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Alexander's disease

Alexander’s disease belongs to the group of rare diseases. It is a fatal and neurodegenerative disorder that is established progressively. A group of cells of the nervous system, called astrocytes, are affected and anomalies appear that, finally, trigger the death of the patient.

Relationship with astrocytes

Astrocytes are star-shaped cells , hence their name. They are the most common type of , are non excitable nerve cells that support the neural networks.

Astrocytes perform functions of a structural nature, are responsible for capturing neurotransmitters (chemicals that participate in the transmission of nerve impulses) and provide the necessary nutrients so that neurons (the main cells of the nervous system) can function normally.

In addition, it is very important to take into account the protective role played by astrocytes, because unlike neurons, they can reproduce. This means that, in case of injury, they can help in the regeneration of the central nervous system and thus minimize the sequelae.

When this disease occurs, the myelin sheaths are destroyed. These are responsible for transmitting the nerve impulse at high speed and with great efficiency. They act as an insulating layer formed by proteins.

Alexander’s disease, therefore, is included in the group of

Patients with this disorder also have abnormal protein clusters called “Rosenthal fibers.”

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Classification and symptoms

Alexander's disease

The subtypes of the disease vary according to the age at which it occurs and its consequences on the patient:

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Causes of Alexander’s disease

Alexander's disease

The causes of this disease are not known yet. However, research is currently underway and everything seems to point to an alteration in the GFAP gene. The genetic alteration of the glial fibrillary acidic protein (GFAP) is of hereditary and dominant character. The anomaly is present in more than 90% of cases.

Diagnosis and treatment

Alexander's disease

For many years, autopsy was the only way to confirm the diagnosis. This is because the symptoms of Alexander’s disease are not specific, as many other debut similarly. Nowadays, we use image techniques. Magnetic resonance is the method most used for the study of the brain.

So far, it is a . There is no known cure and the fact that there are so few cases described make their study extremely difficult, as it is a very rare disease and from which one can hardly draw clear conclusions.

Unfortunately, the disease has an unfavorable prognosis. However, medications that relieve symptoms may be prescribed to try to lead a normal life as possible. Therefore, we speak of a symptomatic treatment that includes, among others, antiepileptic drugs, physical and occupational therapy, speech therapy and rehabilitation.

Alexander's disease