Bilateral striopallidodentate calcinosis

Bilateral striopallidodentate calcinosis, also known as Fahr disease or primary familial brain calcification (PFBC), is a rare neurodegenerative disorder characterized by abnormal deposits of calcium in areas of the brain, particularly the basal ganglia (striatum and pallidum), dentate nuclei of the cerebellum, and sometimes the cerebral cortex and subcortical white matter. These calcifications can be detected on brain CT scans and progressively affect neurological function over time. The condition primarily affects the central nervous system and manifests with a wide range of neurological and psychiatric symptoms. Common features include movement disorders such as parkinsonism (rigidity, tremor, slow movement), dystonia, and chorea. Patients may also experience cognitive decline progressing to dementia, psychiatric disturbances including mood disorders, psychosis, and personality changes, as well as cerebellar signs such as ataxia and dysarthria. Seizures may also occur. The severity and combination of symptoms vary considerably between individuals, even within the same family, and some individuals with brain calcifications may remain asymptomatic. Several genes have been identified as causative, including SLC20A2, PDGFRB, PDGFB, XPR1, MYORG, and JAM2, with both autosomal dominant and autosomal recessive inheritance patterns described depending on the gene involved. The most commonly implicated gene is SLC20A2, encoding a phosphate transporter. There is currently no cure or disease-modifying treatment for bilateral striopallidodentate calcinosis. Management is symptomatic and supportive, focusing on treating movement disorders, psychiatric symptoms, and seizures with appropriate medications. Genetic counseling is recommended for affected families.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

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