Alpers syndrome: a rare and progressive neurological disease

Alpers syndrome, also known as Alpers disease, is a progressive neuronal degeneration that takes place during childhood. In other words, a degenerative disease of the central nervous system, which evolves continuously.

The first time Alpers syndrome was discussed was in 1931, in the United States. The one who described it initially was the neurologist Bernard Alpers. In 1971 Peter R. Huttenlocher discovered that the disease had a strong impact on liver function.

Therefore, this disorder is also called Alpers-Huttenlocher syndrome. So far it is not known exactly how many people in the world suffer from it. However, it is estimated that 2 out of every 100,000 people suffer from it.

What is Alpers syndrome?

The Alpers syndrome is a disorder of a multisystemic nature, that is, it implies a dysfunction in several systems of the organism. It is characterized by a serious involvement of the gray matter of the brain and the liver, mainly.

This disorder is part of the so-called diseases mitochondrial. Mitochondria are small units of the cell, whose function is the production of energy. When they do not work correctly, they cause different types of symptoms.

In those affected by the Alpers syndrome, a clinical triad occurs, that is, three sets of symptoms. These are: psychomotor retardation, intractable epilepsy and liver failure. It usually manifests itself in children between 2 and 4 years old. Exceptionally occurs in early adolescence.

Causes

Alpers syndrome is caused by mutations in the POLG1 gene. This is like a kind of template to produce the gamma DNA polymerase protein. This is absolutely necessary to copy and repair the DNA of the mitochondria.

When there are PLG1 mutations, the mechanism is damaged of mitochondrial DNA repair. This results in a condition called depletion. The consequence of this is an inability of the mitochondria to produce energy. This leads to progressive cell injuries.

In the syndrome of Alpers nerve cells of the cerebral cortex are damaged. Fatty liver also develops, with increasing hepatic insufficiency. Science does not know the reasons why these specific damages occur.

symptom

People affected by Alpers syndrome present symptoms that mainly involve the functions associated with muscles, nerves and the brain. They have three characteristic symptoms:

• Seizures that become recurrent and that do not improve with any treatment. It is what is called intractable epilepsy.
• Loss of mental abilities and movement, or psychomotor regression.
• Liver disease

Similarly, Those who suffer from Alpers syndrome may present:

• Ataxia, or problems of coordination and balance.
• Neuropathy, or alterations of nerve function.
• Arreflexia, that is, absent or abnormal reflexes.
• Hypotonia, or weakness in muscle tone. This is getting worse, until you lose control over muscles and movement.
• Myoclonus, or involuntary muscle contractions.
• Choreoathetosis, that is, the presence of uncontrollable movements in the extremities.
• Vision problems and even blindness.

It is also possible that there are additional symptoms such as migraines with aura or visual sensations. Likewise, there could be decreased brain function, which manifests as drowsiness, difficulty concentrating and irritability, among others.

Diagnosis and prognosis

Usually, Alpers syndromeand diagnoses during childhood, based on a thorough clinical evaluation. The clinical history of the patient and the results of some specialized tests are also taken into account.

At first the typical symptoms are taken into account of epilepsy, signs of brain injury and liver failure. This allows suspecting the existence of Alpers syndrome. Initially, clinical examinations may not reveal changes in the brain.

Blood and cerebrospinal fluid tests show high levels of lactic acid when there is Alpers syndrome. There is also a high protein content in the fluid in the back. Meanwhile, enzyme analyzes show liver damage.

There is no cure for Alpers disease. The usual thing is that a progressive deterioration during the first decade of life. The outcome is death, which usually occurs due to liver failure. The treatment is only palliative.