What is the definition of Primary Familial Brain Calcification?
Primary familial brain calcification (PFBC) is a neurodegenerative disorder characterized by calcium deposits in the basal ganglia, a part of the brain that helps start and control movement. The first symptoms often include clumsiness, fatigue, unsteady walking (gait), slow or slurred speech, difficulty swallowing (dysphagia) and dementia. Migraines and seizures frequently occur. Symptoms typically start in an individual's 30's to 40's but may begin at any age.The neuropsychiatric symptoms and movement disorders worsen over time. Mutations in the SLC20A2, PDGFRB, and PDGFB genes have been found to cause PFBC. This condition is inherited in an autosomal dominant manner.
What are the alternative names for Primary Familial Brain Calcification?
- FIBGC (formerly)
- Idiopathic basal ganglia calcification 1
- Fahr's Syndrome (formerly)
- Bilateral striopallidodentate calcinosis
- Cerebral calcification nonarteriosclerotic idiopathic adult-onset
- Striopallidodentate calcinosis autosomal dominant adult-onset
- Ferrocalcinosis, cerebrovascular
- Fahr disease, familial (formerly)
- Primary familial brain calcification
- Familial idiopathic basal ganglia calcification (formerly)
What are the causes for Primary Familial Brain Calcification?
PFBC is a genetic condition. Mutations in the SLC20A2 gene are thought to cause about half of the cases of PFBC. Mutations in the PDGFRB and PDGFB genes have also been shown to cause PFBC. In some cases, the genes responsible have not yet been found.
What are the current treatments for Primary Familial Brain Calcification?
There is no standard course of treatment for PFBC. Treatment typically addresses symptoms on an individual basis. Medications may be used to improve anxiety, depression, obsessive-compulsive behaviors, and dystonia. Antiepileptic drugs (AEDs) can be prescribed for seizures. Oxybutynin may be prescribed for urinary incontinence (loss of bladder control). Surveillance typically includes yearly neurologic and neuropsychiatric assessments.
What is the outlook (prognosis) for Primary Familial Brain Calcification?
The prognosis for any individual with PFBC is variable and hard to predict. There is no reliable correlation between age, extent of calcium deposits in the brain, and neurological deficit.