Primary Familial Brain Calcification

What causes primary familial brain calcification (PFBC)?

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.

Last updated on 05-01-20

How is primary familial brain calcification (PFBC) diagnosed?

The diagnosis of PFBC relies upon:

1) visualization of bilateral (on both sides) calcification of the basal ganglia on neuroimaging,
2) presence of progressive neurological dysfunction,
3) absence of a metabolic, infectious, toxic, or traumatic cause, and
4) a family history consistent with autosomal dominant inheritance (a person must inherit one copy of the altered gene from one parent to have the condition).

Molecular genetic testing can help confirm the diagnosis.

Last updated on 05-01-20

Is there genetic testing for primary familial brain calcification (PFBC) even though not all of the causitive genes are known?

Genetic testing may help to confirm the diagnosis. For individuals in who a diagnosis of PFBC is being considered, other causes of brain calcification should be eliminated prior to pursuing genetic testing, particularly in simplex cases. Testing that might be done includes biochemical analysis of blood and urine, as well as analysis of cerebrospinal fluid. If no other primary cause for brain calcification is detected or if the family history is suggestive of autosomal dominant inheritance, molecular genetic testing should be considered.

Sequencing of SLC20A2 should be pursued first. If no mutation is identified, deletion/duplication analysis of SLC20A2 may be considered. If no identifiable mutation or deletion in SLC20A2 is found, sequence analysis of PDGFRB and PDGFB may be considered.

Last updated on 05-01-20

What is the prognosis for primary familial brain calcification (PFBC)?

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.

Last updated on 05-01-20

How might primary familial brain calcification (PFBC) be treated?

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.

Last updated on 05-01-20

In-Depth Information

GeneReviews - Primary Familial Brain Calcification

GeneReviews - Primary Familial Brain Calcification has provides current, expert-authored, peer-reviewed, full-text, comprehensive articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Last updated on 04-27-20

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