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Differential Diagnosis of Chorea

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Neuroacanthocytosis Syndromes II

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Causes of chorea are multifold and include inherited (genetic) and acquired forms. Among the genetic disorders, Huntington’s disease remains most important. However, other disorders with an indistinguishable clinical presentation are being increasingly recognized, and are referred to as the Huntington’s disease like (HDL) syndromes. These include HDL1 due to mutation of the PRNP gene (chr. 20p12); HDL2 due to mutation of the JPH3 gene (chr. 16q24); HDL3 mapped to chr. 4 (gene unknown) and HDL4/SCA17 due to mutation of the TBP gene (chr. 6q27). Other disorders discussed here include dentatorubropallidoluysian atrophy; the spinocerebellar ataxias; neuroferritinopathy; pantothenate-kinase associated neurodegeneration; chorea-acanthocytosis and McLeod syndrome. We review the growing list of recognized genetic (and acquired) disorders and discuss the clinical approach and useful factors to arrive at the etiological diagnosis.

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  1. Institute of Neurology, Queen Square, London, WC1N 3BG, UK

    S. A. Schneider & K. P. Bhatia

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  1. S. A. Schneider
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  2. R. H. Walker
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  3. K. P. Bhatia
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Editors and Affiliations

  1. Movement Disorders Clinic Department of Neurology, James J. Peters Veterans Affairs Medical Center, 130 W. Kingsbridge Road (127), Bronx, NY 10468

    Ruth H. Walker

  2. Department of Neurology, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA

    Ruth H. Walker

  3. Department of Medical Genetics Cambridge Institute for Medical Research Wellcome Trust/MRC Building, Addenbrooke’s Hospital, Hills Road, Cambridge, CB2 2XY, UK

    Shinji Saiki

  4. Neurologische Klinik, Ludwig-Maximilians-Universität, D-81366, München, Germany

    Adrian Danek

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Schneider, S.A., Walker, R.H., Bhatia, K.P. (2008). Differential Diagnosis of Chorea. In: Walker, R.H., Saiki, S., Danek, A. (eds) Neuroacanthocytosis Syndromes II. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-71693-8_2

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