Neurodegeneration with brain iron accumulation (NBIA)

Neurodegeneration with brain iron accumulation (NBIA), also known as Hallervorden-Spatz disease, is a genetic condition in which an excessive amount of iron builds up in the brain and gradually breaks down the nervous system.

There are ten types of NBIA, each one affecting the basal ganglia, the area of the brain that controls movement and mobility. While there is no current cure, research is ongoing and treatments are available to help relieve symptoms and slow progression.

Symptoms of NBIA vary depending on type. It primarily causes dementia and mobility issues, but it can lead to a range of other central nervous system conditions. Some of the other main NBIA symptoms include:

• Trouble talking (slow or slurred speech)
• Trouble swallowing
• Involuntary muscle movements, spasms, and contractions
• Confusion and disorientation
• Seizures and convulsions
• Changes in vision
• Weakness and fatigue

Additional symptoms may include stupor (lack of coherence or consciousness) and ataxia (lack of coordination) among others. While some types of NBIA cause cognitive decline, this is rare, even within this rare cluster of diseases.

The actual cause of NBIA is unknown, but it occurs when the ATP13A2, C19orf12, COASY, CP, DCAF17, FA2H, FTL, PANK2, PLA2G6, and/or WDR45 genes are affected. While NBIA is inherited, signs and symptoms may not show until adulthood.

Genetic counseling and testing can help determine the risk for NBIA. When patients are experiencing symptoms, their doctor will likely use magnetic image resonance (MRI) testing to look for iron accumulation in the basal ganglia. The average life expectancy following an NBIA diagnosis is 10-12 years. Complications often include blood clots, dystonia, and respiratory infections that can affect breathing. The inability can also lead to malnutrition. Contact your health care provider if:

• Your symptoms worsen
• You experience increased stiffness in your arms or legs
• You experience unusual movements or muscle spasms
• Your symptoms are interfering with your quality of life

NBIA is a progressive condition, marked by alternating phases of rapid deterioration that last 1-2 months at a time with relatively stable periods in between. Life expectancy depends on factors such as the age at onset and the specific subtype of NBIA an individual has. Unfortunately, premature death is a recognized outcome in NBIA; it is typically attributed to complications related to dystonia and impaired swallowing that leads to nutritional issues or aspiration pneumonia.

However, advancements in medical care have contributed to an increasing number of affected individuals living into adulthood. In cases of atypical, late-onset NBIA, where diagnosis occurs in adulthood, many individuals live well into adulthood. The overall prognosis for those living with NBIA remains complex and depends on individual circumstances.

The collaborative efforts of a multidisciplinary team, including pediatricians, neurologists, pulmonologist, ophthalmologists, orthopedists, gastroenterologists, clinical geneticists, and therapists will be needed to develop and implements a comprehensive treatment plan that is appropriate for each individual patient.