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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.
People with aceruloplasminemia develop a variety of movement problems. They may experience involuntary movements such as rhythmic shaking (tremors), jerking movements (chorea), eyelid twitching (blepharospasm), and grimacing. They may also have difficulties with coordination (ataxia). Some affected individuals develop psychiatric problems and progressive deterioration of cognitive functions (dementia) in their forties or fifties.
In addition to neurological problems, iron accumulation in the tissues and organs results in a corresponding iron deficiency in the blood, leading to a shortage of red blood cells (anemia). Affected individuals may also have diabetes mellitus caused by iron damage to certain cells in the pancreas. These cells make insulin, which is a hormone that helps control blood sugar levels. Anemia and diabetes usually occur by the time an affected person is in his or her twenties. Affected individuals also have changes in the light-sensitive tissue at the back of the eye (retina). The changes result in small opaque spots and areas of tissue degeneration (atrophy) around the edges of the retina. These abnormalities usually do not affect vision but can be observed during an eye examination.
Aceruloplasminemia has been seen worldwide, but its overall prevalence is unknown. Studies in Japan have estimated that approximately 1 in 100,000 individuals in this population are affected.
Mutations in the CP gene cause aceruloplasminemia. The CP gene provides instructions for making a protein called ceruloplasmin, which is involved in iron transport and processing. Ceruloplasmin helps move iron from the organs and tissues of the body and prepares it for incorporation into a molecule called transferrin, which transports it to red blood cells.
CP gene mutations result in the production of ceruloplasmin protein that is unstable or nonfunctional, or prevent the protein from being secreted by the cells in which it is made. When ceruloplasmin is unavailable, the resulting iron transport problems lead to iron accumulation, neurological dysfunction, and the other health problems seen in aceruloplasminemia.
Changes in this gene are associated with aceruloplasminemia.
This condition is inherited in an autosomal recessive pattern, which means 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 they typically do not show signs and symptoms of the condition.
These resources address the diagnosis or management of aceruloplasminemia and may include treatment providers.
You might also find information on the diagnosis or management of aceruloplasminemia in Educational resources (http://www.ghr.nlm.nih.gov/condition/aceruloplasminemia/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/aceruloplasminemia/show/Patient+support).
General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).
To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.
You may find the following resources about aceruloplasminemia helpful. These materials are written for the general public.
You may also be interested in these resources, which are designed for healthcare professionals and researchers.
For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).
anemia ; ataxia ; atrophy ; autosomal ; autosomal recessive ; cell ; chorea ; deficiency ; dementia ; diabetes ; diabetes mellitus ; familial ; gene ; hormone ; insulin ; involuntary ; iron ; molecule ; neurological ; opaque ; pancreas ; population ; prevalence ; protein ; recessive ; retina ; tissue ; transferrin
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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