Fahr’s disease is a genetically-derived neurodegenerative disease characterized by progressive bilateral calcification of the basal ganglia, a subset of subcortical brainstems related to learning and automation of movement. Apart from basal ganglia, it can also affect other areas of the brain.  This condition that is also called as primary familial brain calcification or cerebrovascular ferrocalcinosis was first described by a German pathologist, Karl Theodor Fahr in 1930.

It consists of pathological accumulation of calcium in the basal ganglia (especially the spinal cord, the putamen, and the caudal nucleus the thalamus, the subcortical and the subcortical white matter, that is, the axonal group of myelinated neurons located beneath the cerebral cortex. This phenomenon causes symptoms such as Parkinson’s tremors, loss of motor skills, progressive cognitive decline, and special psychotic changes, such as hallucinations.

Calcium deposition in the basal ganglia usually happens as you age however the condition worsens if its family inherited.

The pathology of this disease has been associated primarily with genetic mutations transmitted by autosome recessive inheritance. It is known that some of the affected genes are related to phosphate metabolism and blood-brain barrier maintenance, which are fundamental to the biochemical protection of the brain.  However, autosomal dominant inheritance accounts for only about 60% of Fahr’s cases. Other causes include infections such as HIV (AIDS virus), parathyroid gland dysfunction, central nervous system vasculitis, radiotherapy, and chemotherapy.

The severity of the symptoms of Fahr’s disease varies depending on the case. While many people are exposed to no signs, in other cases they appear to have very severe changes that alter perception, cognition or movement. Extrapyramidal symptoms are usually the first to appear.

A set of signs that specifically need attention in the case of Fahr’s disease is Parkinson’s symptoms, which include resting tremors/ pill-rolling tremor, muscle stiffness, changes in gait or lack of a distinctive facial expression, known as ‘facial masking’.

Other  symptoms of this disease are :

• The progressive appearance of deficits in cognition and memory
• Headache
• Psychotic symptoms: loss of contact with reality, hallucinations, delusions, etc.
• Changes in sensory perception
• Loss of motor skills
• Visual disturbance
• Difficulty in walking
• Muscle stiffness and flexibility
• Deficits in phonetic articulation
• Emotional instability and depressive symptoms

The signs and symptoms of Fahr disease are due to the accumulation of calcium and other compounds in the blood circulatory system, especially in the capillary cell wall and large arteries and veins. Among the additional substances that have been detected in this sediment are mucopolysaccharides and elements such as magnesium and iron.

Treatment :

Unfortunately, there is no cure for this disease; at least; at the moment. However, symptomatic treatments are available. For every symptom that you are experiencing, doctors will provide medications to prevent or even treat it. Doctors will also help patients to improve their quality of life by doing physiotherapy: gait training, stretching to prevent deformities, training of balance, etc.

It is difficult to make predictions about the progression of Fahr’s case, as studies show that both severity and patient age cannot be used as predictors of neurological and cognitive deficits.

We advise you (if you have this condition or know someone who has it, to see your doctor every year if the treatment has changed or advanced.

David Cury