A case report of a patient with primary familial brain calcification with a PDGFRB genetic variant

Fahr’s disease, or primary familial brain calcification (PFBC), is a rare genetic neurologic disease characterized by abnormal of the basal ganglia, subcortical white matter and cerebellum. Common clinical features include parkinsonism, neuropsychiatric symptoms, cognitive decline. Genes implicated in PDGFB , PDGFRB SLC20A2 XPR1 MYORG JAM2 . We present case 51-year-old woman who developed subacute behavioral changes primarily affecting frontal-subcortical pathways parkinsonism association with extensive bilateral calcifications within matter, cerebellum on neuroimaging. Relevant family history included paternal aunt at age 50. Normal parathyroid hormone calcium levels patient’s serum ruled out hypoparathyroidism pseudohypoparathyroidism as causes for intracranial calcifications. Genetic panel sequencing revealed variant unknown significance gene resulting p.Arg919Gln substitution tyrosine kinase domain protein. To our knowledge this first report associated PFBC. Although co-segregation studies were not possible family, location pathogenicity calculators predict it likely to be pathogenic. This adds list variants that warrant functional analysis could underlie development PFBC, which may help further understanding its pathogenesis targeted therapies disorder.