Primary Familial Brain Calcification (P2.1-020)

Objective: To indicate the possible identification of a new gene implicated in an inherited disorder in which other genes have been identified. To draw attention to a rare disease that has a common set of presenting symptoms. Background: Primary familial brain calcification (PFBC), also known as Bilateral Striopallidodenate Calcinosis (BSPDC), is a rare neurological disorder specifically characterized by bilateral basal ganglia calcific deposits. Calcifications may be more extensive, involving other regions of brain including cortex, thalami, hippocampi, subcortical white matter and cerebellum. The disease is often attributed to genetic mutations involving a phosphate transporter. Currently, four gene mutations inherited in an autosomal dominant pattern have been identified in BSPDC, accounting for less than 60% of cases. Clinical neuropsychiatric and extra-pyramidal manifestations variously include memory loss, aggression, depression, poor impulse control, suicidal ideation, tremors, movement disorders, dystonia, dyskinesia, as well as seizures. Mainstay of treatment consists of symptomatic management using medication. We now present two male siblings (ages 29 and 34) who manifest variable typical signs and symptoms as described above. Metabolic derangements have not been found. Brain CT and MRI scans showed very extensive calcifications in similar regions. A third male sibling reportedly died at age 10 from “seizures.” One sister is unaffected. Using Next Generation Sequencing we analyzed the four genes identified in Primary Familial Brain Calcification; no variations were identified. This opens the possibility of uncovering a fifth genetic variation. Whole exome sequencing is being pursued. This report draws attention to a rare disease with a common set of presenting symptoms. Design/Methods: N/A Results: N/A Conclusions: N/A Disclosure: Dr. Radaideh has nothing to disclose. Dr. Akintola has nothing to disclose. Dr. Maccabee has nothing to disclose.