Aurora magazine

Batten's disease is part of juvenile neuronal ceroidolipofuscinoses, which in turn form part of ceroidolipofuscinosis. It is a group of very heterogeneous diseases from the genetic point of view, which occur in school age. They are prevalent in the Scandinavian countries and only in Finland the incidence is 1 in every 21,000 births. In the United States, on the other hand, about 2-4 cases are estimated for every 100,000 newborns.

Batten's disease is the most common form of juvenile neuronal ceroidolipofuscinosis. It occurs around 6 years with a progressive deterioration of vision. For the rest, the child seems healthy. Blindness occurs within a few years, followed by cognitive decline and early symptoms of epilepsy. With time appear dementia and increasingly serious motor disorders, in some cases accompanied by aggressive behavior.

Juvenile neuronal ceroidolipofuscinoses are transmitted in an autosomal recessive manner. In the case of CLN9, the phenotype is known - identical to the Batten disease - but not the gene that causes it. Diagnosis is made by enzymatic testing and clinical observation, including the infiltrated lymphocytes of vacuoles. Molecular testing is used to confirm the diagnosis.

Unfortunately, for the moment there are only symptomatic treatments and lack of resolving therapies. There are palliative treatments that involve the administration of anticonvulsant drugs, but also psychiatric and psychological interventions. Life expectancy is variable, depending on the type of illness. In the case of the Batten disease, it is around 30 years old.

Source: orpha.net

The group of lysosomal storage diseases includes about 50 pathologies. They are all united by an alteration in the functions of lysosomes, the organelles that should degrade the waste of cellular metabolism. Usually, these alterations are caused by a deficit of the enzymes that regulate its activity. This leads to the accumulation of waste substances inside the lysosomes, damaging the tissues.

Lysosomal storage diseases are systemic, thus affecting multiple organs together. Most of these manifest with the following symptoms:

• enlarged liver and spleen;
• damaged central nervous system;
• altered neurological functions;
• eye problems;
• heart disorders;
• muscular disorders.

The age at which the first symptoms occur may vary, but usually occurs in the pediatric age. Diagnosis starts from clinical observation, followed by laboratory tests and enzyme dosage. In couples of healthy carriers, prenatal diagnosis is possible. In fact, if both are carriers, there is a 25% probability that the child will show the disease. In Fabry's disease and in mucopolysaccharidosis type 2, only males can get sick.

Available therapies vary greatly depending on the specific disease, but for now there is no cure. Among the available therapies are enzyme replacement, bone marrow transplantation and pharmacological treatment to degrade waste substances.

Source: telethon.it

With the expression xeroderma pigmentoso refers to a group of hereditary genetic diseases. Pathologies cause extreme sensitivity to ultraviolet radiation, making it impossible to expose oneself to sunlight. Those who suffer are likely to develop injuries to the eyes and skin, which can degenerate into tumors.

The pigmental xeroderma manifests itself in the first months of life. The first symptoms are skin spots on areas exposed to sunlight and eye irritation. The child manifests an extreme dryness of the skin, which makes it very fragile. In late-onset forms (15-40 years), it can also develop neurological abnormalities or development.

The severity of symptoms and the age at which they occur can be very variable. The researchers identified 7 groups of pigmentary xeroderma, each with its own genetic characteristics. The genes involved are mainly related to the DNA repair process, so the code inside the cells can no longer correct the damage.

The transmission of diseases occurs in an autosomal recessive manner: in order to manifest themselves, two altered copies of the gene must be inherited. If the genes involved are known, prenatal diagnosis can be made. Otherwise, the diagnosis is made primarily through clinical observations and a test that examines the self-repair ability of the fibroblast DNA, the skin cells.

Today there is no resolution therapy against pigmentary xeroderma. Doctors recommend avoiding exposure to sunlight to reduce the risk of cancer injury. Those suffering from the disease must also avoid halogen and neon lamps, sources of ultraviolet radiation. Moreover, given the impact on the life of those who suffer, we also recommend adequate psychological assistance.

Source: telethon.it

Phenylketonuclear syndrome or phenylketonuria is a genetic disease that affects metabolism. The sufferer shows an abnormality in the gene that codes for the enzyme phenylalanine-hydroxylase. As a result, the body can not convert the essential amino acid phenylalanine into tyrosine, a precursor of dopamine. Phenylalanine accumulates in the blood and tissues, causing deficiency of serotonin and dopamine. If not addressed in time, the phenylketonuclear syndrome causes severe mental retardation.

The disease is caused by mutations that affect the PAH gene and is transmitted in an autosomal recessive manner. Both parents must be healthy carriers of the disease and the child must inherit the abnormal gene from both. Benign hyperphenylalaninemia is a less severe form of the disease, in which a minimum level of enzyme is maintained.

The diagnosis of phenylketonuria starts from the Guthrie test or another similar test. It is done on newborns and requires only a drop of blood. It allows a quick and precise diagnosis, so as to allow immediate action with the necessary treatments. If there were already cases in the family, prenatal diagnosis can be made. However, for genetic analysis it is necessary to know the mutations involved in the specific case.

If detected immediately, the phenylchetonuric syndrome can be kept under control with a strict diet. Those who suffer must avoid proteins, so as to limit the intake of phenylalanine. This leaves very few foods on the list and makes it difficult to follow the diet, with serious consequences on the neuropsychological level.

Source: telethon.it