Fahr’s disease, Fahr’s syndrome or striopallidodentate calcinosis are all pathological terms for the idiopathic nonarteriosclerotic cerebral calcification of the striopallidodentate system. The syndrome, which is either familial or sporadic, shows a wide range of clinical signs with progressive mental deterioration of pyramidal, extra-pyramidal and cerebellar signs [5,6].

A locus at 14q48 (IBGC1) has been suggested to be involved commonly. A second locus has been identified on chromosome 8 and a third on chromosome 2q37 [7,8]. A loss of function mutation in the gene encoding type III sodium dependent phosphate transporter 2 (SLC20A2) located on chromosome 8 has also been reported as the molecular level to form the genetic basis for the pathophysiology of this disease [9].

At the molecular level, calcification generally develops within the vessel wall and in the perivascular space, ultimately extending to the neuron. Due to defective iron transport and free radical production, tissue damage occurs which leads to the initiation of calcification.  Progressive basal ganglia mineralization tends to compress the vessel lumen, thus initiating a cycle of impaired blood flow, neural tissue injury and mineral deposition. Basal ganglia concretions are recognized as basophilic globules tracking the vessels of arteries, veins and capillaries. Microscopy reveals perivascular granules lying in the region above midbrain [10,11].

Diagnostic criteria of Fahr’s syndrome have been derived from Moskowitz et al. 1971, Ellie et al. 1989, Manyam 2005 [12-14] and it can be stated as follows:

• Bilateral calcification of the basal ganglia visualized on neuroimaging. Other brain regions may also be observed.
• Progressive neurologic dysfunction, which generally includes a movement disorder and/or neuropsychiatric manifestations.
• Age of onset is typically in the fourth or fifth decade, although this dysfunction may also present in childhood.
• Absence of biochemical abnormalities and somatic features suggestive of a mitochondrial or metabolic disease or other systemic disorder.
• Absence of an infectious, toxic, or traumatic cause.
• Family history consistent with autosomal dominant inheritance.

Management strategies and treatment mainly focus on symptomatic relief and are strictly related to the clinical features. Since selective removal of deposited calcium from the brain without effecting calcium from bone and other tissues appears to be an impossible task¹³, pharmacological treatment should be used to improve neurological and/or psychiatric symptoms and to try to remove underlying cause¹⁵. Appropriate antiepileptic drugs for seizures should be used. Patients who develop psychiatric features should be treated with mood stabilizer or antipsychotic drugs. Neuroleptic medication should be used cautiously, since they may exacerbate extrapyramidal symptoms.