significant amyloid deposition. Genetic analysis identified a heterozygous c.1711 G > A variant in <i>SLC20A2</i> and a heterozygous c.166 G > A variant in <i>PSEN2</i>. The patient was diagnosed with genetically confirmed PFBC due to a likely pathogenic <i>SLC20A2</i> variant, together with AD biology. The <i>PSEN2</i> variant was classified as a variant of uncertain significance.