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.
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 symptoms, including decreased mood and phenomena similar to those of psychosis (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 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 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 and cognitive deficits. 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:
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, the putamen and the caudate nucleus), the thalamus, the cerebellum and the subcortical white matter, that is, the sets of myelinated neuronal axons that are located beneath the cerebral cortex.
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), dysfunctions of the parathyroid gland, vasculitis of the central nervous system, radiotherapy and chemotherapy.
