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Chorea-acanthocytosis: report of two Brazilian cases

Guilherme Riccioppo Rodrigues1, Ruth H Walker, Benedikt Bader

  • 1Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, Brazil.

Movement Disorders : Official Journal of the Movement Disorder Society
|September 12, 2008
PubMed

Insights

Chorea-acanthocytosis, a rare neurodegenerative disorder, is confirmed in two Brazilian patients by detecting the absence of the chorein protein. This finding aids in diagnosing this rare genetic condition.

Area of Science:

  • Neurogenetics
  • Molecular Neurology

Background:

  • Chorea-acanthocytosis (ChAc) is a rare neurodegenerative disorder.
  • It is caused by mutations in the VPS13A gene, leading to the absence of the chorein protein.

Observation:

  • Two Brazilian patients presented with typical ChAc symptoms: chorea, neuropsychiatric disturbances, epilepsy, and myopathy.
  • Both exhibited acanthocytosis (abnormal red blood cell shape) and elevated creatine kinase (CK) levels.

Findings:

  • Western blot analysis confirmed the absence of chorein in both patients.
  • This is the first report of ChAc confirmation via chorein detection in Brazil.

Implications:

  • The chorein assay is a valuable diagnostic tool for ChAc.
  • Early diagnosis can guide management and genetic counseling for affected families.

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