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Disease Profile

Neurodegeneration with brain iron accumulation

Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

1-9 / 1 000 000

US Estimated

Europe Estimated

Age of onset






Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.


Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.


dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.


recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.


Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.


Not applicable


Other names (AKA)



Neurodegeneration with brain iron accumulation (NBIA) is a group of inherited neurologic disorders in which iron accumulates in the basal ganglia. Symptoms include progressive dystonia (a movement disorder resulting in muscular spasms, twisting, and repetitive movements) spasticity, parkinsonism (slurred or slow speech, stiffness of the muscles, slow movement, and visible tremors), inability to coordinate movements (ataxia), neuropsychiatric abnormalities (confusion, disorientation, seizures, stupor, dementia), and eye problems, such as optic atrophy or retinal degeneration. The age of onset ranges from infancy to late adulthood, and the rate of progression varies. Some subtypes have cognitive decline.[1][2] Cerebellar atrophy is common in many cases.[1]

There are ten recognized types of NBIA, classified according to the altered gene that causes the disease. These genes include PANK2, PLA2G6C19orf12FA2H, ATP13A2WDR45, COASYFTLCP and  DCAF17. Eight of the ten types of NBIA are inherited in an autosomal recessive manner. The type known as beta-propeller protein-associated neurodegeneration (BPAN), caused by mutations in the WDR45 gene, is inherited in an X-linked dominant manner. The neuroferritinopathy, caused by mutations in the FTL gene, is inherited in an autosomal dominant manner.[1]

There is no cure for NBIA.[2][3] Treatment is symptomatic, and includes medication such as baclofentrihexyphenidylbotulinum toxin, and a procedure known as deep brain stimulation to treat dystonia.[1] Levodopa and anticholinergic drugs may also bring some relief of parkinsonian symptoms.[3]

The NBIA Disorders Association has detailed information about NBIA. 



This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
80%-99% of people have these symptoms
Iron accumulation in brain
30%-79% of people have these symptoms
Abnormality of extrapyramidal motor function
Cerebellar atrophy
Degeneration of cerebellum
Difficulty articulating speech
Optic atrophy
Noninflammatory retina disease
Muscle rigidity
Involuntary muscle stiffness, contraction, or spasm


Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Social Networking Websites

    • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Neurodegeneration with brain iron accumulation. Click on the link to view a sample search on this topic.


          1. Hayflick GAS. Neurodegeneration with Brain Iron Accumulation Disorders Overview. GeneReviews. February 28, 2013; https://www.ncbi.nlm.nih.gov/books/NBK121988/.
          2. Neurodegeneration with Brain Iron Accumulation Disorders. National Institute of Neurological Disorders and Stroke. https://www.ninds.nih.gov/Disorders/All-Disorders/Neurodegeneration-Brain-Iron-Accumulation-Information-Page.
          3. Jankovic J. Bradykinetic movement disorders in children. UpToDate. August 12, 2015; https://www.uptodate.com/contents/bradykinetic-movement-disorders-in-children.