Primary familial brain calcification[1] (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease,[1] is a rare,[2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement.

[5] It usually presents with clumsiness, fatigability, unsteady gait, slow or slurred speech, difficulty swallowing, involuntary movements or muscle cramping.

Neuropsychiatric symptoms, which may be the first or the most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia.

[10] A mutation in the gene encoding the type III sodium dependent phosphate transporter 2 (SLC20A2) located on chromosome 8 has been reported.

These genes are active during angiogenesis to recruit pericytes which suggests that alterations in the blood brain barrier may be involved in the pathogenesis of this condition.

[17] NAA60 is spesifically localized to the Golgi apparatus and can acetylate membrane proteins post-translationally that have cytosolic N-termini starting with methionine followed by hydrophobic- or amphipathic-type amino acids (ML-, MI-, MF-, MY-, and MK-).

[citation needed] As well as the usual sites the cerebellar gyri, brain stem, centrum semiovale and subcortical white matter may also be affected.

On electron microscopy the mineral deposits appear as amorphous or crystalline material surrounded by a basal membrane.

[citation needed] In addition to the usual routine haematologic and biochemical investigations, the serum calcium, phosphorus, magnesium, alkaline phosphatase, calcitonin and parathyroid hormone should also be measured.

[22] The Ellsworth Howard test (a 10–20 fold increase of urinary cyclic AMP excretion following stimulation with 200 micromoles of parathyroid hormone) may be worth doing also.

[citation needed] Elevated levels of copper, iron, magnesium and zinc but not calcium have been reported in the CSF but the significance of this finding—if any—is not known.

[23] The diagnosis requires the following criteria be met:[citation needed] The calcification is usually identified on CT scan but may be visible on plain films of the skull.

[citation needed] Basal ganglia calcification may occur as a consequence of several other known genetic conditions and these have to be excluded before a diagnosis can be made.