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.
Hallervorden-Spatz disease; Pantothenate kinase-associated neurodegeneration; PKAN; NBIA
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.
NBIA mainly causes movement problems. Other symptoms may include:
There is no specific treatment for NBIA. Medicines that bind iron may help slow the disease. Treatment is mainly focused on controlling the symptoms. The most commonly used medicines to control symptoms include baclofen and trihexyphenidyl.
NBIA gets worse and damages the nerves over time. It leads to a lack of movement, and often death by early adulthood.
Medicine used to treat symptoms can cause complications. Being unable to move from the disease can lead to:
Call your provider if your child develops:
Genetic counseling may be recommended for families affected by this illness. There is no known way to prevent it.
Gregory A, Hayflick S, Adam MP, et al. Neurodegeneration with brain iron accumulation disorders overview. 2013 Feb 28 [updated 2019 Oct 21]. In: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Internet]. Seattle, WA: University of Washington; 1993-2020. PMID: 23447832 pubmed.ncbi.nlm.nih.gov/23447832/.
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 November 3, 2020.