Chorea acanthocytosis
Encyclopedia
Chorea-acanthocytosis is a rare hereditary disease
caused by a mutation of the gene that directs structural protein
s in red blood cell
s. It belongs to a group of four diseases characterized under the name Neuroacanthocytosis
. When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocyte
s.
Other effects of the disease may include epilepsy
, behaviour changes, muscle
degeneration, and neuron
al degradation similar to Huntington's Disease
. The average age of onset of symptoms is 35 years. The disease is incurable and inevitably leads to premature death.
Chorea-acanthocytosis is considered an autosomal recessive
disorder, although a few cases with autosomal dominant inheritance have been noted.
Disease
A disease is an abnormal condition affecting the body of an organism. It is often construed to be a medical condition associated with specific symptoms and signs. It may be caused by external factors, such as infectious disease, or it may be caused by internal dysfunctions, such as autoimmune...
caused by a mutation of the gene that directs structural protein
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
s in red blood cell
Red blood cell
Red blood cells are the most common type of blood cell and the vertebrate organism's principal means of delivering oxygen to the body tissues via the blood flow through the circulatory system...
s. It belongs to a group of four diseases characterized under the name Neuroacanthocytosis
Neuroacanthocytosis
Neuroacanthocytosis is a term that refers to a group of genetically diverse conditions complicated by movement disorders, neurological problems and spiculated red blood cells...
. When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocyte
Acanthocyte
Acanthocyte, in human biology and medicine, refers to a form of red blood cell that are spiked, or possess various abnormal thorny projections. Acanthocytosis is the condition with acanthocyte-like red blood cells....
s.
Other effects of the disease may include epilepsy
Epilepsy
Epilepsy is a common chronic neurological disorder characterized by seizures. These seizures are transient signs and/or symptoms of abnormal, excessive or hypersynchronous neuronal activity in the brain.About 50 million people worldwide have epilepsy, and nearly two out of every three new cases...
, behaviour changes, muscle
Muscle
Muscle is a contractile tissue of animals and is derived from the mesodermal layer of embryonic germ cells. Muscle cells contain contractile filaments that move past each other and change the size of the cell. They are classified as skeletal, cardiac, or smooth muscles. Their function is to...
degeneration, and neuron
Neuron
A neuron is an electrically excitable cell that processes and transmits information by electrical and chemical signaling. Chemical signaling occurs via synapses, specialized connections with other cells. Neurons connect to each other to form networks. Neurons are the core components of the nervous...
al degradation similar to Huntington's Disease
Huntington's disease
Huntington's disease, chorea, or disorder , is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and dementia. It typically becomes noticeable in middle age. HD is the most common genetic cause of abnormal involuntary writhing movements called chorea...
. The average age of onset of symptoms is 35 years. The disease is incurable and inevitably leads to premature death.
Chorea-acanthocytosis is considered an autosomal recessive
Recessive
In genetics, the term "recessive gene" refers to an allele that causes a phenotype that is only seen in a homozygous genotype and never in a heterozygous genotype. Every person has two copies of every gene on autosomal chromosomes, one from mother and one from father...
disorder, although a few cases with autosomal dominant inheritance have been noted.