NBIA Explanations

NBIA stands for Neurodegeneration with iron deposition in the brain. Neurodegeneration with iron deposition in the brain is a disease that occurs with a very low frequency. The disease is often referred to by the abbreviation NBIA in international medical jargon. Neurological degeneration occurs as part of neurodegeneration with iron deposits in the brain. What is typical of the disease is primarily that iron is deposited in the intercerebral areas, especially in the so-called basal ganglia.

What is brain iron deposition neurodegeneration?

The synonymous, but now obsolete, term for neurodegeneration with brain iron deposition is Hallervorden-Spatz syndrome. The disease is relatively rare, with an incidence of between 1 and 9 cases per million people. See AbbreviationFinder for abbreviations related to NBIA.

Affected patients show accumulations of iron in the brain, which is primarily concentrated in the basal ganglia. This is a special area within the human brain. Basically, neurodegeneration with iron deposition in the brain is a degenerative disease.

The areas most affected by the deposits are the basal ganglia, especially the so-called substantia nigra and the globus pallidus. Neurodegeneration with brain iron deposition is usually inherited by offspring in an autosomal recessive manner. In principle, neurodegeneration with iron deposits in the brain is included in the category of so-called neuroaxonal dystrophies.

Neurodegeneration with iron accumulation in the brain was first described in 1922 by Hallervorden and Spatz. Based on these two researchers, the disease was initially named Hallervorden-Spatz syndrome. The statistics show that around 45 people in Germany are currently suffering from neurodegeneration with iron deposits in the brain.

Causes

The causes of neurodegeneration with iron deposits in the brain are primarily of a genetic nature. A defect in a specific gene is decisive for the development of the disease. Basically, neurodegeneration with iron deposition in the brain is passed on in an autosomal recessive manner.

The gene responsible for the disorder is the so-called pantothenate kinase 2. It is located on the 20th chromosome. The corresponding protein is essential for the formation of coenzyme A. Disturbances lead to accumulations of the substances panthethein and cysteine.

Both develop a toxic effect or form free radicals as soon as they come into contact with iron. In this way, the brain of the affected person is oxidatively impaired. Both iron and neuromelanin are deposited in relatively large amounts in the context of neurodegeneration with iron deposition in the brain.

Symptoms, Ailments & Signs

Neurodegeneration with iron deposition in the brain is associated with a variety of complaints for those affected. In the majority of cases, the degenerative disease begins in childhood. A typical combination of symptoms can be observed even in children who are younger than ten years old.

On the other hand, it is also possible that neurodegeneration with iron deposition in the brain does not begin until adulthood. In the beginning, there are usually movement disorders of an extrapyramidal nature. Gait disorders, for example, are particularly common, with the affected persons tending to falls or what is known as leg dystonia.

Psychological peculiarities occur less frequently. Later, the movement disorders expand to include symptoms such as tremor, dystonia, and choreoathetosis. A rigid increase in muscle tone, retardation and hyperreflexia are also possible. The affected persons may show signs of dementia.

Neurodegeneration with brain iron deposition is also often characterized by dysphagia and dysarthria. It is also typical that the neurodegeneration with iron deposition in the brain is progressive. This means that the symptoms and the state of health of the sick patients gradually worsen.

Diagnosis & course of disease

In the case of characteristic symptoms of neurodegeneration with iron deposition in the brain, an appropriate doctor should be consulted immediately. At the beginning of the diagnosis, the treating specialist carries out a so-called anamnesis, in which the patient reports on his symptoms and his general lifestyle. After that, the focus is on the clinical symptoms and signs of the disease.

Based on various studies, neurodegeneration with iron deposits in the brain can be diagnosed with relative certainty. This often involves an MRI scan of the brain. A deposit of iron is visible in the area of ​​the globus pallidus, which is also known as the ‘tiger eye sign’. In the context of genetic analyzes of the affected person, corresponding mutations can also be detected under certain circumstances, which are suitable for diagnosing neurodegeneration with iron deposits in the brain.

Complications

Due to the neurodegeneration with iron accumulation in the brain, the patients suffer from various complaints. As a rule, however, these depend heavily on the severity of the disease. In many cases, those affected suffer from gait disorders and restricted mobility. It is not uncommon for those affected to fall and thus also suffer severe accidents.

Symptoms of dementia can also occur due to neurodegeneration with iron deposits in the brain and thus significantly restrict the everyday life of those affected. It is not uncommon for patients to be dependent on the help of other people as a result of the disease. This leads to confusion and forgetfulness, so that the patient’s quality of life is also significantly reduced.

If neurodegeneration with iron deposits in the brain already occurs in children, this disease also leads to considerable limitations and delays in the child’s development, so that complaints and complications can also occur in adulthood. Treatment of neurodegeneration with iron deposition in the brain is not possible.

