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Chorea-Acanthocytosis

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

Abstract

Chorea-acanthocytosis (ChAc) is a member of a broader group of phenotypically heterogeneous neuroacanthocytosis syndromes which include McLeod syndrome, pantothenate kinase–associated neurodegeneration (PKAN), and Huntington’s disease-like 2. ChAc is an autosomal recessive disorder characterized by chorea, basal ganglia degeneration, and acanthocytosis. Symptoms may begin at any age but often appear in young adulthood. Tongue and lip biting are characteristic features of ChAc and may be associated with orolingual dystonia activated by eating (see Chap. 73). Dysphagia and dysarthria are therefore prominent. There may also be generalized chorea of varying degree, tics, stereotypies, seizures, psychiatric symptoms, and peripheral neuropathy. Brain MRI usually shows caudate and generalized atrophy.

Keywords

Peripheral Neuropathy Deep Brain Stimulation Botulinum Toxin Masseter Muscle Autosomal Recessive Disorder 
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

Chorea-acanthocytosis.mp4 (MP4 25,766KB)

The patient exhibits reduced facial expression, dysarthria, perioral tremor, and difficulty chewing due to oral phase dysphagia.

References

  1. 1.
    Walker RH, Jung HH, Dobson-Stone C, et al. Neurologic phenotypes associated with neuroacanthocytosis. Neurology. 2007;68:92–8.PubMedCrossRefGoogle Scholar
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    Hardie RJ, Pullon HWH, Harding AE, et al. Neuroacanthocytosis. A clinical, haematological, and pathological study of 19 cases. Brain. 1991;114:13–49.PubMedGoogle Scholar
  3. 3.
    Dobson-Stone C, Velayos-Baeza A, Filippone LA, et al. Chorein detection for the diagnosis of chorea-acanthocytosis. Ann Neurol. 2004;56:299–302.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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