Related Experiment Video
Updated: May 16, 2026

Protocol for Three-dimensional Confocal Morphometric Analysis of Astrocytes
Published on: December 11, 2015
Chorea-acanthocytosis: report of three cases from Iran
Siamak Karkheiran1, Benedikt Bader, Mohammad Roohani
1Movement Disorders Clinic, Rasool Akram Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Insights
Chorea-acanthocythosis (ChAc), a rare inherited neurodegenerative disorder, presents with movement issues and neurological signs. Early diagnosis is aided by recognizing symptoms like axial spasms and elevated creatine kinase (CK) levels.
Area of Science:
- Neurogenetics
- Neurology
- Biochemistry
Background:
- Chorea-acanthocythosis (ChAc) is a rare inherited neurodegenerative disorder.
- It is characterized by movement disorders, neuropsychiatric issues, neuropathy, myopathy, seizures, and acanthocytosis.
- Elevated serum creatine kinase (CK) levels are a common finding in ChAc patients.
Abstract:
Chorea-acanthocythosis (ChAc) is an inherited neurodegenerative disorder characterized by movement disorders, neuropsychiatric disturbances, neuropathy, myopathy, seizures and acanthocytosis accompanied by an elevated serum creatine kinase (CK) level. Its causative gene (VPS13A) produces chorein which is absent in ChAc patients as evaluated by Western blot assay. We report the first three Iranian patients whose disease has been confirmed by chorein Western blot. Our cases presented with heterogeneous courses of ChAc. A high sense of clinical awareness in approaching patients with deteriorating and/or multiple abnormal movements that are accompanied by other neurological signs such as neuropathy, myopathy, seizures and high serum CK level will support an early diagnosis of this disease. We also emphasize on the presence of axial flexion/extension spasms as a good clinical sign for narrowing differential diagnosis.
Related Concept Videos
Huntington Disease l: Introduction
Chronic Kidney Disease II: Clinical Manifestations
Diseases of the Liver and Gallbladder
Cirrhosis is characterized by the scarring of hepatic lobules in the liver, which are replaced by fibrous tissue, affecting the liver's normal functioning. NAFLD, on the other hand, is caused by an excessive build-up of fat in the liver, not related to...
Hepatic Encephalopathy
Viral Hepatitis I: Introduction
Acute Kidney Injury III: Clinical Manifestations