|
Chorea-acanthocytosis (ChAc, also called Choreoacanthocytosis), is a rare hereditary disease caused by a mutation of the gene that directs structural proteins in red blood cells. It belongs to a group of four diseases characterized under the name Neuroacanthocytosis.〔"Chorea Acanthocytosis." Genetics Home Reference. Genetics Home Reference, ::May 2008. Web. 07 Feb. 2010.〕 When a patient's blood is viewed under a microscope, some of the red blood cells appear thorny. These thorny cells are called acanthocytes. Other effects of the disease may include epilepsy, behaviour changes, muscle degeneration, and neuronal 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. Some more information about Chorea-acanthocytosis is that it is a very complex autosomal recessive adult-onset neurodegenerative disorder. It often shows itself as a mixed movement disorder, in which chorea, tics, dystonia and even parkinsonism may appear as a symptom. 〔 Sokolov, E., Schneider, S., Bain, P. (2011, August 2). Chorea-acanthocytosis. Retrieved from http://pn.bmj.com/content/12/1/40.short .〕 This disease is also characterized by the presence of a few different movement disorders including chorea, dystonia etc. 〔 Lo Coco, D., Caruso, G., Mattaliano, Alfredo. (2009, May 13). Deep Brain Stimulation in Chorea Acanthocytosis. Retrieved from http://journals1.scholarsportal.info.myaccess.library.utoronto.ca/tmp/5717586688821322584.pdf.〕 Chorea-acanthocytosis is considered an autosomal recessive disorder, although a few cases with autosomal dominant inheritance have been noted.〔 ==Signs and Symptoms== There are multiple symptoms that can help this disease to be diagnosed, this disease is marked by the presence of acanthocytes in blood (these acanthocytes can sometimes be absent or even make a late appearance in the course of the disease.)〔 Raasch, S., Hadjikoutis, S. (2007, November). Neuromuscular involvement in chorea-acanthocytosis. Retrieved from http://journals1.scholarsportal.info.myaccess.library.utoronto.ca/tmp/1950895113293153776.pdf.〕 and neurodegeneration causing a choreiform movement disorder.〔 Bader, B., Arzberger, T., Heinsen, H., Dobson-Stone, C., Kretzschmar, H.A., Danek, A. (2008). Neuropathology of Chorea-Acanthocytosis. B. Bader et al, 188-190..〕 Another one of them would be that this disease should be considered in patients who have elevated levels of acanthocytes in a peripheral blood film. The serum creatine kinase is often elevated in the body of the people who are affected by this disease.〔 People afflicted by this disease also experience a loss of neurons. Loss of neurons is a hallmark of neurodegenerative diseases. Due to the generally non-regenerative nature of neuronal cells in the adult central nervous system, this results in an irreversible and fatal process of neurodegeneration.〔 There is also the presence of several movement related disorders including chorea, dystonia and bradykinesia, one of the more incapacitating ones includes Truncal spasms. 〔 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Chorea acanthocytosis」の詳細全文を読む スポンサード リンク
|