Aetiology
A locus at 14q has been suggested, but no gene has been identified. A second locus has been identified on chromosome 8 and a third has been reported on chromosome 2. This suggests there may be some genetic heterogenetity in this disease.
A mutation in the gene encoding the type III sodium dependent phosphate transporter 2 (SLC20A2) located on chromosome 8 has been reported. Biochemical evidence suggests that phosphate transport may be involved in this disease.
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.
Read more about this topic: Fahr's Syndrome