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Related Experiment Videos

Huntington's disease--like 2 can present as chorea-acanthocytosis.

R H Walker1, A Rasmussen, D Rudnicki

  • 1Department of Neurology, Veterans Affairs Medical Center, Bronx, NY, USA. ruth.walker@mssm.edu

Neurology
|October 15, 2003
PubMed
Summary

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Huntington's disease-like 2 (HDL2) can present with chorea-acanthocytosis symptoms. Genetic testing revealed a CTG repeat expansion in the junctophilin-3 gene, linking HDL2 to this condition.

Area of Science:

  • Neurogenetics
  • Movement Disorders
  • Molecular Genetics

Background:

  • Autosomal dominant chorea-acanthocytosis is a rare neurodegenerative disorder.
  • Huntington's disease-like 2 (HDL2) is a distinct condition characterized by progressive motor and cognitive decline.
  • Acanthocytosis, the presence of abnormally shaped red blood cells, is a feature seen in some neurodegenerative disorders.

Purpose of the Study:

  • To investigate the genetic basis of chorea-acanthocytosis in a family with a previously described autosomal dominant inheritance pattern.
  • To determine if Huntington's disease-like 2 (HDL2) is associated with chorea-acanthocytosis.
  • To evaluate the clinical and genetic overlap between HDL2 and chorea-acanthocytosis.

Main Methods:

  • Genetic analysis was performed on three patients from a family with autosomal dominant chorea-acanthocytosis.

Related Experiment Videos

  • CTG trinucleotide repeat expansion analysis of the junctophilin-3 gene was conducted.
  • Peripheral blood smears were examined for acanthocytosis in patients with HDL2.

    • Main Results:

    • Three patients diagnosed with autosomal dominant chorea-acanthocytosis were found to harbor the CTG trinucleotide repeat expansion mutation in the junctophilin-3 gene.
    • This mutation is associated with Huntington's disease-like 2 (HDL2).
    • Acanthocytosis was observed in one of six previously identified patients with HDL2, indicating a potential clinical overlap.

    Conclusions:

    • The junctophilin-3 gene CTG repeat expansion, linked to HDL2, can manifest as chorea-acanthocytosis.
    • HDL2 should be considered in the differential diagnosis of chorea-acanthocytosis.
    • Genetic testing for HDL2 may be warranted in patients presenting with chorea-acanthocytosis.