Chorea-AcanthocytosisSymptoms, Doctors, Treatments, Advances & More
Learn About Chorea-Acanthocytosis
View Main Condition: Movement Disorders
Chorea-acanthocytosis is primarily a neurological disorder that affects movement in many parts of the body. Chorea refers to the involuntary jerking movements made by people with this disorder. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of conditions called neuroacanthocytoses that involve neurological problems and abnormal red blood cells.
Mutations in the VPS13A gene cause chorea-acanthocytosis. The VPS13A gene provides instructions for producing a protein called chorein; the function of this protein in the body is unknown. Some researchers believe that chorein plays a role in the movement of proteins within cells. Most VPS13A gene mutations lead to the production of an abnormally small, nonfunctional version of chorein. The VPS13A gene is active (expressed) throughout the body; it is unclear why mutations in this gene affect only the brain and red blood cells.
It is estimated that 500 to 1,000 people worldwide have chorea-acanthocytosis.
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.
Texas Health Family Care
Karna Gocke is a primary care provider, practicing in Family Medicine in Prosper, Texas. Dr. Gocke is rated as an Advanced provider by MediFind in the treatment of Chorea-Acanthocytosis. She is also highly rated in 33 other conditions, according to our data. Her clinical expertise encompasses Vitamin D Deficiency, Peripheral Neuropathy, Familial Hypertriglyceridemia, Obesity, and Intrauterine Device Insertion. Dr. Gocke is currently accepting new patients.
Texas Health Family Care
Emily Jones is a primary care provider, practicing in Family Medicine in Richardson, Texas. Dr. Jones is rated as an Advanced provider by MediFind in the treatment of Chorea-Acanthocytosis. She is also highly rated in 11 other conditions, according to our data. Her clinical expertise encompasses Obesity, Familial Hypobetalipoproteinemia, Familial HDL Deficiency, and Hypolipoproteinemia. Dr. Jones is currently accepting new patients.
Adrian Danek practices practicing medicine in Munich, Germany. Mr. Danek is rated as an Elite expert by MediFind in the treatment of Chorea-Acanthocytosis. He is also highly rated in 25 other conditions, according to our data. His clinical expertise encompasses Chorea-Acanthocytosis, Frontotemporal Dementia, Dementia, and Mcleod Neuroacanthocytosis Syndrome.
Published Date: March 01, 2020
Published By: National Institutes of Health