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Diagnostic tests for choreoacanthocytosis
T E Feinberg1, C D Cianci, J S Morrow
1Department of Neurology, Beth Israel Medical Center, New York, NY 10003.
Neurology
|July 1, 1991
Summary
Patients with choreoacanthocytosis exhibit red blood cells that easily change shape under stress. This red cell shape abnormality may aid in diagnosing this neurodegenerative disorder.
Area of Science:
- Hematology
- Neurodegenerative Diseases
- Cell Biology
Background:
- Choreoacanthocytosis is a rare neurodegenerative disorder characterized by striatal atrophy and movement abnormalities.
- Diagnosis often relies on clinical presentation and exclusion of other conditions, as routine blood smears may appear normal.
Observation:
- Red blood cells (RBCs) from patients with choreoacanthocytosis showed increased sensitivity to shape change (echinocyte transformation) when exposed to saline dilution, in vitro aging, or glass contact.
- These RBC shape changes were not observed in healthy individuals or patients with Huntington's disease under similar conditions.
Findings:
- Scanning electron microscopy revealed that chlorpromazine could reverse the age-induced increase in acanthocytic-appearing cells in patients.
- These findings suggest a defect in RBC membrane stability or cytoskeletal function in choreoacanthocytosis.
Implications:
- The abnormal RBC shape response to echinocytic stress may serve as a diagnostic biomarker for choreoacanthocytosis.
- Understanding this RBC defect could offer insights into the pathophysiology of neurodegeneration in choreoacanthocytosis.