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Case of the Week

Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada

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September 22, 2008

Chorea-acanthocytosis

  • Acanthocytes or star-shaped red blood cells are the phenotype for several underlying conditions including chorea-acanthocytosis.
  • Symptoms include dystonia, dysphagia, seizures, and behavioral changes all starting in early adulthood and worsening with age.
  • Very rare condition (about 1000 cases worldwide)
  • Probably due to mutations of VPS13A gene (9q21) that encodes for chorein
  • Abnormal expression of chorein may lead to abnormal cell membranes in blood and brain

Suggested Reading

Müller-Vahl KR, Berding G, Emrich HM, et al. Chorea-acanthocytosis in monozygotic twins: clinical findings and neuropathological changes as detected by diffusion tensor imaging, FDG-PET and 123I- ' -CIT-SPECT. J Neurol 2007;254:1081-88. SUBSCRIPTION REQUIRED FOR FULL TEXT

Ishida C, Makifuchi T, Saiki S, et al. A neuropathological study of autosomal-dominant chorea-acanthocytosis with a mutation of VPS13A. Acta Neuropathol DOI: 10.1007/s00401-008-0403-1. SUBSCRIPTION REQUIRED FOR FULL TEXT

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