Chorea-acanthocytosis (ChAc, also called choreoacanthocytosis) is a rare hereditary disease caused by a mutation in a gene that directs structural proteins in red blood cells. 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 acanthocytes. This disease is also characterized by the presence of a few different movement disorders including chorea, dystonia etc.
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| - Corea acantocítica (ca)
- Chorea-Akanthozytose (de)
- Chorea-acanthocytosis (en)
- Acanthocytose chorée (fr)
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| - La corea acantocítica (ChAc, també anomenada coreoacantositosi), és una malaltia hereditària poc comuna causada per una mutació del gen que dirigeix les proteïnes estructurals en els glòbuls vermells de la sang. Pertany a un grup de quatre malalties agrupades sota el nom d'acantocitosis. Quan la sang del pacient és observada a través d'un microscopi, apareixen alguns dels glòbuls vermells característics d'aquesta malaltia amb múltiples espines al seu voltant, i són denominats específicament acantòcits. (ca)
- Die Chorea-Akanthozytose ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Akanthozytose mit neurologischen Auffälligkeiten und normalen Lipoproteinen im Blutserum. Sie gehört zu den Neuroakanthozytosen. Synonyme sind: ChAc; Choreoakanthozytose; Levine-Critchley-Syndrom (de)
- Chorea-acanthocytosis (ChAc, also called choreoacanthocytosis) is a rare hereditary disease caused by a mutation in a gene that directs structural proteins in red blood cells. 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 acanthocytes. This disease is also characterized by the presence of a few different movement disorders including chorea, dystonia etc. (en)
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| - This condition is inherited via autosomal recessive manner (en)
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| - Acanthocytosis with neurologic disorder, Levine-Critchley syndrome, ChAc (en)
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| - La corea acantocítica (ChAc, també anomenada coreoacantositosi), és una malaltia hereditària poc comuna causada per una mutació del gen que dirigeix les proteïnes estructurals en els glòbuls vermells de la sang. Pertany a un grup de quatre malalties agrupades sota el nom d'acantocitosis. Quan la sang del pacient és observada a través d'un microscopi, apareixen alguns dels glòbuls vermells característics d'aquesta malaltia amb múltiples espines al seu voltant, i són denominats específicament acantòcits. Altres efectes de la malaltia poden incloure epilèpsia, canvis de comportament, degeneració muscular i degeneració neuronal, similar a la que pateixen els pacients amb la malaltia de Huntington. L'edat mitjana d'aparició dels símptomes és als 35 anys. La malaltia és incurable i inevitablement condueix a la mort prematura. La corea acantocítica és considerada un trastorn autosòmic recessiu, tot i que també s'han detectat uns quants casos provocats per una herència autosòmica dominant. (ca)
- Die Chorea-Akanthozytose ist eine sehr seltene angeborene Erkrankung mit den Hauptmerkmalen Akanthozytose mit neurologischen Auffälligkeiten und normalen Lipoproteinen im Blutserum. Sie gehört zu den Neuroakanthozytosen. Synonyme sind: ChAc; Choreoakanthozytose; Levine-Critchley-Syndrom Die Namensbezeichnung wurde im Jahre 1985 von Tetsuo Sakai und Mitarbeiter vorgeschlagen und bezieht sich auf den Autoren der Entdeckung des Krankheitsbildes im Jahre 1960 durch den US-amerikanischen Arzt Irvine M. Levine und dessen Erstbeschreibung aus dem Jahre 1964 und 1968 sowie auf den britischen Neurologen MacDonald Critchley. (de)
- Chorea-acanthocytosis (ChAc, also called choreoacanthocytosis) is a rare hereditary disease caused by a mutation in a gene that directs structural proteins in red blood cells. 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 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. Chorea-acanthocytosis 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. This disease is also characterized by the presence of a few different movement disorders including chorea, dystonia etc. Chorea-acanthocytosis is considered an autosomal recessive disorder, although a few cases with autosomal dominant inheritance have been noted. (en)
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| - Choreoacanthocytosis (en)
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