With the help of various therapies, individual complaints can be alleviated. There are no complications. However, a positive course of the disease cannot be predicted in every case.

When should you go to the doctor?

If the growing children and adolescents develop physical disorders or impairments in the movement sequences, it is advisable to consult a doctor. Unsteady gait, limitations in natural joint movements or an increased risk of accidents and injuries must be examined by a doctor. If the affected person can no longer participate in the usual sporting activities or leisure activities due to the existing symptoms, there is cause for concern.

A doctor’s visit is necessary in the case of a stiffening of the extremities, a tremor or a delay in the natural reflex movements. If there are behavioral problems, listlessness or apathy, a doctor is needed. In the case of mood swings or other peculiarities of the occurrence as well as reduced performance, the clarification of the existing symptoms is necessary. Due to the physical irregularities, mental stress can develop, which should be treated at an early stage.

The first signs are a reduced sense of well-being, a depressed mood, a withdrawal from social and community life and an increased willingness to deal with conflict. If the existing symptoms slowly increase in intensity over several weeks and months, there is a need for action. A doctor must be consulted so that an improvement in the quality of life can be initiated through a targeted therapy plan. If sufferers show confusion or changes in their usual ability to learn, these are worrying indicators. You must be presented to a doctor immediately.

Treatment & Therapy

According to the current state of research, there is still no causal therapy option for neurodegeneration with iron accumulation in the brain. However, attempts have already been made to treat the defect in the enzyme. The active substance iron chelator Ferriprox is currently being tested here.

Hyperkinesia and dystonia may be relieved with deep brain stimulation. In many cases, benzodiazepines and baclofen are used to relax the muscles. These also serve to relieve pain.

Outlook & Forecast

In people with neurodegeneration with iron accumulation in the brain, a genetic defect was found to be the cause of the health impairments. As a result, the prognosis is unfavorable. According to the current scientific and legal status, no modification of human genetics may be made. Therefore, a cure for the disease can be ruled out to this day.

Researchers and treating physicians concentrate on treating the individually severe symptoms as best as possible. The goal is to improve the patient’s quality of life. If medical help is not sought, this decision can lead to numerous complications. States of confusion and forgetfulness trigger severe problems in coping with everyday life.

The affected person is dependent on the help and support of other people, since otherwise complete self-sufficiency cannot be adequately guaranteed. Due to existing balance disorders and limitations in the musculoskeletal system, the risk of accidents is increased. This can lead to secondary diseases and thus to further health problems.

With an early diagnosis and an immediate start of therapy, numerous improvements in the general condition can be achieved. The required treatment measures are selected individually. What all patients have in common is that they need continuous medical treatment throughout their lives and receive long-term therapy.

Prevention

Neurodegeneration with iron deposition in the brain is a congenital disease based on a genetic defect or mutation. Therefore, effective prevention of the disease is not possible with the means currently available.

Aftercare

Neurodegeneration with iron deposits in the brain cannot currently be treated curatively and therefore places high demands on aftercare. Since the disease affects all areas of life, the aftercare measures cover several areas. In general, the aim is to improve the quality of life of those affected.

Depending on the symptoms, long-term physiotherapy, speech therapy and occupational therapy are used. These therapies ensure that, among other things, the movement functions, fine motor skills or language functions are retained or even improved as far as possible. Many patients also need aids that have to be individually adapted over time.

In the event of incorrect posture or spasms, aids (ortheses) are used to immobilize and stabilize the body and the corresponding joints. The orthoses also require constant monitoring and adjustment to the course of the disease. If the disease progresses, the follow-up care will determine which additional aids may still be necessary.

Appropriate medication must also be administered to relieve pain or reduce spasticity. It can sometimes take a long time to find the balance between drug combinations that are as effective as possible and have as few side effects as possible. Neurologically effective drugs also require slow creeping in until they are fully effective. Follow-up care also includes psychological support for patients, which can help them to better deal with the disease.

You can do that yourself

Since the disease is associated with limitations in mobility, daily exercise sessions to stabilize the gait should take place. Movement sequences and coordination should be promoted and specifically trained. Although the course of the disease is progressive, there is a possibility that these measures will delay developmental progress.

Neurodegeneration already occurs in childhood. In order for patients to be prepared for the further development of the disease, doctors and parents should educate the child as comprehensively as possible. Open questions should always be answered honestly and comprehensively. Emotional and psychological support is important so that the patient can react well to events and difficult situations in everyday life. In addition, an exchange with other affected people can be perceived as very helpful. Patients can communicate with each other and exchange important information via self-help groups or Internet forums.

In order to strengthen mental strength, it is helpful if a sense of achievement is built up in other areas. Targeted leisure activities should promote the child’s zest for life and well-being. Shared experiences help create a feeling of togetherness. Although the organization of leisure time has to experience restrictions, there are various options that can be used despite the illness. This directs the focus to areas other than the disease.