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Neurodegeneration with brain iron accumulation (NBIA)

Hallervorden-Spatz disease; Pantothenate kinase-associated neurodegeneration; PKAN; NBIA

Neurodegeneration with brain iron accumulation (NBIA) are a group of very rare nervous system disorders. They are passed down through families (inherited). NBIA involves movement problems, dementia, and other nervous system symptoms.

Causes

Symptoms of NBIA begin in childhood or adulthood.

There are 10 types of NBIA. Each type is caused by a different gene defect. The most common gene defect causes the disorder called PKAN (pantothenate kinase-associated neurodegeneration).

People with all forms of NBIA have a buildup of iron in the basal ganglia. This is an area deep inside the brain. It helps control movement.

Symptoms

NBIA mainly causes movement problems. Other symptoms may include:

  • Dementia
  • Difficulty speaking
  • Difficulty swallowing
  • Muscle problems such as rigidity or involuntary muscle contractions (dystonia)
  • Seizures
  • Tremor
  • Vision loss, such as from retinitis pigmentosa
  • Weakness
  • Writhing movements
  • Toe walking

Exams and Tests

The health care provider will perform a physical exam and ask about symptoms and medical history.

Genetic tests can look for the defective gene that causes the disease. However, these tests aren't widely available.

Tests such as an MRI scan can help rule out other movement disorders and diseases. The MRI usually shows iron deposits in the basal ganglia, and are called the "eye of the tiger" sign because of the way the deposits look in the scan. This sign suggests a diagnosis of PKAN.

Treatment

There is no specific treatment for NBIA. Medicines that bind iron may help slow the disease. Treatment is mainly focused on controlling the symptoms.

Support Groups

The following resources can provide more information on NBIA:

Outlook (Prognosis)

NBIA gets worse and damages the nerves over time. It leads to a lack of movement, and often death by early adulthood.

Possible Complications

Medicine used to treat symptoms can cause complications. Being unable to move from the disease can lead to:

  • Blood clots
  • Respiratory infections
  • Skin breakdown

When to Contact a Medical Professional

Call your provider if your child develops:

  • Increased stiffness in the arms or legs
  • Increasing problems at school
  • Unusual movements

Prevention

Genetic counseling may be recommended for families affected by this illness. There is no known way to prevent it.

References

Gregory A, Hayflick S. Neurodegeneration with brain iron accumulation disorders overview. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2016. www.ncbi.nlm.nih.gov/books/NBK121988. Updated April 24, 2014. Accessed September 5, 2018.

Jankovic J. Parkinson disease and other movement disorders. In: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology in Clinical Practice. 7th ed. Philadelphia, PA: Elsevier; 2016:chap 96.

NBIA Disorders Association. Overview of NBIA disorders. www.nbiadisorders.org/about-nbia/overview-of-nbia-disorders. Accessed September 5, 2018.

Review Date: 7/29/2018

Reviewed By: Amit M. Shelat, DO, FACP, FAAN, Attending Neurologist and Assistant Professor of Clinical Neurology, Stony Brook University School of Medicine, Stony Brook, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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