Aceruloplasminemia
Aceruloplasminemia is a genetic disorder characterized by the gradual accumulation of iron in the brain and other organs, leading to progressive neurological issues and systemic health complications.
Overview
Aceruloplasminemia is a disorder in which iron gradually accumulates in the brain and other organs. Iron accumulation in the brain results in neurological problems that generally appear in adulthood and worsen over time.
Symptoms
People with aceruloplasminemia develop a variety of movement problems, including:
- Involuntary muscle contractions (dystonia) of the head and neck, resulting in repetitive movements and contortions.
- Rhythmic shaking (tremors).
- Jerking movements (chorea).
- Eyelid twitching (blepharospasm).
- Grimacing.
- Difficulty with coordination (ataxia).
Some individuals also develop psychiatric problems and a decline of intellectual function (dementia) in their forties or fifties. Additionally, affected individuals may have diabetes mellitus caused by iron damage to insulin-producing cells in the pancreas. The condition also leads to a shortage of red blood cells (anemia) and changes in the light-sensitive tissue at the back of the eye (retina), which can be observed during an eye examination.
Causes
Mutations in the CP gene cause aceruloplasminemia. This gene provides instructions for making a protein called ceruloplasmin, which is involved in iron transport and processing. When ceruloplasmin is unstable, nonfunctional, or unavailable, the body cannot effectively transport iron out of tissues. The resulting iron accumulation damages cells, leading to neurological dysfunction and other health problems.
Inheritance
This condition is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene but typically do not show signs or symptoms of the condition.