Choreo-acanthocytosis

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Observation of the Ciliary Movement of Choroid Plexus Epithelial Cells Ex Vivo
08:00

Observation of the Ciliary Movement of Choroid Plexus Epithelial Cells Ex Vivo

Published on: July 13, 2015

E P Bharucha1, N E Bharucha

  • 1Seth G.S. Medical College, Bombay, India.

Journal of the Neurological Sciences
|February 1, 1989
PubMed

Insights

This study reports the first Indian family with choreo-acanthocytosis syndrome. Even seemingly healthy members exhibited acanthocytosis, indicating a multisystem disorder affecting cell membranes.

Area of Science:

  • Neurogenetics
  • Hematology
  • Cell Biology

Background:

  • Choreo-acanthocytosis syndrome is a rare, inherited neurodegenerative disorder.
  • It is characterized by involuntary movements (chorea) and abnormal red blood cell morphology (acanthocytosis).
  • Limited data exists on its prevalence and presentation in India.

Observation:

  • A family in India with 4 sisters and 3 brothers was investigated.
  • The proband presented with a complete form of choreo-acanthocytosis syndrome.
  • Two deceased brothers had a history of the disease but no blood examination records.

Findings:

  • The proband displayed classic symptoms of choreo-acanthocytosis.
  • Apparently healthy family members also showed acanthocytosis in their blood.
  • This suggests acanthocytosis is a consistent marker in affected families.

Implications:

  • This is the first documented case of choreo-acanthocytosis in India.
  • The presence of acanthocytosis in healthy relatives suggests a broader impact on cell membranes.
  • This finding highlights choreo-acanthocytosis as a multisystem disorder with potential for subclinical manifestations.

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