Alexander disease, also called leukodystrophy with Rosenthal fibers, ismyelogenic megalobar leukodystrophy or hyaline panneuropathy, is a very rare genetic disease, which usually manifests during childhood. It is a neurodegenerative disorder of astrocytes, the main group of glial cells that are responsible for supporting neurons.
Alexander disease is part of the so-called group of leukodystrophic diseases, which are characterized by the progressive destruction of the white matter of the brain. This pathology is also characterized by the appearance of mental retardation and certain physical alterations, such as macrocephaly, due to the appearance of Rosenthal fibers (abnormal protein deposits). The disease develops progressively until it causes death in most cases.
Causes of Alexander disease
Genetic mutations
The disease is caused by mutations in the GFAP gene in the vast majority of cases (over 90%). This gene is responsible for creating a protein called glial fibrillary acidic protein (GFAP), which is a common component of the brain. It is not clear, however, how mutations in this gene cause the disease. In most cases, mutations occur spontaneously and are not inherited from parents. In some very rare cases identified as patients with Alexander disease, no identifiable mutations are found in the GFAP gene, so scientists think there may be other causes that are not identified.
Four categories of the disease have been established, depending on the age of onset (neonatal, infantile, juvenile and adult). They are also categorized based on the severity of the symptoms.
Symptoms of Alexander disease
Different depending on the age of onset
The symptoms of Alexander disease are different depending on which group they belong to (neonatal, infantile, juvenile and adult). Even within the four groups there can be large differences in symptoms and varying levels of severity.
– Neonatal. Severe general and intellectual disability, seizures and fluid in the brain. Life expectancy is around two years.
– Childish. It is the most frequent. It begins during the first two years of life. Intellectual and motor disability, increased head size, lack of coordination and habitual seizures.
– Juvenile. It is the least common and begins between the ages of two and thirteen. Symptoms are vomiting, difficulty swallowing, breathing and speaking, incoordination, head elevation, seizures, permanently contracted muscles (spasticity), gradual loss of intellectual capacity and control of movement.
– Adult. It is the mildest form and presents different symptoms in each case. It begins in adolescence or adulthood. It can resemble Parkinson’s disease or multiple sclerosis. You may have problems speaking, swallowing, breathing or eating and may also have exaggerated reflexes. Other symptoms are: constipation, urinating many times a day, impotence, hypotension and sleep disorders.
Alexander disease treatment and medication
palliative treatment
There is no specific treatment because it is necessary to vary it in each case. Supportive treatment is prescribed that includes general care and seeks to reduce the effects of the disease.
Prevention of Alexander disease
Without prevention
The appearance of this disease cannot be prevented.
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