Familial Idiopathic Basal Ganglia Calcifications (Fahr's Disease)

For a rare disease, Familial Idiopathic Basal Ganglia Calcifications has many names. It has been known as Fahr’s disease (after its discoverer German neurologist Karl Theodor Fahr), as Chavany-Brunhes syndrome and Fritsche's syndrome, and it is also known by its acronym, FIBGC, as well as by the names striopallidodentate calcinosis and cerebrovascular ferrocalcinosis. The cause or causes of this disease have not been determined yet, but its known that it is inherited in an autosomal dominant pattern, meaning that one copy of an altered SLC20A2 or PDGFRB gene in each cell is enough to cause the condition. Therefore, having one parent with FIBGC is a risk factor.

 The main characteristic of FIBGC is an abnormal accumulation of calcium deposits in brain areas that control movement, such as the basal ganglia and cerebral cortex. Symptoms include deterioration of motor function, dementia, seizures, headache, dysarthria (poorly articulated speech), spasticity (stiffness of the limbs) and spastic paralysis, eye impairments, dystonia, ataxia, chorea, and athetosis (involuntary, writhing movements), as well as symptoms associated with the better known Parkinson’s disease, like tremors, muscle rigidity, a mask-like facial expression, shuffling gait, and a "pill-rolling" finger motion on later stages of the disease. In addition, approximately 20% to 30% of patients with FIBGC have psychiatric problems along the lines of difficulty concentrating, memory loss, personality changes, a distorted view of reality (psychosis), and decline in intellectual function (dementia).

Even though FIBGC is considered a rare disease –only about 60 families have been reported as affected in medical literature- it is also deemed to be underdiagnosed – since brain imaging tests are required to detect the deposits of calcium. Either way, there isn’t much awareness about this condition, something that organizations like the Global Genes Project, a leading rare and genetic disease non-profit advocacy group, are trying to change. You can support Global Genes as a customer of Discount Medical Supplies. There is no cure for FIBCG, and there is no standard treatment either. Treatment focuses on individual symptoms. Although this disorder is more common in people in 40’s and 50’s, it can affect individuals of any age, including childhood and adolescence.

If you believe that you are experiencing symptoms similar to those of FIBGC, you should consult a neurologist and tell them your entire medical history, especially regarding any parathyroid problems during childhood growth and development. A diagnosis of FIBCG can be further confirmed or denied with a CT scan or MRI. Prognosis is difficult to establish, as there is no dependable correlation between age, extent of calcium deposits in the brain, and neurological deficit. Similarly, some patients show no symptoms linked to brain calcification, while others display considerable movement and psychiatric issues.

The National Institute of Neurological Disorders and Stroke (NINDS) performs research on FIBCG aimed at locating and understanding the actions of the genes involved in this condition. Spotting these genes could open the door to the effective treatment and prevention of this disorder. To that effect, the NINDS recruits patients for clinical trials.

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