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Chorea-Acanthocytosis with Head Drops and Trunk Flexions

  • Roongroj Bhidayasiri
  • Daniel Tarsy
Chapter
Part of the Current Clinical Neurology book series (CCNEU)

Abstract

Chorea-acanthocytosis (ChAc) is a rare autosomal recessive adult-onset neurodegenerative disorder due to VPS13A mutation of the gene encoding chorein. Clinical manifestations include mixed movement disorders, seizures, neuropathy, myopathy, autonomic features, dementia, and psychiatric disability. Because of its numerous clinical features and the availability of specialized genetic tests, clinical clues or red flags are important to assist physicians in recognizing this entity while considering other choreiform movement disorders. It has recently been suggested that flexions of the neck (presenting as head drops) as well as the trunk may be considered characteristic features of advanced ChAc.

Keywords

Clinical Manifestation Characteristic Feature Movement Disorder Psychiatric Disability Trunk Flexion 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Supplementary material

The patient displays generalized chorea and tongue protrusion dystonia. While sitting, there is generalized chorea with intermittent head drops, apparently due to a sudden loss of muscle tone, together with sudden forward flexion and lateropulsion of the trunk. When asked to fold his arms, the truncal movements diminish significantly. He can also reduce the severity of head drops by putting both hands together behind his neck. Alternatively, he may stretch a towel with both hands behind his neck which also reduces the number of head drops.

Chorea-acanthocytosis w. head drops.mp4 (MP4 17,672KB)

References

  1. 1.
    Schneider SA, Lang AE, Moro E, et al. Characteristic head drops and axial extension in advanced chorea-acanthocytosis. Mov Disord. 2010;25:1487–91.PubMedCrossRefGoogle Scholar
  2. 2.
    Kanjanasut N, Jagota P, Bhidayasiri R. The first case report of neuroacanthocytosis in Thailand: utilization of a peripheral blood smear technique for detecting acanthocytes. Clin Neurol Neurosurg. 2010;112:541–3.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2012

Authors and Affiliations

  • Roongroj Bhidayasiri
    • 1
    • 2
  • Daniel Tarsy
    • 3
  1. 1.Chulalongkorn Center of Excellence on Parkinson’s Disease and Related DisordersChulalongkorn University HospitalBangkokThailand
  2. 2.Department of NeurologyDavid Geffen School of Medicine at UCLALos AngelesUSA
  3. 3.Department of NeurologyHarvard Medical School Beth Israel Deaconess Medical CenterBostonUSA

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