What is neurodegeneration with brain iron accumulation?

Neurodegeneration with brain iron accumulation (NBIA) is a rare, inherited, neurological movement disorder characterized by an abnormal accumulation of iron in the brain and progressive degeneration of the nervous system. Several genes have been found that cause NBIA.

What causes iron accumulation in the brain?

Mutations of the CP gene result in deficient levels of functional ceruloplasmin, which ultimately results in the accumulation of iron in the brain and other organs of the body. Iron accumulation damages the tissue of affected organs causing the characteristic symptoms of aceruloplasminemia.

What causes NBIA disease?

PKAN, or Pantothenic Kinase-Associated Neurodegeneration, is caused by mutations in the PANK2 gene. This is the most common form of NBIA, making up 35 percent to 50 percent of the NBIA population. This gene provides the instruction for making an enzyme called pantothenate kinase.

How is NBIA diagnosed?

The diagnosis is usually suspected when brain MRI findings suggest abnormal iron accumulation in the basal ganglia. Although all of us have iron in this area, people with NBIA have extra iron made visible on MRI (magnetic resonance imaging) scans.

What causes iron in the brain?

Iron misregulation in the brain may have genetic and non-genetic causes. The disrupted expression or function of proteins involved in iron metabolism increases the concentration of iron in the brain.

What is brain iron accumulation?

Neurodegeneration with brain iron accumulation (NBIA), is a heterogeneous group of rare genetic disorders characterized by accumulation of iron in the basal ganglia, which result in variable neurological disorders including extrapyramidal symptoms, neuropsychiatric and visual. Numerous genes…

What is iron on the brain?

Iron is a top brain food, as it’s needed for supporting brain function because it carries oxygen to the brain; in fact, about 20 percent of all of the oxygen in the body is used by the brain. Therefore, an iron deficiency can impair memory or other mental functions.