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Related Experiment Video

Updated: Jun 22, 2026

Generation and Isolation of Cell Cycle-arrested Cells with Complex Karyotypes
05:22

Generation and Isolation of Cell Cycle-arrested Cells with Complex Karyotypes

Published on: April 13, 2018

[Chorea-acanthocytosis without acanthocytes].

C Bayreuther1, M Borg, C Ferrero-Vacher

  • 1Service de neurologie, hôpital Pasteur, CHU de Nice, 30, voie Romaine, 06002 Nice, France. bayreuther.c@chu-nice.fr

Revue Neurologique
|June 6, 2009
PubMed
Summary
This summary is machine-generated.

Chorea-acanthocytosis (ChAc) is a rare neuroacanthocytosis syndrome. This case highlights that acanthocytes may be absent, emphasizing the utility of chorein western blot for diagnosis.

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Last Updated: Jun 22, 2026

Generation and Isolation of Cell Cycle-arrested Cells with Complex Karyotypes
05:22

Generation and Isolation of Cell Cycle-arrested Cells with Complex Karyotypes

Published on: April 13, 2018

Area of Science:

  • Neurogenetics
  • Cell Biology
  • Movement Disorders

Background:

  • Chorea-acanthocytosis (ChAc) is a rare neuroacanthocytosis syndrome.
  • Characterized by neurological abnormalities and acanthocytes (spiculated red blood cells).
  • Symptoms include involuntary movements, psychiatric issues, and cognitive decline.

Observation:

  • A 26-year-old male presented with hyperkinetic movements, cognitive decline, and behavioral abnormalities.
  • Brain MRI revealed striatal atrophy; Huntington's disease testing was negative.
  • Multiple blood smears failed to detect acanthocytes, complicating the diagnosis.

Findings:

  • Despite the absence of acanthocytes, chorein levels were markedly reduced in erythrocyte membranes via western blot.
  • This finding, along with clinical presentation, supported a diagnosis of ChAc.
  • VPS13A gene mutation analysis is pending.

Implications:

  • The presence of acanthocytes is not mandatory for a ChAc diagnosis.
  • Chorein western blot is a valuable diagnostic tool when acanthocytes are absent.
  • This case expands the understanding of ChAc presentation and diagnostic criteria.