Fahr's disease: what it is, causes and main symptoms

Fahr's disease consists of the pathological accumulation of calcium in the basal ganglia and other subcortical structures. This phenomenon causes symptoms such as parkinsonian tremors, loss of motor skills, progressive cognitive deterioration and alterations typical of psychosis, such as hallucinations.

In this article we will analyze The main causes and symptoms of Fahr syndrome. However, it is a very rare disease, so the knowledge that currently exists about it is limited; This could also be one of the reasons why there is no treatment for the syndrome.

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What is Fahr syndrome?

Fahr syndrome is a neurodegenerative disease of genetic origin that is characterized by progressive bilateral calcification of the basal ganglia, a set of subcortical brain nuclei that are associated with learning and automating movements, among other functions. It can also affect other regions of the brain.

Consequently, this alteration causes motor symptoms, such as parkinsonian tremors and

dysarthria, but also psychological, including decreased mood and psychosis-like phenomena (for example hallucinations), and other types; It is worth highlighting the appearance of seizures and ischemic strokes.

This disease was first described by the German pathologist Karl Theodor Fahr in 1930. It is also known by other names: “idiopathic basal ganglia calcification”, “primary brain calcification”. familial”, “cerebrovascular ferrocalcinosis”, “calcinosis of the nuclei of the brain”, “Chavany-Brunhes syndrome” and “chavany-Brunhes syndrome”. “Fritsche.”

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Epidemiology and prognosis

It is a very rare disorder that mostly affects people in their 40s and 50s; Calcification of the basal ganglia itself is a natural phenomenon associated with age, although it does not usually occur to the degree characteristic of the syndrome. Currently There is no known cure for Fahr's disease..

It is very difficult to make predictions about the development of cases of Fahr disease, since research suggests that neither the severity of calcification nor the patient's age can be used as predictors of neurological deficits and cognitive. However, the most common thing is that the disease ends up causing death.

Symptoms of this disease

The severity of the symptoms of Fahr's disease varies depending on the case. While many affected people do not show any signs, in other cases very severe alterations that alter perception, cognition, movement and other areas of operation. Extrapyramidal symptoms are usually the first to appear.

A set of signs that has drawn special attention from medicine in the case of Fahr's disease are parkinsonian symptoms, including rest tremors, muscle rigidity, gait disturbances, involuntary finger movements or the characteristic lack of facial expressiveness, known as “mask face”.

Briefly, the most common symptoms of this syndrome are the following:

• progressive appearance of deficits in cognition and memory leading to dementia
• Motor disorders such as parkinsonian tremors, athetosis, and choreic movements
• Convulsive crisis
• Headache
• Psychotic symptoms: loss of contact with reality, hallucinations, delusions, etc.
• Alterations in sensory perception
• Loss of learned motor skills
• Dysfunction of eye movements and vision
• Difficulties in walking
• Muscle stiffness and spasticity
• Deficit in the articulation of phonemes (dysarthria) and slowing of speech
• Emotional instability and depressive symptoms
• Difficulty swallowing food and liquids
• Increased risk of ischemic strokes

Causes and pathophysiology

The signs and symptoms of Fahr disease are due to accumulation of calcium and other compounds in the circulatory system, particularly in the cell walls of capillaries and large arteries and veins. Among the additional substances that have been detected in these deposits are mucopolysaccharides and elements such as magnesium and iron.

The brain structures whose involvement is key in the manifestation of Fahr syndrome are the basal ganglia (especially the globus pallidus, putamen, and caudate nucleus), thalamus, cerebellum, and white matter subcortical, that is, the sets of myelinated neuronal axons that are located below the cortex cerebral.

Pathological calcification of these regions has been mainly associated with genetic mutations transmitted by autosomal recessive inheritance. It is known that some of the affected genes are related to phosphate metabolism and the maintenance of the blood-brain barrier, essential in the biochemical protection of the brain.

However, autosomal dominant inheritance only explains about 60% of cases of Fahr disease. In the rest, the causes include recessive inheritance, infections such as HIV (the AIDS virus), parathyroid gland dysfunctions, central nervous system vasculitis, radiotherapy and chemotherapy.