Fahr’s disease: what it is, its causes and main symptoms.

This neurodegenerative disease occurs when certain internal parts of the brain are degraded.

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

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

What is Fahr syndrome?

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

Consequently, this alteration causes motor symptoms, such as parkinsonian tremors and dysarthria, but also psychological symptoms, including decreased mood and psychosis-like phenomena (e.g. hallucinations), and other types of symptoms, including the occurrence of seizures and strokes. 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 calcification of the basal ganglia", "familial primary cerebral calcification", "cerebrovascular ferrocalcinosis", "calcinosis of the nuclei of the brain", "Chavany-Brunhes syndrome" and "Fritsche syndrome".

Epidemiology and prognosis

It is a very rare disorder that most commonly affects people in their 40s and 50s; calcification of the basal ganglia itself is a natural age-related phenomenon, although it does not usually occur to the degree characteristic of the syndrome. At present, there is no known cure for the disease. there is currently no known cure for Fahr's disease..

It is very difficult to make prognoses about the development of cases of Fahr's disease, since research suggests that neither the severity of calcification nor the age of the patient can be used as predictors of neurological and cognitive deficits. Most commonly, however, the disease will eventually lead to death.

Symptoms of the disease

The severity of symptoms of Fahr's disease varies from case to case. While many affected people show no signs at all, in other cases, very severe alterations appear that alter severe disturbances that alter perception, cognition, movement and other areas of functioning. and other areas of functioning. Extrapyramidal symptoms are usually the first to appear.

One set of signs that has attracted particular medical attention in the case of Fahr's disease are parkinsonian symptoms, which include resting tremorsThe most common symptoms of this syndrome are: muscle stiffness, gait disturbances, involuntary finger movements or the characteristic lack of facial expressiveness, known as "mask face".

In summary, the most common symptoms of this syndrome are the following:

• Progressive onset of Cognitive and memory deficits leading to dementia.
• Motor disorders such as parkinsonian tremors, athetosis and choreic movements.
• Seizures
• Headache
• Psychotic symptoms: loss of contact with reality, hallucinations, delusions etc.
• Alterations in sensory perception
• Loss of learned motor skills
• Eye movement and visual dysfunction
• Gait difficulties
• Muscle stiffness and spasticity
• Deficits in articulation of phonemes (dysarthria) and slowing of speech
• Emotional instability and depressive symptoms
• Difficulties swallowing food and fluids
• Increased risk of ischemic strokes.

Causes and pathophysiology

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

The brain structures whose involvement is key in the manifestation of Fahr's syndrome are the basal ganglia (especially the globus pallidus, putamen and caudate nucleus), thalamus, cerebellum and subcortical white matter, i.e. the myelinated neuronal axon bundles below the cerebral cortex.

Pathological calcification of these regions has been mostly associated with genetic mutations transmitted by autosomal recessive inheritance. Some of the affected genes are known to be related to phosphate metabolism and to the maintenance of the blood-brain barrier, which is essential for the biochemical protection of the brain.

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