Aceruloplasminemia is a rare genetic disorder characterized by the abnormal accumulation of iron in the brain and various internal organs. Affected individuals develop neurological symptoms including cognitive impairment and movement disorders. Degeneration of the retina and diabetes may also occur. Symptoms usually become apparent during adulthood between 20 and 60 years of age. Aceruloplasminemia is caused by mutations of the ceruloplasmin ( CP ) gene. This mutation is inherited in an autosomal recessive pattern.

Aceruloplasminemia is classified as a neurodegenerative disorder with brain iron accumulation (NBIA). NBIA are a group of rare inherited disorders characterized by iron accumulation in the brain. Aceruloplasminemia is also classified as an iron overload disorder

The symptoms and severity of aceruloplasminemia vary from one person to another even among members of the same family. The age of onset varies as well, ranging from anywhere between the 20s and 60s. The three main findings associated with aceruloplasminemia are retinal degeneration, neurological symptoms and diabetes mellitus.

Some individuals with aceruloplasminemia develop mild anemia (low levels of circulating red blood cells), which can cause fatigue, weakness, shortness of breath and pale skin. Anemia often occurs before the development of other symptoms commonly associated with aceruloplasminemia.

Many affected individuals develop progressive degeneration of the retinas. The retinas are the thin layers of nerve cells that line the inner surface of the eyes. The retinas sense light and convert it to nerve signals, which are then relayed to the brain through the optic nerve. The damage to the retinal tissue can result from iron deposition or be related to the diabetes that develops as part of aceruloplasminemia.

A variety of neurological symptoms occur in individuals with aceruloplasminemia because of the accumulation of iron in the brain. Specific symptoms may vary, but often include movement disorders, an inability to coordinate voluntary movements (ataxia), slurred speech or difficulty speaking (dysarthria), behavioral changes and cognitive impairment.

Movement disorders associated with aceruloplasminemia include tremors, chorea (rapid, involuntary, jerky movements) and dystonia, which refers to a group of muscle disorders generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions (postures). An example of dystonia is blepharospasm, a condition characterized by involuntary muscle spasms and contractions of the muscles around the eyes.

Some affected individuals develop symptoms may resemble those found in Parkinson’s disease, which is sometimes referred to as Parkinsonism. These symptoms include tremors, abnormal slowness of movement and an inability to remain in a stable or balanced position. Some individuals with aceruloplasminemia develop cognitive impairment, which can progress to dementia. Behavioral or emotional changes (e.g., depression) may also occur.

Iron accumulation in individuals with aceruloplasminemia may also occur in the pancreas. The pancreas is a small organ located behind the stomach that secretes enzymes that travel to the intestines and aid in digestion. The pancreas also secretes other hormones such as insulin, which helps break down sugar. Damage to the pancreas may ultimately lead to diabetes mellitus. Diabetes is a common disorder in which the body does not produce enough or is unable to properly use insulin. Therefore, the body is not able to properly convert nutrients into the energy necessary for daily activities. The most obvious symptoms are unusually excessive thirst and urination.