Differential diagnosis of chorea (guidelines of the German Neurological Society)

Neurological Research and Practice, vol. 5, pp. 63

Abstract

INTRODUCTION: Choreiform movement disorders are characterized by involuntary, rapid, irregular, and unpredictable movements of the limbs, face, neck, and trunk. These movements often initially go unnoticed by the affected individuals and may blend together with seemingly intended, random motions. Choreiform movements can occur both at rest and during voluntary movements. They typically increase in intensity with stress and physical activity and essentially cease during deep sleep stages. In particularly in advanced stages of Huntington disease (HD), choreiform hyperkinesia occurs alongside with dystonic postures of the limbs or trunk before they typically decrease in intensity. The differential diagnosis of HD can be complex. Here, the authors aim to provide guidance for the diagnostic process. This guidance was prepared for the German Neurological Society (DGN) for German-speaking countries. RECOMMENDATIONS: Hereditary (inherited) and non-hereditary (non-inherited) forms of chorea can be distinguished. Therefore, the family history is crucial. However, even in conditions with autosomal-dominant transmission such as HD, unremarkable family histories do not necessarily rule out a hereditary form (e.g., in cases of early deceased or unknown parents, uncertainties in familial relationships, as well as in offspring of parents with CAG repeats in the expandable range (27-35 CAG repeats) which may display expansions into the pathogenic range). CONCLUSIONS: The differential diagnosis of chorea can be challenging. This guidance prepared for the German Neurological Society (DGN) reflects the state of the art as of 2023.

Authors 10

1. Carsten Saft corresponding

   Ruhr University Bochum · St. Josef-Hospital

   Affiliation as printed

   Department of Neurology, St. Josef-Hospital, Huntington-Zentrum NRW, Ruhr-Universität Bochum, Bochum, Germany. Carsten.saft@ruhr-uni-bochum.de

   Department of Neurology, St. Josef-Hospital, Huntington-Zentrum NRW, Ruhr-Universität Bochum, Bochum, Germany

2. Jean‐Marc Burgunder

   University of Bern

   Affiliation as printed

   Department of Neurology, Schweizerisches Huntington-Zentrum, Bern University, Bern, Switzerland

3. Matthias Dose

   Isar-Amper-Klinikum München-Ost

   Affiliation as printed

   Kbo-Isar-Amper-Klinikum Taufkirchen/München-Ost, Munich, Germany

4. Hans Heinrich Jung

   University Hospital Zurich

   Affiliation as printed

   Department of Neurology, University Hospital Zürich, Zurich, Switzerland

5. Regina Katzenschlager
   Affiliation as printed

   Department of Neurology, Karl Landsteiner Institute for Neuroimmunological and Neurodegenerative Disorders, Klinik Donaustadt, Vienna, Austria

6. Josef Priller

   Charité - Universitätsmedizin Berlin · Technical University of Munich · TUM Klinikum

   Affiliation as printed

   Department of Psychiatry and Psychotherapy, Klinikum Rechts der Isar, School of Medicine and Health, Technical University of Munich, Munich, Germany

   Neuropsychiatry, Charité-Universitätsmedizin Berlin, Berlin, Germany

7. Huu Phuc Nguyen

   Ruhr University Bochum

   Affiliation as printed

   Department of Human Genetics, Huntington-Zentrum NRW, Ruhr-Universität Bochum, Bochum, Germany

8. Kathrin Reetz Aachen Department of Neurology, Euregional Huntington Centre Aachen

   RWTH Aachen University · Universitätsklinikum Aachen

   Affiliation as printed

   Department of Neurology, Euregional Huntington Centre Aachen, RWTH Aachen University Hospital, Aachen, Germany

9. Ralf Reilmann

   University of Tübingen · University of Münster · University Hospital Münster · Hertie Institute for Clinical Brain Research · George Huntington Institute

   Affiliation as printed

   Department of Neurodegenerative Diseases and Hertie-Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany

   Department of Radiology, Universitaetsklinikum Muenster (UKM), Westfaelische Wilhelms-University, Muenster, Germany

   George-Huntington-Institute, Muenster, Germany

10. Klaus Seppi

    Innsbruck Medical University · Universität Innsbruck

    Affiliation as printed

    Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria