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

Fahr’s disease consists of a pathological accumulation calcium in the basal ganglia and other subcortical structures. This phenomenon causes symptoms such as Parkinson’s tremors, loss of motor skills, progressive cognitive impairment, 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 knowledge about it is limited today; it could also be one of the reasons why there is no cure 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, A set of subcortical brain nuclei associated with the learning and automation of movements, among other functions. It can also affect other areas of the brain.

    Therefore, this alteration causes motor symptoms, such as parkinsonian tremors and dysarthria, but also psychological symptoms, including low mood and psychosis-like phenomena (e.g. hallucinations), and others. types; it is necessary to emphasize the appearance of epileptic 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 cerebral nuclei”, “Chavany-Brunhes syndrome” and “Fritsche syndrome”.

      Epidemiology and prognosis

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

      It is very difficult to make predictions about the development of Fahr disease cases, as 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 is that the disease ends up causing death.

      Symptoms of this disease

      The severity of symptoms of Fahr’s disease vary from case to case. While many affected people show no signs, in other cases they do present themselves 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 have particularly caught the attention of medicine in the case of Fahr’s disease are Symptoms of Parkinson’s disease, which include tremors while restingMuscle stiffness, gait disturbance, involuntary movements of the fingers or a characteristic absence of facial expression, called a “face mask”.

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

      • Gradual onset of cognitive and memory deficits with dementia
      • Motor disorders such as parkinsonian tremor, athetosis and choreic movements
      • seizures
      • Headache
      • Psychotic symptoms: loss of contact with reality, hallucinations, delusions, etc.
      • Alterations in sensory perception
      • Loss of acquired motor skills
      • Eye and eye movement dysfunction
      • Difficulty walking
      • Muscle stiffness and spasticity
      • Impairment in the articulation of phonemes (dysarthria) and slowing of speech
      • Emotional instability and depressive symptoms
      • Difficulty swallowing food and fluids
      • Increased risk of ischemic stroke

      Causes and pathophysiology

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

      The affected brain structures are essential in the manifestation of Fahr syndrome are the basal ganglia (especially the pale globe, putamen and caudate nucleus), thalamus, cerebellum and subcortical white matter, that is, that is, the sets of myelinated neuronal axons located under 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 linked to the metabolism of phosphates and to the maintenance of the blood-brain barrier, which is fundamental in the biochemical protection of the brain.

      However, autosomal dominant inheritance accounts for only about 60% of cases of Fahr disease. Otherwise, the causes are recessive inheritance, infections such as HIV (AIDS virus), parathyroid gland dysfunction, central nervous system vasculitis, radiation therapy and chemotherapy.

      Bibliographical references:

      • Mufaddel, AA and Al-Hassani, GA (2014). Calcification of familial idiopathic basal ganglia (Fahr’s disease). Neurosciences (Riyadh). 19: 171-77.
      • Rastogi, R., Singh, AK, Rastogi, UC, Mohan, C. and Rastogi, V. (2011). Fahr syndrome: a rare clinical-radiological entity. Armed Forces of India Medical Journal, 67: 159-61.
      • Saleem, S., Aslam, HM, Anwar, M., Anwar, S., Saleem, M., Saleem, A. and Rehmani, MAK (2013). Fahr syndrome: literature review of current evidence. Orphanet Journal of Rare Diseases, 8: 156.

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