Alexander’s disease is a very rare neurological pathology that has a progressive character. The causes of this pathological condition have not yet been identified, but the theory of GFAP gene mutation holds the strongest positions. This gene is responsible for coding for glial fibrillar acidic protein.
Alexander’s disease occurs sporadically, there is information about frequent family cases of this pathology. The disease is inherited according to an autosomal dominant type of inheritance. At the moment, scientists distinguish three varieties of this pathology: adult, youthful and infant.
The first manifestations of the infant form of the disease begin approximately when the child is 6 months old. The main symptoms can be called pathological growth of the head, as well as neurological disorders. Delays in psychomotor and physical development are observed. Some extrapyramidal disorders appear, such as chorearthrosis and dystonia. Perhaps the development of spastic tetraparesis. In addition to all this, the child has difficulty swallowing. Occasionally, a patient may notice nystagmus, as well as how the eyeballs involuntarily move. Sometimes the patient has apnea. On average, patients live 2-3 years after the first symptoms appear. Diseases of the nervous system in children are very dangerous for the body not yet strong.
Alexander’s disease, which proceeds in a youthful form, begins to develop in the period from 4 to 14 years. A retrospective analysis revealed that the primary symptoms appear earlier: children are behind in psychomotor development until two years of age, epilepsy attacks are often observed, tetraparesis is gradually formed, pseudobulbar disorders, frequent apnea attacks are possible. In most patients, macrocephaly is detected, but it cannot be put on a par with the characteristic signs of this pathology in the infantile period. Patients often suffer from unexplained bouts of vomiting, especially in the morning. Gradually, an increase in pyramidal disorders, such as brain ataxia, convulsions, is noted. It is worth noting that the intelligent function is not affected. On MRI, Alexander's disease (photo below) is manifested by typical changes. Life expectancy is 7-9 years from the onset of the main symptoms.
The adult form of the disease is very diverse in its clinical manifestations. From the second to the seventh decade of life, the onset of symptoms is noted . Gradually, patients develop signs of cerebellar damage, as well as corticospinal tracts. Less common are nystagmus and cognitive impairment .
The main diagnostic method for this pathological process is MRI, CT, and DNA analysis. Alexander’s disease has no specific treatment. Therapy is symptomatic. The prognosis is poor and depends on how quickly the pathology manifests. The sooner this happens, the faster the death occurs.