is of unknown origin, although it is suspected to be genetic.

For many families, the person diagnosed with NBIA is the first and only affected individual, so it is difficult to know whether there is a specific pattern of inheritance. It is thought that most of these cases are probably recessive because some families have more than one affected child and idiopathic NBIA is more common in families in which the parents are related, such as distant cousins. That would make it more likely that they share a recessive gene.

The symptoms are more varied because there are probably several different causes of neurodegeneration for individuals in this group. As with other forms of NBIA, the idiopathic form features early- and late-onset types. About 35 percent of those diagnosed with NBIA are believed to be in this group.

Individuals affected with idiopathic NBIA disorder fall into one of the two categories


Suspicion of NBIA usually arises when an MRI of the brain shows excessive iron accumulation, along with a movement disorder. Depending on symptoms, genetic testing is done to rule out other forms of NBIA. If all are negative and the findings are characteristic of NBIA, then the diagnosis of Idiopathic NBIA is given until further evidence of the genetic origin or another cause is determined.

Evaluations to determine the extent of the disease

Neurologic examination for movement disorders,

Eye exam



Affected individuals may need a feeding tube or other assistance to achieve adequate nutrition. Other therapies and medication can be recommended by a team of medical experts.


Testing to find the gene responsible for an individual form of NBIA may be pursued.


Researchers continue their search for remaining genes that cause NBIA disorders and much progress is being made with new technology. Affected individuals diagnosed with Idiopathic NBIA might want to participate in the International Patient Registry. If a new gene is found by researchers, the person’s samples will be examined to see if they have mutations and their form of NBIA identified. A newer technology called whole exome sequencing can help shed light on these cases. This type of testing may be available as research or as a clinical test.

There are two research repository, NBIAcure in USA and the international NBIA patient registry in Europe for other gene changes responsible for NBIA that have not yet been discovered.

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Prenatal Testing

In the absence of a known genetic mutation, testing during pregnancy to assess risk is not possible.