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.

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