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 does iron deposition in the brain mean?
Accumulation of iron in the brain is extremely dangerous as excess iron catalyzes the formation of free radicals, which have damaging effects to the brain. The iron accumulation characteristic of neuroferritinopathy particularly affects the cerebellum, basal ganglia, and motor cortex regions of the brain.
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.
Can iron be removed from the brain?
At this time there was also evidence for a decrease in substantia nigra iron content, which took up to nine months in the Davos study. Clearly, this indicates that there is a selective removal of iron from different brain regions.
Can iron deposit in the brain?
Iron gradually deposits in specific regions of the normal brain and particularly the basal ganglia. Histologically, the structures richest in iron are the globus pallidus and substantia nigra, followed by the red nucleus, putamen, caudate nucleus, dentate nucleus and the subthalamic nucleus.
Is NBIA curable?
There is no cure for NBIA, nor is there a standard course of treatment. Treatment is symptomatic and supportive, and may include physical or occupational therapy, exercise physiology, and/or speech pathology.
Is BPAN hereditary?
Beta-propeller protein -associated neurodegeneration (BPAN), also known as static encephalopathy of childhood with neurodegeneration in adulthood (SENDA), is a hereditary neurologic disorder. It is part of the group of disorders known as neurodegeneration with brain iron accumulation.
Is BPAN fatal?
Beta-propeller protein-associated neurodegeneration (BPAN) arises in infancy and is due to mutations in the WDR45 gene on the X chromosome. BPAN results in progressive symptoms of dystonia, Parkinsonism, and dementia once the individual reaches adolescence or early adulthood, and is usually fatal before old age.
What does too much iron do to your brain?
Make sure to follow the instructions on iron supplements, and never take more than your doctor recommends. Early symptoms of iron poisoning may include stomach pain, nausea and vomiting. Gradually, the excess iron accumulates in internal organs, causing potentially fatal damage to the brain and liver.
Does the brain need iron?
Iron is involved in many fundamental biological processes in the brain including oxygen transportation, DNA synthesis, mitochondrial respiration, myelin synthesis, and neurotransmitter synthesis and metabolism.
Does iron affect the brain?
In the brain, disruption of iron homeostasis significantly impairs oxidative metabolism of neural cells, with dramatic consequences for synaptic plasticity, myelination, and synthesis of neurotransmitters [4,5].